ONE CHILD SHAPING THE FUTURE THROUGH CLINICAL TRIALS

KELLY CARPENTER

I still remember sitting in a presentation on clinical trials for neurofibromatosis Type 1 (NF1) and thinking there is no way I could enroll my child in a clinical trial. Fast forward 3 months and due to significant tumour growth, I was enrolling my 3 year old son in his first clinical trial. The ironic part being that it was with the same doctor who gave the clinical trial presentation. My son Travis (now 11) is currently enrolled in his third clinical trial.

WE WORK AS A TEAM WITH HIS MEDICAL STAFF AND HAVE NEVER FELT LIKE GUINEA PIGS.

NF1 causes tumours to form on nerves anywhere throughout the body. Travis’ tumour extends over half of his body length and doctors classified his tumour as inoperable, making a clinical trial the only option. My husband and I felt compelled to look beyond the typical “wait-and-see” option given to NF1 families. For us, seeking a second opinion for Travis created the path towards clinical trials.

Before each of Travis’ three clinical trials, we obtained a copy of the protocol information, a multi-page document listing what is involved with each clinical trial and the contact information for the Principal Investigator (PI) or lead doctor. The protocol includes important information such as: clinical trial phase, how and when the medication is taken and stored, additional medications to take, medications or foods to avoid, required exams, follow-up frequency, how the team will determine if the medication is effective, and potential side effects. This information can be provided by the clinical trial PI without obligation to enroll. We reviewed this document with the team and our local doctors to discuss our questions.

After weighing the risks and benefits for each clinical trial, we determined the right answer for our family at that time.

Each of the clinical trials brought travel and logistical considerations. The first clinical trial meant traveling 1,000 miles by car, and the second two trials involved flying to the East Coast. In addition to travel expenses, hotels, and testing, we also factored in the time away from family, school, and work. Many great organizations like Miracle Flights, Ronald McDonald House, and the Children’s Inn helped us with travel logistics. Some clinical trials even include assistance to help cover travel costs. We reached out to a social worker at each hospital to help connect us with options for travel resources.

All potential clinical trial participants must complete testing to determine eligibility for the trial before the first dose of medication. Travis’ testing lasted from a day to a week, depending on the clinical trial. The results of these exams ultimately determined his enrollment in the trial. The strain of completing the testing with no guarantee of enrollment brings a complex series of emotions as you want to see your child healthy balanced with the hope for enrollment, i.e. “sick enough” for treatment.

Every clinical trial provides us with journals to document the timing of the trial medication, side effects, illnesses, and other findings. We submit these journals to the clinical trial team on a routine basis. These journals provide the necessary documentation for review by the team, other investigators, the drug manufacturers, and others involved in the clinical trial. We also receive calendars for follow-up appointments and cards with emergency contact information of the study doctors.

The clinical trial team constantly monitors all participants for side effects. These are listed in the documentation and are common to rare in frequency, and mild to severe. However, not all side effects cause harm. In his current clinical trial, Travis’ hair changed from brown to platinum blonde and he LOVES this color change.

During the follow-up appointments, we discuss Travis’ results with his medical team. Each clinical trial brought a different set of results. Travis’ tumor grew too much on the first clinical trial resulting in his removal from the trial and no words describe the devastating feeling when we learned of his removal. The second clinical trial showed slowed tumor growth. At his 3.5 year appointment on his current clinical trial, Travis’ tumor shrank 38%! We are thrilled with this result, and with minimal side effects.

We build in time for fun activities and meeting up with friends while we travel for the clinical trial appointments. The timing of one trip worked out for Travis’ dad and 2 older brothers to join us and we enjoyed exploring Washington D.C. as a family. Another trip brought an opportunity for Travis to attend a NASCAR race and meet drivers and crew members of his favorite teams.

One thing remains consistent throughout all the appointments, discussions, phone calls, and emails, we work as a team with his medical staff and have never felt like guinea pigs. For Travis, participating in clinical trials helps the doctors learn more about his condition as he hopes “no one else has to go through this”. His current clinical trial may lead to the first medication to be approved for the treatment of plexiform neurofibromas in NF1 patients.

For more information about clinical trials, go to clinicaltrials.gov.

 

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Kelly Carpenter, her husband Scott, and their 3 sons (Nolan, Barrett, and Travis) moved to Salt Lake City 8 years ago to be closer to Travis’ medical teams for his NF1 care. Kelly champions the efforts to #EndNF through volunteering with the Children’s Tumor Foundation; weekly at the NF Clinic in Utah and helps coordinate Utah NF Symposium. Kelly and family are actively involved in sports, especially racing and hockey in addition to managing Travis’ medical appointments and care. Kelly earned her Meteorology degree at Texas A&M University and proceeded to earn a Masters Degree in Atmospheric Science at Colorado State University with an emphasis in tropical meteorology and satellite imagery. Kelly currently works at the Children and Young Family Ministries Coordinator at Christ United Methodist Church in Salt Lake City, UT.

LIVING WITH THE ANXIETY OF HAVING A CHILD WITH NF

JESSICA JEMENTE

A few hours ago I was fine... Well, okay, not fine but I was suppressing/managing my anxiety to the best of my ability, like I do on a normal basis. BUT last night it all hit me. This is what life is like now. It is fear, sadness, the feeling of being lost, angry, confused and helpless.

This is having a child with an incurable medical condition. Not a medical condition that entails just ONE type of illness or symptom but a ter­rifying genetic disorder that causes countless symptoms, illnesses, pain and disabilities and there’s no way to know when/if they will show up or how severe.

So, when my beautiful daughter complains on and off over a few weeks that her “tummy hurts” pointing to her chest or that her legs hurt or I see new bumps or spots on her skin, my heart sinks. I begin to think of worst-case scenar­ios and my stomach is in knots. I quickly think about which specialist I need to contact and if this is something that we should see her regu­lar pediatrician for (because she is, after all, a growing toddler) or could it be something more growing inside her, something out of place, a tumor, the list goes on...

My husband and I talk it over and over and over. I reach out to my fellow NF parents and search MANY posts related to what I see my daugh­ter experiencing. Then book an appointment and talk to the doctor about everything that’s been leading up to this. I rack my brain trying to remember every diagnosis, struggle, pain, treatment, medication and supplement she’s taken at EVERY appointment. It’s exhausting and I have to relive the pain this disorder is caus­ing every time but I don’t want to miss anything that could be relevant. If I do forget to men­tion something I am so disappointed in myself for not memorizing every detail of her health by now or not preparing my questions better beforehand. We discuss our plan going forward and what we will do now (X-ray? MRI? Will she need anesthesia again? EEG? Blood work? See another department? Try a med?). Will it be diagnostics today or just monitor this time?

We go home and try to resume our normal day to day life. Then it happens again...Something else pops up. Mya seems to be in pain, she’s walking a little strange, she rolls her eyes, and twitches in a funny way. I ask, “Why is she tripping so much all this sudden?” The whole cycle starts again - worry, fear, research, questions, which specialist, doctor’s appointment, diagnostics, wait and watch, repeat.

All this, not to mention preparing Mya for everything that is going to happen to her. Helping her through doctor appointments, the poking, prodding, needles, wires, “pictures of her bones,” checking on her “superhero spots.” My little girl has just turned 4 years old. “Why does she have to endure more than most adults?” I ask myself. I feel overwhelmed with sadness but I have to stay strong for her.

SHE LIGHTS UP EVERYONE SHE MEETS AND HAS SO MUCH POWER IN THAT LITTLE BODY OF HERS!

And our daughter... Our beautiful, smart, kind, sassy, WARRIOR of a daughter! She gives me so much strength, courage and determination. She is so re­silient (as are so many little warriors like her) and she handles things that most adults have a hard time with.

This cycle happens over and over. Sometimes we have weeks or even months where little things don’t pop up and we don’t have to question every movement, pain, groan, strange behavior and tummy ache or eye twitch. In those times, I may go hours, maybe even a whole day without thinking about my daughter’s disorder, worry­ing or thinking about all of the “what ifs” hap­pening inside of her body that I can’t see.

I smile, laugh, talk with friends, cry, have bad days and good days, share posts, interact on social media, run my business, we play, our family enjoys time together, we go shopping, cook, clean, do laundry. Everything is NORMAL, as it should be. EXCEPT IT’S NOT... in between all of those normal moments something hits me. It could be a spot on her skin as we get ready, an appointment on the calendar, seeing her freeze up when another kid runs too close to her, watching her struggle a little on a step at the playground or even just a post I see from another NF parent. Sometimes it’s for no reason at all…

For clarity, I wrote about our “normal” day-to-day routine before Covid-19 happened. Now, in the time of “Safer at Home” I find myself home­schooling, doing therapy, working and trying to help Mya adjust to all this without increased anxiety and juggling this strange new way of life just like most every family in the world right now. Mya’s yearly and 6 month checkups have all been put on hold and I am left to won­der when she will get her “baseline” appoint­ments with all her specialists again. They are stressful appointments, yes, but also reassur­ing to have her developmental and baseline health stats, and I am missing those appoint­ments now. I am grateful that Mya just recently had her yearly MRI (which came back clear) and that she has seemed to have no medical issues since this pandemic started, but some parents and children are not so lucky. I’ve spoken with many other friends in the NF community whose diagnostics have been put on hold. Although this seems like no big deal to some, it’s a huge deal for a parent who was just about to find out

WE CAN ALL RELATE IN SOME WAY AND BEING THERE TO LISTEN AND SUPPORT OTHER NF PARENTS GIVES ME STRENGTH DURING A TIME WHEN THERE IS SO MUCH UNCERTAINTY.

why their baby girl is having seizures occasion­ally, why their little boy is having vision issues and headaches so much, a parent that has just been told their child has NF and are left with so many questions because their appts are now delayed. I also know how important safety is not just for patients but the doctors and staff at all hospitals as well. Things are hard for everyone right now and I have to remind myself of that.

Just the thought of having to bring Mya in to a hospital right now for any reason gives my anxiety. I think to myself, “Will a phone ap­pointment be enough? If she has to go to the emergency room, what risk am I putting on her? Is she at greater risk of catching Covid-19 because of her NF?” I know many are currently going through the same thought process.

I am just grateful that our last few months have been good ones and I try to focus on that as much as possible. I also reach out the others around me in the NF community who are in my position as well. Our situations may be differ­ent but we can all relate in some way and being there to listen and support other NF parents gives me strength during a time when there is so much uncertainty.

I struggle every day with this anxiety.

I am learning to cope with my daughter’s diag­nosis and making sure she gets the best pos­sible care. I find myself hypersensitive to the struggles and ailments she endures and some days I am drowning in a pool of tears because I’ve lost my way. I dream every day that this picture I have just painted for you is no longer our reality. That when something happens to our little girl we will have answers, treatments that work and most of all A CURE. Spreading aware­ness and funding of NF research is so important to my baby, our family and so many others we’ve had the honor to build relationships with (most of them amazing young children like Mya). It could bring us closer to treating with medi­cations (like Selumetinib that was just FDA approved!), more support and one day even a world without this awful disorder.

I can’t fix everything. I can’t know every­thing. I’m still trying to come to terms with that and one day I will feel like I can handle it all better. One day I will be a little more at peace with the way life happens. Until then I will share, be honest and vulnerable and continue fighting for our daughter, advocating and fundraising for NF research.

 

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This article is reprinted with permission from the Children’s Tumor Foundation’s website: ctf.org

“When the girls were around twenty-three years old, the fibromas started to appear overnight by the hundreds. And naturally, people stare. Not everyone knows what the condition is. Young children are the best, cause they’ll just joke about the fibromas, or ask outright.”

