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.

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

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.”

Interviewed by Desirée Sher

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.

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

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.

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.

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.

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.

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

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.”

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.

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