Ingrid Nagy’s twin daughters, Anina and Alexa Nagy, are very lucky – they are two of few people who look forward to going to work every day. At the Mediated Learning Academy, where the girls both went to school, Anina and Alexa now work with younger children,
helping to teach math and arts & crafts. The school’s students naturally gravitate to them, thanks to the twins’ playful and kind demeanors. Outside of work, Anina and Alexa love to hike with their parents, socialize, travel, and go for bike rides. At age 27, they live happy lives, and with the help and support of their parents, guide others to embrace the same positivity.

But 25 years ago, Ingrid wasn’t sure how to take the news when her two-year-old twins were diagnosed with neurofibromatosis. She had never heard of the genetic disorder before. When the girls were first diagnosed, Ingrid cried for days. But in some ways it was also a relief – the family had been concerned about the girls’ delayed speech development, and with a diagnosis they could begin to properly address any learning and health difficulties.

“It was a mixed bag,” Ingrid admits. “In some ways, I was happy I got those carefree years before the diagnosis. But learning what the girls had helped me to finally focus on making things better for them.”

In many ways, Ingrid felt isolated at first – after all, 25 years ago, NF was talked about much less than it is today. Even many doctors and health specialists, Ingrid found, weren’t always familiar with the disorder. Luckily, with the help of BCNF, Ingrid was able to find resources and, most importantly, friends.

“Meeting other people with NF was, at first, devastating. I cried for days thinking about the ways in which my girls would be affected [by the disorder] down the road. It was very shocking. But then, I started to get used to it. You wrap your head around it. And you focus on the every day and hope for the best.”

“I met amazing people – people who were in the same boat as us. I met my friend Ivan very quickly through BCNF; he was a huge support. Seeing someone with NF who was always so upbeat and full of life was a great experience for the girls. It helps you realize that you can be positive with these challenges, too.”

Of course, raising her twins, Ingrid hit road bumps along the way – as any parent does. Her and her husband’s consistent positivity and strength has kept the family happy and striving, even if in recent years, the increasing numbers of fibromas occurring on the girls’ skin has provided additional hurdles.

Rather than teach her daughters to shy away from situations where they may be asked about their condition, Ingrid takes people’s curiosity as an opportunity to spread the word about NF. “People need to know what it is. It’s helpful to talk to people about it and explain – because next time they see someone with the condition, they can recognize the disorder and understand.”

At a conference once, Ingrid remembers being shown a brass statue meant to represent life with NF. “It was a person wrapped in cloth, in hiding. It broke my heart. That type of living kills your spirit. I want my girls to be brave and live fully – not hide under some cloth. My biggest fear is that they will feel they have to hide.”

“We’ve found a lot of people in this community that are going through this alone. That’s where BCNF has been so amazing – the girls have loved connecting with other young people at the social, and at the Scotia Bank run. They’re looking forward to more events like those in the future.”

Ingrid recalls taking her daughters to Switzerland, where they went shopping and found beautiful bikinis. “I realized I couldn’t over-think these small things, like whether or not to let them wear the bikinis out to the beach. If they want to wear them, then of course I should let them – even if it will show off their condition.”

Through this mentality, she has taught her girls traits and virtues that any mother should hope to impart to their children: self-esteem, openness, and the pursuit of joy.

“The girls love to socialize. We travel. We’ve been to Europe three times. And they love working with children.”

While Ingrid has worked to ensure Anina and Alexa live fulfilling lives, she has experienced frustration at the lack of local treatments available for the disorder. In particular, she’s had great difficulty finding plastic surgeons in BC who will treat patients with NF.

“Research is good, but we also need to find people who are willing to help treat and remove the fibromas. There’s a piece of equipment we need, that I haven’t been able to find in BC. It would make such a big difference to so many people,” she explains.

In a society that places such high value on physical appearance, patients’ quality of life can be vastly improved once cosmetic treatments are made available for the disorder. It is therefore understandable that a mother would search high and low for a centre that will address these physical concerns for her two daughters. And perhaps it is because of the existing stigma around physical ‘defects’ that the girls have found such solace in a local anime community.

“Through a friend, Alexa and Anina started going to these anime gatherings. We’d make elaborate costumes for them to wear. They’d love it. Kids would rush up to them and beg for their photos, and they would come home and say ‘Mom, it was so great! Everyone wanted to get their pictures taken with us!’

When asked for words of advice for parents currently raising children with NF, Ingrid’s amazing energy shines through yet again. “You have to stay social. We have a lot of learn from each other [in this community]. We socialize a lot, we hike, and we bike. We live busy lives. And in many ways I’m very lucky, because my girls have each other throughout all this.

At the end of the day, its Ingrid’s gratitude and strength that has taught the girls to embrace life in the face of difficult challenges. “We’ve been blessed with amazing friends and family. And we have to be grateful – we have to look at all the wonderful things we do have, and the quality of life we have here. And we take it day by day.”

NF1 IN THE SPOTLIGHT: OPTIMISM,
FASHION, & FOLLOWING YOUR DREAMS

AN INTERVIEW WITH AROOJ AFTAB

Arooj Aftab sounds wise beyond her years from the moment we hop on the phone – so much so that I almost don’t believe her when she says “Yeah, I’m 23.”

A fashion blogger, influencer, and stylist, Arooj is known online for her distinct baggy clothing style and put together outfits. Though I had followed her Instagram at @vogue_wonders, where Arooj currently has over 10,000 followers, I wasn’t sure what to expect when we spoke. I shouldn’t have been nervous. From the moment we get on the call, her positive energy and sunny outlook was clear: Arooj seems to find inspiration everywhere she looks. “I find inspiration in what I read, what I see, what I look at, magazines, fashion trends already out there, and more – I try to find as much inspiration as I can on a daily basis to help people on my platform.”

For Arooj, helping people goes well beyond sharing her stylish, well-curated outfits. While her fashion sense is inspirational already, Arooj is particularly remarkable for how she uses her fashion platform to raise awareness around neurofibromatosis type 1 (NF1), which she is personally affected by. Particularly in the modelling industry,which has a history of favouring certain body types, being honest about her condition has been an incredibly brave and impactful step that has allowed Arooj to help people both within her home country of the UK and well beyond.

“My main style consists of oversized fitting clothes which I share on my Instagram. But in working in the fashion industry [in roles spanning from scouting to digital content], I want to show that no matter what you’ve got, you can be who you want to be. I’ve always been interested in fashion and intrigued by the way clothing fits on our bodies, and how it becomes a representation of who we are. It’s not just about clothing – it’s about expression.” Arooj didn’t start off using her platform this way – originally, it was simply to share her own style.

“I once saw someone hashtag ‘outfit of the day’ on Twitter and I thought, ‘Hmm, I could do that.’ So I started posting my different outfits. But then as my NF grew, my clothing sizes got bigger, but nobody knew why. I just became known for oversized fits and wearing menswear.”

Arooj eventually became shortlisted for a Cosmopolitan Award for her sharp style sense. And yet, while this was exciting, she couldn’t help but regret that no one following her platform knew the true story behind her baggy attire. “It was then I started to feel like I couldn’t accept it; I felt like a bit of a fraud – because no one knew my real story. I felt like I was hiding. I wanted to achieve something but I wanted to be authentic as I achieved it.”

Of course, sharing one’s condition can be a stressful and daunting task. For Arooj, it was also empowering: she hadn’t anticipated how many people she’d reach and touch through her message.

“I shared my story online – it was scary. I was more scared sharing it to Instagram than I was doing a documentary, for some reason. With the documentary I was part of, it was pre-filmed. Online, I wasn’t sure how people would respond in real-time. But honestly, it was incredible. My direct messages went crazy. I got so many followers; I received so much support from people relating to me: some people with NF and some people who didn’t have NF, but who understood how I felt and thanked me for being so authentic.Even to this day I get loads of messages and they’re all so much more positive than I was expecting. A weight was lifted off my shoulders.”

NF is often a hidden condition – so many afflicted by it hide the fact that they have it, which can lead to a lack of general awareness about it. Even though NF1 is found in roughly one out of every 3,000 individuals, there are few public figures who have admitted to having the genetic disorder. Arooj has given many people with NF a woman to look up; a figure in the public eye who is going through the same challenges they are. “I’ve had people write me saying ‘Wow, I’ve never seen a person with NF in the mainstream media.’ It’s kind of crazy to me, because so many people deal with it. For me, I’m just happy I can use my voice to spread the word. When British Vogue mentioned me in an article, it meant a lot to me – to see huge publications pick up my story and share it with their readership has been amazing. More people are learning about what NF means and how common it is.”

Still, Arooj is incredibly humble when I congratulate her for her bravery and for setting an example for others. “I’m not perfect”, she admits. “What works for me might not work for everybody else. I think the first step is trying to accept your condition, and knowing that it’s not the end. The first stage for me has always been acceptance; understanding myself and my needs. For those newly diagnosed, I would just remind people to not let NF put up barriers for who you want to be in the world. We are so much more than our conditions as people. We have so much more to achieve.”

In terms of her own achievements, Arooj shows no signs of slowing down. “I’ve just wrapped up another piece for a big fashion magazine, a video on diversity and confidence. I’m also working with some charities, and a few projects on the horizon. I’m moving to London soon and have a lot of exciting work coming up there.” Through it all, she finds important ways to take care of herself. When asked what she does to nurture happiness, she states: “Anything with creative arts, writing, keeps me going – I love arts and imagery. Writing down how you feel always helps: always be reflecting. Looking back on your writing shows how you’re working towards your achievements, how you’re chipping away. I find time to go to galleries, go for walks – but I think you can make anything into your happiness. It doesn’t have to be just one thing.”

It also doesn’t have to be too planned, or part of a routine. Rather, Arooj speaks to the importance of generally trying to take it day-by-day. “I don’t necessarily have a routine. I think each day we learn, we see what’s good for us, what’s not good for us. I try to get an early night, but it doesn’t always happen. You can’t always know what the future holds, so I take it day by day. My advice to others is: take each day as it comes, but don’t have expectations. Be grateful for your experiences and opportunities and stay positive. When you’re positive you can be the best person of yourself, and not let anything stop you”.

“It’s always mindset over matter” Arooj explains. “It’s easier said than done, but if you can start developing a stronger mindset, the world is your oyster. The minute I get up and be positive and do things, my life will change. I’ve tried to take on an attitude of recognizing how lucky I am – how lucky I am for healthcare, and for the life I do have. I’m lucky to have great friends, great family – and lucky to have a voice.” Of course, there are challenges. There are good days and bad. But building a community online, an extended network of supporters and friends, has helped Arooj stay strong and keep moving forward.

“One thing I want to be clear about” Arooj states “is that I haven’t beat NF – I’ve just accepted it". I’m not some superwoman who has suddenly overcome it. What I have tried to do is be open with it. Accepting and overcoming are two different things: but what has helped me is hearing stories of other people and knowing that I’m not alone.”

 

 

 

 

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Brittany McGillivray is an editor and content strategist based in Vancouver BC. She has an MA in New Media and Digital Culture from the University of Amsterdam and a BA in Literature from McGill. As an avid reader, writer, and aspiring poet, she cares most about community, feminism, and giving a platform to all voices.

NAVIGATING A CHRONIC ILLNESS WITHOUT A CLINIC

COURTNEY WILLOUGHBY

Ask anyone about the challenges of living with a chronic condition, and I bet they will tell you that at least once they have struggled with navigating the health care system. Balancing appointments, tests, follow up visits, lab work, procedures, even just learning medical terminology is a daunting task. Who orders your lab work? Which specialist refills your prescriptions? It can all seem so overwhelming if you’re new to, or unfamiliar with the ins and outs of health care and there is no expert or clinic to turn to.

Let me just preface by saying this: I have received excellent medical care since my diagnosis of neurofibromatosis, and I am grateful for all of the kind hearted, talented and resourceful physicians I have had the chance to work with. However, I have faced my fair share of frustrations and struggles over the years that I think could have been prevented if a specialized team had been in place.

A neurofibromatosis clinic would provide competent and comprehensive medical care to NF patients such as myself. There have been countless times that I have had to explain my condition to physicians, which is frustrating and completely time consuming. It adds another layer of challenges to living with a complex health condition when doctors look to the patient for expertise and guidance. Could you imagine taking your loved one to a medical appointment and having the doctor ask you what to do? That is what it’s like for every patient with NF living without a clinic. While NF is common, it is not common enough for most family doctors to be knowledgeable in providing specific care.

About a year ago while I was at work, I asked one of our medical residents if they happened to know what Neurofibromatosis was. She looked at me, paused and said, “I know what it is, but only at a very basic level. We only got a half hour lecture on it in school.” I was shocked. Half an hour for a condition that has taken me over 20 years to begin to understand?! It’s really not that surprising that I have been met with such unease and uncertainty in the past. Again, I feel like an NF specialty clinic would help amend those feelings.

At a recent doctor’s appointment, I went in with some concerns about new symptoms I felt were attributed to one of the new medications I was on. I was told that I actually was not reacting to the medication I was on, but I had an entirely new condition that I apparently was not aware of. This was all based off of me being in the office for less than five minutes, and me having one symptom of this alleged condition. I was prescribed a medication (one that can have some serious, life altering side effects) to take three times a day, and was sent on my way. Most patients would have blindly accepted this as the truth, and carried on following doctor’s orders. However, I knew that this was not what was going on with me, and that something needed to change with my current medication regimen.

MOST PATIENTS WOULD HAVE BLINDLY CARRIED ON FOLLOWING DOCTOR’S ORDERS. HOWEVER, I JUST KNEW THAT ... SOMETHING NEEDED TO CHANGE WITH MY CURRENT MEDICATION REGIMEN.

After I had a discussion with another specialist about the symptoms I was experiencing, he agreed that it was a side effect of my medication and promptly switched me to something different. In less than 24 hours, I was feeling the best I had in months. I feel like this was an oversight in my care and if there had been a clinic in place that was familiar with my case and my condition, I wouldn’t have had to endure this incredibly frustrating experience.

People living with complicated medical conditions often spend hours researching, learning, and relentlessly advocating for themselves so they can receive the best medical care. A neurofibromatosis clinic would change this. It would give people a place to go to get their questions answered and their concerns clarified. A clinic would provide a sense of community for people dealing with this condition. Most importantly though, patients utilizing this clinic would not be met with apprehension or uncertainty regarding their diagnosis. They would be empowered with knowledge, and the anxiety that permeates each day would be alleviated with the understanding that a team of knowledgeable medical specialists are looking after them.

Courtney was diagnosed with Neurofibromatosis Type 1 at the age of 3. She currently lives in Red Deer, Alberta and work as a Registered Nurse in labour and delivery. In her spare time, she loves to explore the mountains, garden and blog! She also sits on the board of directors for the Alberta Tumour Foundation and loves raising awareness for neurofibromatosis.

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Visit Courtney’s Blog: courtneys-column.blogspot.com
abtf.ca

This is my son Crew and he has a genetic disorder called Neurofibromatosis 1 (NF1). NF has greatly impacted his life. At age 2.5 years old Crew has had at least 5 MRIs under sedation, he has 8 different doctors or specialists, too many appointments to count, he has tumors in his mouth, cheek, near his brain stem and neck. The tumors have caused his tongue to be asymmetrical to the extent of the center of his tongue being on the left side. His speech is being greatly affected and has started Speech Therapy. He often accidentally bites his tongue and gets frustrated when others can not understand him. The tumors have caused his parotid gland in his cheek to be blocked and will be needing Botox injections under sedation. Due to the tumor on the trigeminal nerve, every time when he chews food red flushing occurs on his right cheek that sometimes goes into his ear, eyelid and hairline. Sometimes when his skin flushes his right eye will water. Crew has been taking a chemotherapy medication since 11/29/16. Sometimes the meds make his stomach feel upset or gives him headaches.

Crew has been to the doctor so often that even as a toddler he often tells the professionals what to do and when. (i.e. Check this ear, that ear, eyes, pulls up shirt for them to hear his heart and back)

We have an amazing support group that has banded together to put together and support fundraising for a lifelong medical fund for Crew. This includes fundraisers and awareness basketball games at local high schools, Facebook direct sales fundraising, selling homemade holiday arrangements, selling tshirts, putting together a huge benefit at a local elementary school, plus more. We even just recently interviewed with Fox 17 about Crew, his journey with NF1 and his fundraisers. We hope to bring
awareness to this disorder, and help provide strength and hope to others on similar paths.

If you would like to donate to Crew¹s Lifelong Medical Fund please visit:
https://www.youcaring.com/crew-berens-656223

If you would like to contribute a donated item, gift certificate or gift
cards for our silent auction please email me at hrberens@gmail.com

For more information on Crew and his journey please follow his Facebook
page: His Battle Is Our Battle

Fox 17 News story about Crew:
Toddler fights NF1, community rallies during basketball games

Thank you so much for your time in reading this and for your prayers.

My name is Emily Owen.I live in the U.K and I have NF2. I was diagnosed at the age of sixteen with no family history. I am now deaf and have limited mobility.

What do you wish people knew about NF2?

I would like people to have heard of it. It may seem a small thing, but just to have ‘NF2’ being spoken and recognized would be a great thing. Many of my friends had never heard of NF2 until my diagnosis (I hadn’t either). Now, if they send a text which includes ‘NF2’, I feel really pleased!

Tell us a unique fact about NF2.

NF2 affects everyone differently. So it is unique to every­one. That is a fact I wish I had known from the outset, so I didn’t draw comparisons. What does or doesn’t happen to someone with NF2 may or may not happen to me.

You have faced many obstacles. What has been the hardest part of your NF journey?

Learning to accept that there are things I can no longer do. Acceptance makes life easier, though.

"God, grant me the serenity to accept the things I cannot change, Courage to change the things I can, And wisdom to know the difference."

~ Reinhold Niebuhr

How did you move past the diagnosis to find joy again and discover your rainbows?

I learned to let go of things I’d had before my diagno­sis. For me, that meant changing my life plans, as they became unrealistic. For others, they can achieve their life plans despite their diagnosis. As I said before, NF2 is different for everyone.

I made finding rainbows a deliberate choice. No mat­ter how hard life gets, there is always something good to find.

What do you do on the days you feel discouraged?

There’s a song in the musical ‘Annie’, with the lyrics, “The sun’ll come out tomorrow”. I remind myself when I do have bad days, every day is not a bad day. And maybe tomorrow won’t be one.

What is one wisdom you would share with parents whose child just received the NF2 diagnosis?

Ask questions. No question is ever too silly to ask.

I think of it like putting petrol in a car. You may not need to make a car journey right then but, if there comes a time when you do, it helps to have petrol in the tank.

You may not need the information you gather, but you’ve got it just in case. Prepare for as much as you can, but always hope for the best: that’s my motto.

What tips would you offer someone who is thinking about writing their NF story?

Be absolutely sure that what you include in the book is something you are happy to have out there for anyone to see. Know why you are writing it. Then, start writing and see where it takes you.

Have you ever regretted exposing yourself or your diagnosis to the world?

Regret would not be the word. It did take me many years to be able to write my story, though. I am fre­quently surprised when people I’ve never met before know things about me! I forget that people read my book, to be honest. I was very clear in what I was will­ing to include in the book.

What made you want to write Still Emily?

I didn’t want to write it. I resisted for 20 years. In the end, I said “yes”. I wanted to show that there can be hope in dark times (not just NF2 dark times). My story is not a ‘happily ever after’ story. I still have NF2. Life is still difficult. I still have dark times. But, if we can learn to glimpse hope and joy and rainbows in the darkness, the darkness is not so dark.

What keeps you up on down days?

A cup of tea. (Though to be fair, a cup of tea is rather essential on any day!) Flowers. A text from a friend. Reading a book. These are all moments of ‘up’ in the ‘down’.

Also accepting that down times will happen – NF2 can be pretty horrid, after all.

And I remember that God is with me; nothing is so bad that He walks out and leaves me to it alone.

What has been some of the best medication you have tried? Have you ever done a clinical trial?

I take Gabapentin for nerve pain. I wouldn’t like to be without that medication. It really helps me, though it took a while to get the correct dosage. For me, too much of it makes me even dozier than usual!

I have done a clinical trial. Unfortunately it adversely affected me, so I had to stop before I completed it. I know other people who do trials successfully, and I am very grateful for people who do them. I often think that the treatments I receive probably came about because someone did a clinical trial. Having said that, for me it is important not to feel ‘guilted’ into doing a trial. They are not for everyone.

Check out Emily’s book on Amazon or order from your local bookseller.

What is the best part of having NF2? The worst?

The worst? Not being able to hear. And never knowing whether my scans will provide good news or bad news.

Best? Seeing how nice people are. I can honestly say I have never had anyone unwilling to help me.

Are there any current medical advancements you wish you could have chosen?

I think, had there been a treatment that could save my hearing, despite other side-effects – and knowing what I know now about hearing loss – I’d have given it a go.

Has your facial paralysis improved with therapy?

My facial paralysis improved with surgery, though I know people who have had fantastic results from therapy. My surgery was a hypoglossal nerve graft, which means they grafted a nerve from my tongue into my facial nerve. My paralysed side still does not achieve symmetry when I smile but, at rest, it is now fairly symmetrical.

How long did it take you to learn American Sign Language?

Well, I learned BSL (British Sign Language), but I guess the learning process is similar! It took me a long time, and I am still by no means fluent. When I was learning, I always worried that I was not getting it ‘right’. That my hand shapes were wrong, my syntax was wrong, everything was wrong. Then one day I realised that it doesn’t need to be perfect. I just need to communi­cate. After that I found it easier to go with the flow a bit more. I’m sure I still make lots of mistakes but if I can be understood and understand others, that is more than enough for me.

I would encourage people who are diagnosed with NF2 to learn to sign; it’s a good skill, whether or not hearing loss eventually occurs.

What advice would you give to someone with NF1 or 2 who is trying to decide if they should have children?

I don’t feel qualified to give someone advice on that. Each person must make their own decision. If someone were trying to decide, I might remind them that there are people available to help talk things through. I’d also be happy to talk with them myself. But the decision is for them to make.

What's next for you?

I hope to carry on writing and speaking. But NF2 may decide otherwise! At the moment my NF2 is behaving quite well, but as my surgeon put it, “that doesn’t mean I should be complacent.”

One thing that is next for me is to continue not being defined by NF2. NF2 is a part of me but it is not all of me. As I wrote in my book, Still Emily, ‘NF2 affects me, but it doesn’t define me – unless I let it.’

NF2 is a difficult minefield to tread, and there are often no clear-cut answers. I hope and pray that as you nav­igate the minefield, you will find rainbows to help you along the way.

You can reach Emily at emily@emily-owen.co.uk

FINDING MY TRIBE

AN INTERVIEW WITH CHARLOTTE

Charlotte has learned a lot in her mere twenty-two years. She’s learned what it means to grow up with NF and how to pick yourself up when the cards just aren’t in your favour. Executive Director Desirée had the chance to connect with Charlotte via video call to learn about her experience with NF.

Charlotte was diagnosed with NF1 at just two years old. Visiting two pediatric hospitals for nearly 17 years, NF was just one part of her childhood. “I’ve known all my life that I’ve had NF”, Charlotte remarks. A struggle felt by many in our local NF community, Charlotte had no single physician to follow her on her journey with NF.

“There wasn’t anywhere to get my check-ups regularly (like MRI scans, bloodwork, neurol­ogy appointments).” Charlotte still has ongoing challenges with her NF. Most pointedly, tu­mours. Fortunately, though, Charlotte shared that her main concern is just “a really tiny [tumour] in between the nerves where the eyes and nose connect”. Yet in spite of her minimal tumour growth, Charlotte still has fears about her health.

“I notice more tumours on my face. It’s just kind of scary because what if one of them gets very big?” But Charlotte’s supportive community allows her to stay rooted in the present. She credits her family for teaching her positiv­ity. At the mention of her two older sisters, I had to ask if they ever picked on her. Charlotte said thankfully she was saved from customary sibling teasing, but that she did face bullying in school.

When Charlotte moved to kindergarten, she realized she was different from everyone else. “Young children notice when people are differ­ent. Even though I’ve known all my life that I’ve had NF, they saw me and thought ‘she’s differ­ent’,” Charlotte stated. “I always ask myself why some of them bullied me. Kids will be kids, as crappy as it is. I don’t hold it against them.” But as she transitioned to middle school and then high school, her friendships became “10 times better”.

“It takes time and some effort, but when you find yourself and the group of friends who will stick with you for hopefully a long time, it’s worth it.” Charlotte doesn’t shy away from explaining her diagnosis to the people in her life. “I explain the café au lait spots and that I get benign tumours. I also explain that NF affects everyone differently.” And like most individuals with NF, Charlotte has also had to school a doctor or two.

Looking back on one experience with a phys­ician, she notes how sometimes doctors forget how overwhelming NF is to patients.

“The doctor or nurse talking to my parents and I casually mentioned ‘Oh, Charlotte has a tumour’ and explained what that meant to my parents instead of me. Tumours are usually scary, so I had all these negative ideas come to mind. The person eventually backpedaled and explained that the tumour was very small and likely not harmful. But it was still a crappy interaction.”

Yet Charlotte has learned from this experience. When asked what she would to say to someone who isn’t getting along with his or her phys­ician, she recommends “looking into other doc­tors. At the end of the day, there’s always going to be someone willing to help you get better.”

Charlotte’s perseverance and positivity has allowed her to pursue her dream of helping other people. Currently at school in Campbell River to become a support worker, her learn­ing disabilities have never held her back. While it was a challenging transition to online learning, Charlotte was once again able to reframe her situation by choosing a “glass half-full” perspective.

“It’s harder to do homework by myself now that our classes are on Zoom. It’s also harder without any social interaction, but it has been a good challenge. So far so good!”

After completing her education program in March, Charlotte hopes to work with Campbell River Care in Counseling to support at risk youth and youth with disabilities. After that, Charlotte dreams of an adventure. “I’d really love to move to Victoria,” she admits. “Or maybe go travelling across Canada or Australia on my time off – I would love that.” When asked about the future of NF, she hopes that young adults be­come aware of the support available to them. “I feel that not many people outside of the NF com­munity know about NF. The Tumour Foundation needs to keep reminding people that they aren’t alone and that it’s okay to have NF.”

Since attending school and living with a genetic disorder (all amidst a pandemic), Charlotte knows the importance of self-care. When she

I THINK IF I DIDN’T HAVE NF I WOULDN’T BE SO UNDERSTANDING AND CARING. I THINK I WOULD BE A MUCH DIFFERENT PERSON. IT’D BE NICE TO GET RID OF THE TUMOURS, BUT THE COMMUNITY THAT COMES WITH NF IS REALLY GREAT.

faces tough days, Charlotte likes to talk to loved ones, eat some ice cream, or get outside to enjoy her new favourite hobby – roller skating. “I just got some really nice skates recently,” she says with glee. “I’ve been trying to go out every day it doesn’t rain.”

Charlotte’s optimism shines brightly as we discuss a variety of topics. Unsurprisingly, when asked if she would ever get rid of her NF, Charlotte says she wouldn’t jump at the offer. “I think if I didn’t have NF I wouldn’t be so under­standing and caring. I think I would be a much different person. It’d be nice to get rid of the tumours, but the community that comes with NF is really great.”

Charlotte has learned some invaluable lessons through her journey with her genetic disorder, including “that it can be challenging at times but that’s why your family and friends are there for you – to help you grow as a person”.

Charlottes wants the NF community to know that just like everything else in life, managing NF just takes trial and error. “Just know that it gets better. Even when you feel alone, know that you aren’t. Reach out to your loved ones or the Tumour Foundation online. It takes effort but it’s totally worth it in the end.”

 

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Interviewed by Desirée Sher

MORE THAN JUST TUMOURS

AN INTERVIEW WITH HANNAH

Hannah lives with NF 1 in Alberta, Canada. Originally from Tennessee, she struggled to build community when she moved to Alberta to pursue a Master’s degree. She shares her insights on navigating life with NF in the following interview with Desirée Sher.

WHEN WERE YOU DIAGNOSED WITH NF?

I’m 32, and I was diagnosed much later then most children are now (I was 8 or 9). I was seeing a neurologist for many years, on the assumption that I had epilepsy. One day, he brought a student-doctor to my appointment to practice a physical exam. While the student was doing the physical, she noticed that I had café au lait spots and freckling in the armpits. She brought my neurologist back in and observed to us that I may have NF. My neurologist ordered an MRI and that’s when we discovered an optic glioma. I remember when the neurologist told us, he was just as shocked as we were to discover I had NF.

WHAT WAS THE EXPERIENCE OF GOING TO A MULTI-DISCIPLINARY NF CLINIC?

It was really great to have the NF clinic in Nashville. There was one core doctor who is there one day a week for the clinic. He and his secretary help to coordinate all the meetings that you need with other specialists who are connected to the NF field. I never had to wait very long for those appointments, either. An MRI would sometimes just take a day, and I never waited for an appointment for more then a month. With the advent of the clinic, you no longer had to tell your whole story of NF to every doctor you saw, or wonder if your doctor even knew what NF is.

When I was living in Seattle, I went to a regular family doctor about a neurofibroma located next to my spine and he said he could take it off right then, in the small room we were in. I remember looking at him and thinking that he does not know these neurofibromas can bleed and are below the fatty layer of skin. It’s impossible to remove them in just a standard examination room!

It was hard to go from Nashville where I had the clinic as a central hub for all of my NF concerns, and then move to a city where you have to start all over. And it was a bit like that when I moved to Edmonton too. My doctor here is an MS doctor, and he’s willing to work with me, but still isn’t immersed in NF.

HOW DID YOU MAKE THE TRANSITION FROM HAVING A CLINIC OF EXPERTS MANAGING YOUR CARE TO HAVING TO BECOME YOUR OWN EXPERT?

I have a package now for when I see doctors. I have all my medical history, timelines, and a condensed summary so I have everything prepared. Then if a doctor says something to me that I know is wrong, I’m able to refute it. They don’t always like that (some of them get a bit miffed), but it’s my health. There’s only so much that I’m just going to accept. Whenever I have a bad experience with a doctor, I have no problem standing up to them or looking for another doctor. I think that’s more common of an attitude in America than in Canada. But it would be nice if there were more NF clinics in Canada. In Alberta, there are many people with NF but we still have no clinic. It would make sense to have one here.

WHAT HAS BEEN YOUR HARDEST CHALLENGE OF LIVING WITH NF?

The hardest challenge for me was probably seizures and then an optic glioma. But I’m very lucky that those have both stabilized. My current challenge is that I have plexiforms on both of my outer ankles. The one on my right was removed, and the one on the left was small enough that it didn’t need to be removed. The issue with my right leg is that the plexiform has invaded a lot of my muscles so even though it was removed years ago, I’ve now developed a lot of balance issues and pain associated with the plexiform. Some days I can’t walk straight which causes pain in my knee. I have begun to develop osteoarthritis as a result.

As I’ve gotten older, I’ve realized that removing a tumour doesn’t mean that the problem is gone. It’s been ten years now since the plexiform tumour on my ankle has been removed, and it only gets harder every year. I have other neurofibromas along my stomach and spine, so I can’t do some things like sit in some chairs, or carry certain backpacks. Overall, I would say I’m fairly lucky as all of my tumours are subdermal. I’ve never had to face teasing or being ostracized. So I count myself lucky.

HOW DO YOU COPE WITH THE PAIN?

I made a decision to only rely on opioids if absolutely necessary. I actually use a form of meditation and mindfulness to try to separate my brain from the symptoms. I’m not a professional, but I learned through videos and a mindfulness program. When my pain was at its worst, I did microdose with cannabis at night to help sleep.

HOW DO YOU MAINTAIN A POSITIVE ATTITUDE?

I’m a very stubborn person. I think I was just born with tenacity and the ability to speak up. Some people do struggle with their NF and it overwhelms them, but that’s not me. I remember as a kid, my teachers didn’t want me to take any advanced math courses. So I forged my parents’ signature and forced my teachers to allow me to take those courses. I’ve never let NF define or stop me.

WHAT ADVICE WOULD YOU GIVE TO SOMEONE WHO IS STRUGGLING WITH AN NF DIAGNOSIS?

What has always helped me is that I’ve had external passions and developed an identity outside of my NF. You can’t create your own identity; you have to discover it. For example, I love cycling and traveling. Those are my passions that pull me forward.

ANY LAST WORDS?

Through all of these things, I’ve never let my NF stop me. I will say that people do underestimate how many people with NF struggle with learning disabilities and social interaction. There’s much more to NF than just tumours.

Jaxon Gauthier is a six year old boy who lives with his family in British Columbia.

He lives with neurofibromatosis type one (NF1) but despite his challenges due to NF1, Jaxon enjoys school and playing with his friends like every other six year old. “He loves playing Lego, colouring, and playing pretend games using his imagination to the fullest,” shares Jaxon’s father, Mike. Jaxon was diagnosed with NF1 when he was just two and a half years old. “We noticed a difference in his walking ability, later to find out he had a leg discrepancy,”

Jaxon receives all his care at BC Children’s Hospital. At the time of his diagnosis, Jaxon also had many café-aulait spots. At the age of five, a large plexiform tumor in Jaxon’s back was discovered. The tumour runs down through Jaxon’s pelvic bone, through the front of his legs, and the back of his thigh, his dad explains. The tumour was causing Jaxon to have severe pain in his leg. The doctors started Jaxon on chemotherapy for the plexiform tumour.

Jaxon also has to take several other medications to prevent the negative side effects of the chemotherapy. He will be having an MRI in February to rule out cancer; which will be determined by the growth rate of the tumour since it was discovered. “This is going to be a very scary time for us, but we are hoping for the best and always looking forward to the future, new treatments, and the ability to hopefully end NF,” Mike shares. “The doctors also noticed a small plexiform tumour on Jaxon’s hypothalamus (a portion of the brain), and a small abnormality in Jaxon’s neck,” shares Mike. Jaxon also has minor scoliosis (curvature of the spine), which is starting to become more pronounced as he grows.

IT HAS BEEN HARD FOR OUR FAMILY TO COME TO GRIPS WITH JAXON’S DIAGNOSIS

Jaxon inherited NF1 from his mother, and several other family members also live with the disorder. “We just want Jaxon to be like the other kids and be able to ride a bike, play soccer, or even just go out for a nice walk without pain,” Mike explains. Jaxon has two brothers, one who also has café-au-lait marks and has also been diagnosed with NF1. “At this time, no other problems have been discovered for Jaxon’s younger brother Emerson,” says Mike.

When asked what advice Mike would offer to parents of children newly diagnosed with NF1, Mike offer this: “Fight for your child. You are the only one who can get things done, believing what you know. You know your child better than anyone. Do not take no for an answer.”

Mike explains that his family has fought very hard to fight for his son so that he can have the best medical care and quality of life possible.

“The BCNF has helped us by providing information which is available online for us and other families with the same disorder.” Mike shares that he and his family frequently use the BCNF website to keep up-to-date on information and research regarding NF.

Mike shares that although it breaks his heart to witness what people with NF deal with, he will help in any way he can. “I will do whatever I can to make the pain, discomfort, and hurt stop for my family and others living with NF.”

UPDATE BY JAXON’S DAD, MIKE GAUTHIER
In October we were given a chance to apply for Jaxon’s Make A Wish Foundation as he was undergoing chemo and was under extreme observation for the NF tumours that run up from his back and leg and the one in his head. Jaxon was on heavy medication and it was great to have something to look forward to.

At this time we contacted the Make A Wish Foundation. Our experience here was incredible! From our first meetings they made Jaxon feel extra special bringing him presents and then making his wish to go to Disney World come true. They gave us enough memories to last a lifetime!

 

THE IMPORTANCE OF STORYTELLING AND LIFE WITH NF

AN INTERVIEW WITH STACEY KINLEY

IMPORTANCE OF STORY TELLING

I wanted to share my experience with NF because it’s so important to share your story, especially for people with NF. My daughter Mackenzie who has NF1 has a very visible tumour and I worry she will be teased at school. If you have a child with cystic fibrosis, people understand what that is and won’t be scared of it. But Mackenzie doesn’t look like everyone else, and we don’t want her to hide because of it. I don’t want her to grow up without confidence. She’s beautiful and kind and wants to be friends with everyone. We want to encourage her friends and people to ask questions about her. We want to show people that there’s more to Mackenzie then just her epilepsy and NF.

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Stacey is a mom from Alberta who opened her heart to share the family’s journey with NF.

 

ON HER CONNECTION TO NF

We have two girls: Mackenzie and Hazelyn. Mackenzie turns four in one week and has NF1 from a spontaneous mutation. When Mackenzie was two days old, she began to have seizures while we were in hospital. As I’ve worked with adults with disabilities, I recognized the seizures when they first happened. But I didn’t want to be the stereotypical, panicked new mom and I just wanted to go home. So I didn’t say anything to the doctors; only my husband. The lactation nurse noticed the seizures. She was the one who encouraged me to say something. The paediatrician reassessed her a few weeks later and she told me, “Since Mackenzie is awake you can drive her. If she wasn’t awake, we’d get you an ambulance. But they’re waiting for you at the hospital.” I was trying so hard not to cry, looking at the ceiling, trying to compose myself. We drove to the hospital, and the rest seems like a blur. They did an MRI and saw that she has cortical dysplasia. They’ll never know if the epilepsy is a cause of NF or separate, but we treat them separately regardless. We were told that if she didn’t get control of the seizures by the time she was six months old, she would have infantile spasms. And those began before she was even two months old, which led to brain surgery before she was 13 weeks old, to resect the area of her brain that was having seizures. While the surgery did stop her spasms for just over a year, she began to have seizures caused by another part of her brain. She’s now been diagnosed with refractory epilepsy, as she hasn’t responded well to a variety of medications. Her seizures come and go now. We’re grateful for the times when there are no seizures, as this is when she can develop and grow. The seizures have become a part of life now.

ON FINDING TREATMENT

When Mackenzie was three months old, we noticed an abnormality beside her right eye. As it grew with her, her neurologists assured us it was nothing to worry about. But at nine months old, I noticed spots on her. This was when we first heard from our pediatrician that Mackenzie may have NF. We went to a geneticist and discovered six months later (which felt like forever) that she did have NF1. Since then, Mackenzie has had two debulking surgeries to try to resect the mass that surrounds her eye. While the eye surgeon was determined to fight and remove this tumour, other doctors discouraged the surgeries as it only “angered” the tumour.

I read about MEK inhibitors, but we were unable to get selumetinib in Canada. We tried trametinib last January at Toronto Sick Kids and we were there for nearly five weeks. It took nearly a year for me to convince Mackenzie’s doctors to help us get her into the trial. We were put in touch with a social worker who helped us find funding to relieve the financial burden of travelling across the country so frequently. We now go to Toronto every three months for follow-ups.

Mackenzie has one tumour around her artery, and another tumour on the left side that goes around her carotid artery, up to her jaw bone, around her ear, and into her arm, shoulder, near her spine, and the top arch of her aorta. She has another tumour at the base of her skull. We’ve seen a shadow on her heart during echocardiograms. But there’s nothing to be done to it, unless her lips go blue or we see any other major signs. The drug has made a very minimal decrease in actual tumour growth, so now we’re monitoring her and are going without the drug to let her enjoy her summer.

ON THE MEANING OF MILESTONES

I had to tell my husband one day that we have to grieve. He didn’t understand. Mackenzie was alive, what was there to grieve? But I told him that there are certain aspects of parenthood that we need to grieve, given Mackenzie’s diagnosis and ongoing struggles, and we need to find a way to do that together. We don’t know if she will be able to get married, finish school or, at that time, even walk. We came into parenthood thinking we knew what our milestones were going to be, but now we don’t. He finally realized what I was trying to say and said he didn’t want to think about that. But we have to so we are prepared for milestones that may not come. So now we celebrate everything! Everything comes at a different pace, but every milestone of Mackenzie’s comes with celebration, hoots and hollers (I’m sure our neighbours think we’re crazy). She didn’t walk until she was two years old, but she does now. She’s in the process of developing her speech with the help of a speech pathologist.

ON HAVING A SECOND CHILD AS PARENTS WITH NF

Now that we have a second child, we’re constantly monitoring and analyzing our youngest for signs that something may be wrong, despite the doctors saying there’s only a 1% chance that she has NF. It really takes a conscious effort to not be anxious or overly critical all the time. We had an appointment with our youngest daughter’s pediatrician, and our doctor asked if we had any questions. I said, “What’s normal now?” She began to explain what seizures look like, but I understood that. When your child is having upwards of sixty seizures a day, it isn’t hard to identify them. I wanted to know what normal looks like now for us. And she had no answer for us at first. But she helped explain what movements indicate a trip to Children’s [Hospital] and what are just regular movements(because they can be hard to distinguish).

Hazelyn’s milestones now are surrounded with more happiness then McKenzie’s. When Hazelyn smiles, we’re so happy to see this milestone. But with MacKenie it was “there’s a smile but she should have smiled months ago” and it was filled with much more sadness. Now we’re just able to enjoy these moments.

ON SELF-CARE

It’s hard to find time to myself. My husband and I went away before Hazelyn was born, and we try to make time for date nights. But I try to make time for other moms too. I try to be there for the moms whose children are recently diagnosed and are overwhelmed by the medical system. In fact, just being there for them is therapeutic for me. Being able to help someone find those necessary resources that I couldn’t is gratifying for me. Being able to talk to moms is gratifying because I didn’t do that. I stayed inside all day with the windows drawn after I first had Mackenzie. There was a permanent divot in my couch from just sitting and nursing her all day long. I stopped taking care of myself. I put on weight and now I’m not as active. The stress alone of having a child with NF is really tough on you emotionally and physically. I didn’t care about what I ate, and even going for a bike ride wasn’t fun when Mackenzie didn’t have enough muscle tone to be in the bike trailer without me feeling guilty.

ON IDENTITY AND NF

We didn’t want to tell people that Mackenzie had epilepsy for the longest time. We didn’t want that to be a part of who she was, or how she was identified. But we know now that NF is a part of who Mackenzie is, and in order for our family and friends to understand our struggles, they need to know the whole story. One time, I was talking to my co-worker about Mackenzie and unintentionally said that we have epilepsy, our family. But she understood. Because Mackenzie’s epilepsy affects more than just her – it’s a part of our family and who we are.

RESILIENCY

People ask how we do it, with all of Mackenzie’s struggles – but you just do it. That’s what parents do. Parents with NF understand that you have to take it one day at a time, one diagnosis at a time. Because if you do it any other way, you’re going to be drained emotionally and you aren’t going to able to care for yourself and your kiddos.

Interviewed by Desirée Sher

In June, 2008, Jeremy De Silveira was awarded an Educational Scholarship from the BCNF, which he went on to use at the British Columbia Institute of Technology (BCIT) after graduating from high school. Jeremy finished a program in Computer Systems Technology in December, 2012. “I heard about the scholarship during my senior year of high school and I thought I’d try applying for it because I knew I wanted to go to college. I didn’t want NF to hold me back,” tells Jeremy.

After completing the program at BCIT, Jeremy immediately began his search for employment in the computer industry, but unfortunately has not been able to find a job in that line of work. “It seems every employer is looking for past experience in the field, so I started looking for jobs in other areas,” Jeremy shares. He was determined to obtain work and was employed at a grocery store. Unfortunately, due to a lack of understanding and patience regarding NF by his boss, Jeremy was recently laid off. Jeremy continues to work on broadening his computer skills on his own time in order to increase his employment options.

NF has affected Jeremy's mental processing and his ability to retain information which has been a challenge in his schooling. “In high school, I had the challenge of keeping up my good grades by spending so much time on my homework that I didn’t have much of a social life.” He also had to overcome struggles in college at BCIT. “The workload at BCIT for the full time program got too overwhelming for me in the third semester.” Jeremy decided to finish the rest of the courses on a part-time schedule. It took quite a bit longer, but the important thing was that he succeeded in completing the program despite the struggles NF brought his way.

In addition to his learning disabilities, Jeremy was bullied growing up due to speech delays. “I had a hard time making friends and keeping them all throughout school,” tells Jeremy. “Since I was bullied so much, I became very shy which is something I’m still trying to overcome.” Jeremy shares that he still sometimes has trouble speaking clearly and articulating his thoughts, especially when excited or upset.

Jeremy enjoys playing video games, anime, and everything related to computers. He has overcome many obstacles and has not let NF stop him from achieving his goals. His strong work ethic and determination in life are to be admired and will take him far.

Andrea Meadows lives with NF1, but she has never let the disorder define her life or stop her from achieving her goals.

Andrea received an Educational Scholarship from the BCNF in 2006. She used the scholarship to begin her schooling for her Early Learning and Childcare (ECE) Diploma, which was a two year program at Keyano College in Fort McMurray, Alberta. She has spent the last three years at Vancouver Island University in Nanaimo, BC, and recently graduated with a Bachelor of Arts in Child and Youth Care. She still plans on doing either a Master’s program or a business program in the future. “I worked part time in after school programs and residential homes while in school,” says Andrea. She is currently working full time at a daycare and hopes to find a full time position in the Child and Youth Care field. “I also do gardening and odd jobs for people in my neighbourhood on weekends and evenings.” When Andrea was six months old, her mother, who also suffers from NF1, noticed birthmarks on her daughter and suspected that she may have the disorder. She saw a doctor at that time who said it was likely that she had NF1. When she was a teenager, she was sent to a genetic specialist due to sore knees and a sore hip. It was then, at fifteen years old, that the diagnosis of NF1 was confirmed. “NF has never really affected me too much,” tells Andrea.

Andrea shares that the children she works with are often curious about the marks on her body. “I explain to them that I have had them since I was born, just like some people are born with brown eyes and some people with blue eyes,” tells Andrea. She says the kids think it is neat because they see shapes in some of her birthmarks such as a butterfly on her shoulder. Although she is not sure if her current boss knows about her NF, Andrea shares that she is very open and honest about her condition. “I am not afraid of ever being fired or judged due to my NF,” says Andrea. “I work in a field that is supposed to be very inclusive of all people no matter their culture or disability.” Andrea shares that if anyone in the workplace ever judged her or viewed her differently because of NF (which does not affect her work performance); it is not somewhere she would want to work.

I HAVE ALWAYS BEEN VERY OPEN AND HONEST WITH PEOPLE AND NOT AFRAID TO TALK TO THEM ABOUT NF.

“I was teased about the birthmarks on my neck in school,” Andrea shares. She did not know much about NF when she was a child other than the fact that she had it. “I mostly ignored the teasing, but at some points in my life I became very withdrawn with the kids my age,” says Andrea. “I spent all of my recesses and lunch breaks being a crossing guard or monitor for the younger kids.” When she got older and learned more about NF, she was
able to explain to her peers why she had the birthmarks and what they were. “I was then able to laugh off the comments and teasing,” shares Andrea. “I have always been very open and honest with people and not afraid to talk to them about NF.”

Since Andrea works with young children, she has at times noticed suspicious, numerous birthmarks on some of her students. She hesitates to mention NF to the parents. “Approaching parents about something that may be 'wrong' with their child is a very difficult thing to do. I have had good experiences and very bad experiences in the past when talking about behaviours or delays the children I work with may be experiencing,” Andrea shares. “I have mostly just seen a few birthmarks on the kids. If I was really concerned, I would definitely approach the parents.” Andrea also worries about future children of her own. “I am nervous about how badly my future children could be affected,” says Andrea.

When she is not working, Andrea loves kayaking, gardening, walking, and camping. “Now that I am finished this part of my schooling I hope to have the time to spend on my hobbies.”

To some people, neurofibromatosis is a curse. It’s a disorder that causes painful tumors, deformities and life threatening illnesses. For me though, it’s something that has made me into a better person, and it’s something that I am beginning to appreciate. I am the only person in my family living with NF, meaning I was a “spontaneous mutation”. For a long time, I felt like an outsider, I felt different than everyone else. All I wanted was for someone to tell me I was going to be okay, and that my NF would not take control of my life. Although I wanted to be reassured about my condition, I didn’t want any of my friends to know about my NF. My friends had no idea that I was diagnosed with a brain tumor, scoliosis, daily chronic headaches, growth hormone deficiency and two tumors in my pelvis all within four years of each other. It sounds silly; to be afraid of people thinking you’re a “freak” for having some kind of disorder, but high school can be a cruel place. All anyone wants is to fit in and be normal. Nobody wants to be the “sick kid” or the “weird one”. All I wanted to do was be a normal teenage girl. It wasn’t until I attended an NF symposium in May of 2011 that I began to understand that I shouldn’t hide my NF, because it makes me a special and unique individual. While I was at the symposium, I had the amazing opportunity to meet Reggie Bibbs, from TLC’s My Brand New Face. Reggie also has NF, and it was through his great bravery and determination that I was able to find my own strength and courage. During Reggie’s speech, he said “Without fear we have no courage, and without courage we have no fear.” Those words stuck with me for weeks after the symposium, and really made me think. Why was I so scared of people finding out about my NF? Why was my fear getting in the way of me living my life to the fullest? That was when I decided it was time to “come clean”, and tell my friends about my condition. It all started off with a simple note posted on Facebook about my life, and how NF affects me. To be honest, I was absolutely terrified of how people were going to react to my post. I was definitely surprised when I came to school the next day and had people coming up to me and hugging me, saying that I was “amazing”, “strong” and “brave”. I was so happy. I went home that night the happiest I had been in weeks. I felt like a huge weight had been lifted off my chest, and that I no longer had to hide anything. Soon after my note was posted on Facebook, I decided I was going to write an article into my local paper to try and raise awareness for NF. The article was a hit. People were coming to me saying that they “had no idea about my condition” and even people were admitting that they had no idea what NF was! NF has sculpted me into the person that I am today, and it has made me a more honest, down to earth and truthful person. Although I have faced many different obstacles with NF throughout my life so far, I’m slowly learning that I can get past them. I used to think NF was a curse, and that I would never be the same as anyone else. Now I know that it is far from a curse, it is actually a blessing in disguise, as it has made me a stronger and more determined person. Courtney Willoughby

LOOKING FORWARD TO TODAY

Danielle Catharina Lyons, known as “Dani,” is a four year old little girl who lives each day to the fullest and enjoys each moment. She is a carefree child who looks for the fun in each day. Dani has a twin sister, Paige, and an older brother named Brandon. Dani’s mother, Andréa, shares her experience with Dani’s recent Neurofibromatosis Type One (NF1) diagnosis and how it has affected her family.

Earlier this year, Dani visited a dermatologist at BC Children’s Hospital for an unrelated issue. It was then that the doctor noticed café-au-lait spots, bone deformities on her legs, a larger head circumference and some developmental delays as compared to her twin sister. The doctor suggested that they explore the possibility that she may have NF1 and that she be seen by an ophthalmologist to see if there were any eye abnormalities that are associated with NF1. At their visit to the ophthalmologist on April 23, 2013, it was discovered that Dani has Lisch nodules on both of her optic nerves and the unfortunate diagnosis of NF1 was confirmed. From that moment, the Lyons’ family would be forever changed.

Although the news was shocking and upsetting to Dani’s mother Andréa, within 24 hours she jumped in with both feet ready to face the situation head on. “When I found out – I was really fairly quick coming to terms with it. As a parent all you want to do is take away their pain and you would gladly exchange places with your child so they do not have to feel one iota of suffering,” explains Andréa. “However, when I learned about NF1 and learned that there was no cure, I was quick to decide that I was going to learn all I could, be an advocate for raising funds, and help mitigate any symptoms for her the best I could.” Andréa quickly learned about the NF foundations in the States and was in contact with research centers at BC Children’s Hospital. She even signed up for a marathon and immediately started an awareness campaign and fundraising.

At the time of this interview, Andréa has fundraised just over $7,200 and has two more fundraisers planned for the near future. All of the funds raised will go directly to the BCNF.

DANI ISN’T CONCERNED PAST THE END OF THE WEEK. SHE IS JUST LOOKING FORWARD TO TODAY – WHAT FUN SHE WILL HAVE AND HOW HAPPY SHE CAN BE IN THE MOMENT

“We have reached out to our local community including fire fighters and friends, and they have come back in spades with their generosity,“ tells Andréa. Andréa is quite familiar with the local fire hall, due to her involvement with Search and Rescue and her career in emergency management. After being featured in her local newspaper to highlight an upcoming fundraising event, she received a call from her local fire hall. "They expressed their sadness when learning of Dani's condition, and asked that I bring Dani down to the fire hall for something." When they arrived, all three of Andréa’s children were treated to fire truck tours and even got to pull the fire truck out of the hall with the lights on. “Then the crew on shift presented Dani with a card (inside was a $500 cheque) and a stuffed Dalmatian dog with a fire hat on – which hasn’t left her side.”

Another fundraising contributor is Andréa’s staff at BC Hydro where Andréa was a profiled employee for a few weeks and was able to promote the cause. Through this, she managed to raise approximately $750. A local grocery chain called Thrifty Foods has also been a huge support. Through their generosity, approximately $3,000 has been raised at fundraising events.

When asked about the challenges their family has faced since Dani’s diagnosis, Andréa explains how hard it is to wait for doctors’ appointments and not knowing what to expect for her child’s future. “It’s like watching a storm come in off the ocean… you don’t know if it’s going to hit the shore or just sit out on the water,” Andréa shares. “Right now we are waiting to see if there is another wave coming at us and getting ready to batten down the hatches in case the storm does rage.”

Like all mothers, Andréa has hopes and dreams for her daughter. “When I first learned of the diagnosis, my heart stopped for a moment and I wondered if I would ever be able to see my little girl walk down the aisle and get married – funny how I went straight to that life event, but nevertheless I did.” Andréa shares that in the short amount of time since Dani’s diagnosis, her daughter has taught her a significant lesson: to live each day to the fullest and be happy in the moment. “Dani isn’t concerned past the end of the week. She is just looking forward to today – what fun she will have and how happy she can be in the moment,” shares Andréa. “I hope for her to continue to live in the moment and take each day as it comes in her determined little way.” Dani has already expressed interest in becoming a doctor and likes to “treat” everyone in the house. “She has a little doctor’s kit and puts Band-Aids on her siblings.”

Andréa hopes that Dani finds her passion in life and follows it with every fibre of her being, despite the inevitable challenges she will face from NF.

My name is Elena. I was diagnosed with NF at the age of 7. I found out when I went to the BC’s children hospital in order to have a tumor removed from leg I had broken earlier that year. At this time I was only diagnosed with NF and the tumor was not removed. I ended up breaking my leg 3 more times when they decided to operate. I wore a leg brace for the good part of my childhood. At age of 12 is when I had a bone graph done. They took some bone off my leg and replaced it with some bone from my hip. I have been very fortunate not to have other major issues due to NF. At the moment I have several lumps that I hope can be removed someday. I have people judge me for how I look sometimes. Many people do not understand why I have these bumps. I am hoping to meet more people through this site who have NF. Elena Turi

I was diagnosed with NF1 in 1962 when I was six. Prior to that, I had yearly visits to the cancer clinic at University Hospital in Saskatoon. My mom and the doctors were concerned about the tumour growing on the left side of my nose. Mom suspected that the forceps used in my delivery were the reason for the tumour. Mom was very protective of me, afraid of me injuring my self and having more tumours starting. I was ten before I could ride a bike without training wheels. August of the summer when I was six brought the annual trip into Saskatoon visit to the cancer clinic, and the back to school shopping for the first time. The summer trips to the city always meant a night in a hotel, usually the Senator, and a movie with popcorn. This time, I was Dr. Brown, who actually diagnosed me. He referred me to a plastic surgeon. He decided to wait a year before performing the surgery to remove the tumour. I started my first year of school in the village of Birsay, along with about twelve other students, who I did not know as I grew up on a farm and had not met them in the circle of my mom’s friends. I was teased because I looked different. I was devastated when my first school picture did not turn out. Even as a child I suspected the photography company did not print the pictures because of that tumour. I eagerly anticipated the arrival of the summer holidays, not for the release from school, but the hope that when I went back in September, I would look normal. The surgery did improve my appearance, but the tumour gradually came back. My next surgery was the Christmas of grade ten. That was a long and invasive procedure. The plastic surgeon cut my upper lip in the middle then proceeded to cut along the side of my nose up to the corner of my eye. He pulled the skin back and the removal began. They surgical team had to scrap the plexi-form tumour from the spongy tissue of my cheek bone. I was put back together and sent to the recovery room about five hours later. When I woke up the next morning, my face was bandaged and swollen, my eyes were black, and I had a drainage tube up my nose. A few days later, the drainage tube and bandage was removed. My face was still badly bruised and swollen. The healing process took several months. I had several minor surgeries to lift the left side of my lip, every time it was fixed, it would let go in a few years. Finally after moving to BC, I met a new plastic surgeon who used a piece of tendon from my left arm instead of wire. There is still a piece of wire anchored to one of my upper teeth. It took a few minutes to explain that to my dentist when he took ex-rays. Years later, after mom and her sister had both passed away, I was given some letters mom had written my aunt. She told my aunt that I had just been diagnosed with NF, and that that is what their dad had died from. Prior to that all I had been told was that Grandpa died of a brain tumour at the Mayo Clinic in Rochester in 1939, and that they had kept his brain. So, now I assume that my mom had a very mild case of NF 1, she did have a few pale café-au-lait spots, but I never gave it much thought. Aside from the tumour surgeries, most of the manifestations of NF do not interfere with my day to day life except for the fatigue. I have several small tumours, liche nodules in my right eye, high blood pressure, scoliosis, and several lumps and bumps on my midriff. I chose not to have children because of the NF. I was able to have a tubal ligation in my mid-twenties because of the genetic reason. I currently live in B.C. with the love of my life and our four cats. I am looking forward to retirement in just over three years in anticipation of getting away from the rat race of the greater Vancouver area.

Jeneece Edroff is a nineteen-year-old
philanthropist from Victoria, B.C. who is known to many on Vancouver Island as “the Penny Girl” for her fundraising efforts – she has been credited with raising more than $1.5 million through penny drives, beginning at age 7.

Jeneece has Neurofibromatosis Type One (NF1) and has undergone multiple surgeries due to the condition. Despite her struggles, she has always been determined to help others facing similar hardships.

Jeneece’s latest fundraising accomplishment was to create a home-like facility called Jeneece Place for families enduring medical treatments in Victoria. Dealing with a childhood illness is stressful for the entire family. Having a home away from home while undergoing medical treatment helps ease that stress for families.

Jeneece’s mother, Angie Edroff says, “Over the years when traveling to Vancouver for Jeneece’s medical care we spent a lot of time at the Ronald McDonald House. There were times we could not get a reservation there because the house was full. It was at these times that Jeneece mentioned that maybe we should help them build a new Ronald McDonald House in Vancouver.”

The Edroff family tried several times to make that happen, but they kept running into obstacles along the way. “When talking with some folks in Victoria, they asked Jeneece what she wanted to do next. She spoke about her wish to build a new Ronald McDonald House in Vancouver and the roadblocks. It was then that we learned that there was a need for such a house right here in Victoria.” To Jeneece, building a home in her own community that would serve the people on Vancouver Island and the Gulf Islands was far more than she could have dreamed of.

Jeneece Place opened its doors in January of 2012. It is a comfortable “home away from home” for families facing medical treatments at Victoria General Hospital. Jeneece created the floor plan of the house, for all three levels. The architect took those plans and did his best to put what she wanted into the house. This included a movie room, games room, and an arts and crafts room. The house is a 10,000 square foot, ten-bedroom facility. It has a very welcome and peaceful environment along with the many comforts of home. The house is decorated with artwork donated by local schools and artists, including a giant penny that Jeneece helped sculpt.

Jeneece is an ambassador in the house while a housemother is in charge of the house and all the volunteers. “On holidays we go and cook for all the families that are in the house at that time,” says Edroff.

The house took nine months to build and was built with the help of more than 2200 gifts, from a few dollars to $1 million. The Edroff family is looking to build another house on the island by the hospital. “Jeneece Place is now full more than fifty percent of the time so there is a need to build another one”. Jeneece also has dreams to build a house in Nanaimo. In addition to her fundraising for Jeneece Place, Jeneece has been involved in fundraising for the Easter Seal’s 24-hour Relay, the BCNF, BC Children’s Radiothon for the Kids, Cops for Cancer and is a Junior rider in the Tour de Rock.

Jeneece finished high school in June, 2012. She would like to become a Child Life Specialist and plans to help out at Camp Goodtimes, a camp for kids living with cancer, this summer. She also has dreams to volunteer at the local hospital. This fall Jeneece wants to start at Camosun College to further her learning. “She likes to play guitar, and is learning the ukulele,” says Edroff. Jeneece continues to face medical challenges due to her NF and will soon be undergoing yet another surgery, this time at the Mayo Clinic in Rochester, Minnesota to remove a plexiform neurofibroma from her right leg.

For more information on Jeneece Place or to make a donation, please visit jeneeceplace.org.

Jesse is a vibrant young 5 year old boy who as well as having NF (passed on by his father Chris) was diagnosed in November of 2009 with type 1 diabetes and has multiple insulin injections daily. When he was 2 years old there was a neurofibroma discovered on his optic nerve. He makes a yearly trip to the Hospital for sick children in Toronto for an MRI to make sure the tumor hasn't grown, and isn't affecting his vision, thankfully to this point the growth has been very minimal. Through all his troubles with both diseases Jesse makes no complaints and does everything a healthy 5 year old would do. He is such an inspiration to our whole family. Contributed by Jesse's parent, Chris

NEVER GIVE UP

It's the motto that many patients with NF2 live life by. This certainly holds true for the Viitanen family. Twenty-four year old Jessica and 20 year old Elissa of Delta, B.C., both have NF2 which they inherited from their mother Kaarina.

Since they had a known family history, the doctors knew to check the girls with MRIs, and sadly they were both diagnosed as children. “Some people have assumed my sister having NF2 made it easier to deal with because we could relate to each other’s experiences and we wouldn’t have to deal with it alone,” tells Jessica. Jessica explains that it is very difficult knowing her baby sister has tumours and will end up deaf one day. “I’d do anything to bear that burden for her.”

Jessica and Elissa’s mother, Kaarina, also lived with NF2. She passed away when Jessica and Elissa were small children, ten days after celebrating her thirtieth birthday. “She had dozens of tumours all over her spine and a big one in her brain that eventually killed her,” tells Jessica. She didn’t let that stop her from living her life though. Despite being fully deaf, Kaarina still played the organ at church. She had a friend type the sermons on a laptop so she could follow along with the church service. The same person still types for Jessica and Elissa at church. Kaarina exchanged long letters with a close friend from the United States for many years. After she passed away, the letters were published into a short book which the girls can now look back on in memory of their mother. “One thing I noticed in the book was that she never mentioned NF2 and didn’t worry or complain about her situation,” tells Jessica. “Instead she wrote about all the good things in her life and the things that brought her joy, like Elissa and I.” She lived her life as a person who had NF2 but did not let the condition define how she lived her life.

Jessica, who recently finished schooling for applied business technology, explains the challenges of living with a hearing impairment. “It’s put up a barrier between me and the rest of the world,” tells Jessica. “The last job interview I had lasted less than two minutes. After the employer learned that I couldn’t hear, he refused to write down what he wanted to say and wasn’t willing to speak a little louder,” tells Jessica. She explains how difficult it is to have self-confidence in moving ahead in life and gaining employment when so many people are not willing to put in the effort or be accepting of differences. Since NF2 patients tend to lose their hearing gradually, the change from the hearing world to the deaf world happens slowly. “For me, this means I still think like a hearing person, when in most situations I might as well be deaf because I can never understand anything,” tells Jessica. Jessica, who is severely hard-of-hearing, explains that it would almost be easier to be completely deaf. “Of course I’d miss the sounds of rain falling on the roof, snow crunching under my feet, and birds tweeting in the spring.”

Jessica loves to renovate and build things. “I’d love to go to Mexico with a group one day to help build small houses or classrooms for less fortunate communities,” says Jessica. Elissa recently finished culinary school and is working as a baker in Vancouver. Jessica and Elissa are carrying on their mother’s legacy and will never give up! •

My name is John, and I have Neurofibromatosis – Type 1. At an early age my mother knew there was something different about me. My family doctor knew I had NF but did not say anything because “nothing could be done about it”. Another doctor formally diagnosed me in 1987. Neurofibromatosis was a scary and unfamiliar word at the time and my mother was devastated. School can be an unpleasant when you are different. I remember classmates calling me names such as “shit stain” and “lumpy neck”. I hated changing clothes in gym class because of my café-au-lait spots and remember going home in tears because of the teasing. My mother treated me like a normal kid. I was allowed to go outside to play, and grounded when I did something wrong. In high school the teasing subsided, except for one student who called me “bee stings” all year. I no longer cried, but it still hurt. In grade 11 we moved to the suburbs, a fresh start. I made new friends and started to fit in. All was well, or so I thought. In May 1996, I started noticing pain when I walked. I lost my balance and fell unexpectedly. My friend laughed but knew something might be wrong. Within a month my health had gotten worse and I could barely walk to school. I got an urgent referral to a neurologist whom upon examination, scribbled a note and told me to go straight to the emergency room. MRI scans at the hospital discovered multiple tumours growing along my spinal cord. One of which was causing a compression between C1 and C2 vertebrae. I was admitted for surgery to remove the tumour. During my two-week stay in the hospital, the friend who “laughed” at my folly visited me everyday. We still remain close friends. I spent the next six months in therapy learning to walk and do everyday tasks again. I started university in the fall of 1997. Still weak and walking slowly, It was overwhelming stepping onto campus for the first time. However, with hard work, support from the office for students with disabilities, and my mother, I was able to succeed. Four years later I graduated with new friendships, experiences, and a degree. With fate and a bit of luck, I found a job one month after graduation and have been working ever since. My employer has been accommodating with my disability. NF has never been an issue for me on the job. I’m not angry about my NF and accept it as a part of my life. Some days are good, some days are bad, but to me that is just life. I still get strange looks from people, which I now ignore. A few years ago while in the change room at the gym, a man asked me “What does the doctor say about you?” I understood the true intention of his question, so I told him I was not contagious. In 2009 I needed a vacation and decided I wanted to join a tour group to see the pyramids in Egypt. I was nervous about traveling alone and meeting strangers. Could I manage? What will they think of my NF? In the end, everyone was friendly and treated me with respect. One person asked me respectfully about my condition. I was happy to explain it was Neurofibromatosis and am glad I made the trip. Last year, complications from NF appeared again. This time, it was tumours along my lower spine between L4 & L5 vertebrae. Another round of surgery to remove tumors, 3 weeks in the hospital, and 6 months in therapy. Funny, I’m almost getting used to this now. There are a lot of difficulties people with NF face. Whether it is prejudice, depression, or complications resulting from NF. Some go through life without any complications. Others minor, and regrettably, some will experience extreme hardship. Is very easy to worry about NF and the uncertainty that comes with it. Don’t spend too much time worrying about you or your family member’s NF. This will end up causing unneeded stress. Instead of focusing on what the complications from NF might be, Focus on everything you can be. There is a world out there, having NF should not keep you from it. Choose to have fun, laugh, smile, pick up a new hobby, spend time with loved ones, enjoy and live life to the fullest. Do this and you’ll be too busy to worry about NF. John Huynh

Karen Thornton loves to fly. For her fiftieth birthday while on vacation in Lumby, B.C., Karen’s husband, Ken bought her a glider flight. “What a trip that was!” explains Karen. “When we landed, I couldn’t feel my feet on the ground I was so high!”

But that was only the beginning. Five years later, she was taken up in a motorized hang glider in Hope, B.C. Then, for her sixtieth birthday, her daughter gave her a flight in a hang glider. “The feeling of total freedom I get is indescribable!” exclaims Karen. Next on her list of things to try is paragliding.

Things have not always been carefree for Karen. When she was 18 years old and pregnant, doctors diagnosed Karen with Neurofibromatosis Type One (NF1). Unfortunately, Karen’s daughter, Kim, was also born with NF1 and had to have a tumour removed from her mouth shortly after birth. Karen also has a son, Dan, who did not inherit NF1.

Karen enjoys spending time with Dan’s two daughters, who are five and two. Karen is a spontaneous mutation, as her parents and siblings do not have NF1. Karen has lived with tumours on various parts of her body since childhood, but the pregnancy made the tumours grow and new ones to appear on her face and neck. “The biggest challenge for me was the fear of meeting people and not being accepted due to the visible tumours,” says Karen. “My interest in motorcycles and motorcycle riding (as a passenger only) is what enabled me to overcome my self-image hang-up.”

Karen and her husband bought their Honda Gold Wing motorcycle in 1990 and rode for a couple of years before they joined the Gold Wing Road Riders Association (GWRRA). “I was accepted for who I was,” says Karen. They became provincial directors in the organization and met hundreds of people. According to Karen, “I had never had so many people wanting to hug me!” To many people, owning a Gold Wing means buying chrome, lights, and accessories for their bikes. After becoming friends with the owner of a bike shop in Bremerton, Washington, Karen decided she would like to start her own business. She now runs a small, home-based business selling motorcycle accessories called Karen’s Krome. You can visit her website at karenskrome.com. •

ONE FOOT IN FRONT OF THE OTHER

Fifteen year old Robert McNaughton has a passion for running. Much like his love for running, he lives life putting one foot in front of the other and never gives up until he’s crossed the finish line.

Robert was diagnosed with NF1 when he was only a year old. In elementary school, Robert participated in cross country running. Despite weakness in his left leg, he gave it his all and never gave up, even if it meant coming in last place. “He never quit running until he crossed the finish line,” recalls his father Dave. Robert is now fifteen years old and continues to have a passion for running. “He practiced very hard on his own time and now in his grade ten year he is consistently in the top three in his class,” says Dave. Robert also enjoys taekwondo, and despite being held back a year, he persevered and is gradually moving up in his belt class.

Robert has had fourteen major surgeries due to his NF1. “They have caused much discomfort and time away from school due to recovery,” says Dave. When Robert was younger he had trouble with physical activity which limited him in playing certain sports. “His symptoms include a nodule under the skin below his right eye, numerous café-au-lait spots all over his body, and the right side of his face is slightly bigger.” Robert also has weak vision in his left eye and dental problems related to NF1.

Robert has a wonderful support system in his parents and grandparents, who are there for every surgery and are also very involved with BCNF. “Through this organization we were able to obtain much information, guidance and comfort when Robert was diagnosed with NF1.” Robert and his family raised over $4,000 in just two weeks for the BCNF Scotiabank Charity Challenge where Robert ran the 5 km event. “Robert wrote a personal letter explaining a little bit about his illness with a picture of himself attached asking for donations towards research in finding a cure.” Dave circulated the posters at his workplace, CN Rail.

“The response and generosity of my fellow employees was overwhelming,” recalls Dave. Over $2,500 was donated by employees at CN Rail. The McNaughton family also circulated the posters to friends, neighbours, and at Robert’s school where generous donations continued to pour in.

In addition to running and taekwondo, Robert enjoys travelling to Pokemon tournaments across North America, playing video games, cooking, the scouting program, attending his church’s young adults group, and graphic design. “Even though I have had many surgeries since I was a young child, I never let the recovery time discourage me,” says Robert. “When I am fully recovered, I continue doing the things I enjoy.”

I found out I had NF1 when I was 14 years old. This happened only because I developed a few strange lumps under my skin on my forehead, one doctor thought it may be fatty tissue, and another doctor thought he would remove them and just to be sure. 16 years, and 6 surgies later I am a semi healthy 32 year. I can’t say the journey was easy, but it was a lot easier then so many other peoples that I guess I feel lucky. The worst surgery for me was the removal of a 4 inch tumor that was on C1 and C2 of my spine in 2008. I was in the hospital for over a week and a half, and seem to have constant neck and back pain, most self inflicted because I tend to over do it, and enjoy going on the thrill rides that flash warning signs of not riding if you have back or neck injuries. For one thing I do know that bungie jumping is out. I have another one lower down on my spine that may need taken out eventually, but my doctor is afraid that it may effect the use of my hands, so for now we wait and watch. The hardest chose that I had to make was deciding not to have babies. For so long I hid the fact that anything was wrong with me, I guess I felt ashamed, and maybe I still do a little, because there is only a small number of people that know I even have this condition. But one night when I was about 19 I was bored so I googled NF and started reading about how each case was different, and how 50% of the time you can pass it to your offspring. Then I came across a website that had a few pictures of beautiful children and there struggles with NF. I don’t know why it hit me so hard, but it did. I got my tubes tiied a few months later. I also have a brother that has a disability that is not related to NF and one day when my mother is gone he will be living with me, so that also helped me desided that even though I have lots of love in my heart, and love children that if I ever did really want a child I would adopt one of the many out there that need a kind home, and someone to love because they to have a disability and somehow got left behind in a world where so many people do because they don’t match the perfection the society sometimes expects. I look at myself in the mirror everyday and my insecurities make me feel bad for the person looking back at me. I get upset over my forever increasing bumps, my constant headaches, and how I feel tired all the time, how a surgery makes one side of my face droop slightly, and how my heads a little larger then most peoples, or how my hair is pretty thin now. But I try to remind myself I also have a wonderful job working with people that have disabilities, I have a wonderful person that I want to spend the rest of my life with, I have a handful of friends that I love, and see all the time. I also have a great family that is everything to me, so I also am one of the lucky people that have alot of love in my life. I really believe that everyone should be treated as an equal, and you should be as nice as you can to those around you, because you really dont know what they are going through either, and every warm gesture of kindness helps a bit I am sure. The future is unknown to everyone, and I think that is even more so for us that have NF, everyday we wait to see what new thing we have to over come, what new bumps we get, new symptoms we may have, and maybe just maybe what cures they will come up with. To everyone that has NF may your future be long, and may you always find joy around every corner. Ronda Price

Ross Phillips is a 66 year old from Delta, BC, living with Neurofibromatosis Type One (NF1). NF1 has been in Ross’ family for five generations. His mother also had NF1, which was called Von Recklinghausen Disease at that time. Two out of four of Ross’ siblings inherited NF1, including Ross. Fortunately, Ross has a fairly mild form of the disorder and does not have any internal tumours. He has had a few elective surgeries to remove surface tumours from his skin. When asked how NF has affected his life, Ross proudly states, “I think it has made me stubborn. If someone says I can’t do something, I like to prove them wrong.” Ross has two children and two grandchildren, who fortunately do not have NF.

Eight years ago, Ross suffered a sudden stroke in his home while having a bath. He called to his wife who worked at Vancouver General Hospital (VGH), who knew his symptoms were that of a stroke. She called 9-1-1 immediately. Thankfully, Ross has almost fully recovered from the stroke, but he still cannot drive. Ross suffered brain damage and his brain does not receive messages from his eyes. His balance is also affected.

Ross is now retired, but he worked in the software industry for ten years. Before that, he worked for the Hudson Bay Company, managing all of the restaurants in British Columbia. In his free time, Ross loves painting and sketching. He also enjoys working with stained glass. He used to enjoy pottery, but hasn't done much of that lately. Ross used to be a long distance runner and has always had a passion for running. Even after all of the challenges Ross has faced due to his stroke, he still walks/runs three miles a day. Despite a few falls due to his poor balance, he puts one foot in front of the other and never gives up!

Ryan is a grade ten student from Vancouver Island, living with Neurofibromatosis Type Two (NF2). He loves video games and sports and is a walking encyclopaedia when it comes to sports teams and players, especially hockey. Ryan’s favourite team is the Washington Capitals and he even had a Make-A-Wish trip granted to meet his favourite player, Alexander Ovechkin.

Ryan’s mother, Simone, shares her son’s experience living with the disorder and how it has affected his and their entire families’ lives.

“Ryan was seven years old when he was diagnosed with NF2,” shares Simone. Initially he was misdiagnosed with Cerebral Palsy due to the symptoms he was experiencing. “He was falling down all the time, and after bringing him to the foot specialist, it was found that his entire left side was very weak.” She recalls wondering why it was taking her son so long to learn to tie his shoes and button up his own pants. “He had compensated so well with his right side that the weakness on his left side went unnoticed.” Ryan was put into casts and then into a brace to correct his walking, but by the end of the summer things had gotten worse. “His first day of school he could not even hold his head up to sing O Canada,” Simone recalls. It was after this incident that Ryan was rushed in for an MRI where a tumour the size of a grapefruit was discovered to be compressing his spinal cord. “He was rushed into surgery.” Unfortunately, this surgery was not the end of Ryan’s fight with NF2; throughout the years, more tumours have appeared and continuously grown. “His journey with NF2 has been one that has been a struggle at times, but one that has thankfully been closely monitored by the many amazing doctors he has seen.”

Simone recalls how difficult the first few years of Ryan’s diagnosis were on her family. “Our younger son had to go on the back burner many times while dealing with surgeries or appointments for Ryan. You can imagine the strain dealing with a sick child has on a relationship. I cannot speak for everyone in the family, but for me, it has made me realize that nothing in life is guaranteed, especially your health.”

Simone hopes that her son’s future will be fulfilling and filled with happiness. “I remember when he was born, counting his little fingers and toes and counting my blessings that we had a healthy baby, and while things did not turn out the way any parent would ever imagine or want, he is here with us and he is a handsome and strong young man. I hope that as he becomes an adult he finds someone wonderful to share his life with and to be by his side throughout this journey and to make him always look up and live life to the fullest.”

Simone shares the most profound moment in her son’s journey with NF2. “The kids in class had made kites to send up to heaven with their wishes.” Most children wished for typical childhood pleasures like puppies and Lego sets. “Then I got to Ryan's kite. On his kite was a little box with a First Aid symbol and it said simply, my dream is to heal.” She still has the kite to this day.

“I cannot make this go away for Ryan and I know that both his father and I would take it on in a heartbeat to spare him. All we can do is hope that Ryan's journey with NF2 has as few hurdles as possible and that someday a cure is found.”

To Sarah Gorden, being able to hear her husband say “I love you” is a miracle. Four years ago, Sarah had to undergo a surgery which took her hearing. Living with Neurofibromatosis Type Two (NF2), she had tumours on both sides of her brain, affecting both her hearing and balance. When the larger of these two tumours had to be removed, she had to sacrifice her only remaining hearing. Stepping into a now silent world was difficult, but there was hope.

“I connected with other NF2 patients through an online support group called the NF2 Crew,” Sarah explains. “It was through this group that I learned of the House Research Institute (HRI) in Los Angeles, California.” The House Research Institute specializes in disorders affecting the ears and hearing. They are one of very few centers in the world that specialize in NF2. At HRI, they have developed a specialized hearing implant called an Auditory Brainstem Implant (ABI). The implant is specifically for people with damaged auditory nerves. When the NF2 tumours are removed, the auditory nerve is destroyed. Devices like hearing aids or cochlear implants are no longer an option. The ABI bypasses the auditory nerve and stimulates the brainstem to restore some sense of sound.

The ABI was placed at the same time as the tumour was removed. Two months after her surgery, Sarah returned to Los Angeles to have the device activated. “When the audiologist flipped my ABI on and began talking… ‘Testing one, two, three, popcorn, baseball, hot dog’ I was amazed that I COULD HEAR HIM!” Sarah recalls. “At first, the sounds were artificial sounding and peoples’ voices sounded like they had been inhaling helium. With time, this got better and everything started to sound more natural.” With a lot of practice, Sarah now does very well with her ABI. “Although it did not restore my hearing, I am able to hear things that I never thought I would get back. I am especially grateful to be able to hear my husband’s voice and am relearning how to hear some music.”

Unfortunately, during the surgery, Sarah’s right facial nerve was traumatized, leaving her unable to move half of her face and to smile. Having her ability to smile and show emotion taken away has been very difficult for her to cope with. “Despite it all, I try my best to face each day thankful for what I still have.” Since 2008, Sarah has been participating in an NF2 natural history study at the National Institutes of Health (NIH) in Bethesda, Maryland, USA. The purpose of this study is for the researchers to learn more about NF2 in hopes of finding better treatment options.

Sarah has many other tumours throughout her brain, spine, and peripheral nerves and has undergone numerous surgeries. Sarah has a love for animals, especially her beloved dog, Bailey and her two cats, Oliver and Maddie. “They bring me a lot of joy and help me cope on the rough days.” She enjoys graphic design, photography, the outdoors, exercising and spending time with her husband, Hans, family and friends. She volunteers her time as the graphic designer for AdvocureNF2, a non-profit organization advocating for the NF2 community. Sarah tries to live life to the fullest, one day at a time and her motto is “Never give up hope!”