Tim Golumbia and Gail Appelgren do not let NF define their lives. In their presentation they will share how they live a fulfilling and happy life in spite of both being affected with NF1. Tim and Gail live in Alberta with their two dogs. They both volunteer on the board of the Alberta Tumour Foundation.

Dr. Jan Friedman is a clinical geneticist and Professor of Medical Genetics at the University of British Columbia (UBC). He received his MD degree from Tulane University in New Orleans and his PhD in Genetics from the University of Washington (UW) in Seattle. He completed a pediatrics residency at the Children’s Memorial Hospital in Chicago and a clinical fellowship in medical genetics at UW.

Dr. Friedman has been involved in clinical and epidemiological research regarding neurofibromatosis for almost forty years. His research has led to seminal advances in improving the diagnosis of NF, and in formulating recommendations for genetic and clinical diagnosis that have led to enhanced standards of patient care. His key research discoveries of novel molecular and cellular hallmarks that distinguish types of NF (benign tumours that typically arise in these patients) are providing new insights into the pathogenesis and progression of NF. Dr Friedman has published more than 275 peer-reviewed papers and has written six books, and edited two others.

Frankie has many lessons to share from his journey living with NF1, being a multi million-dollar fundraiser, and having the courage to prioritize his mental health even when it could have meant risking it all. Frankie will share how he stays strong and hopeful despite new health challenges.

Neurofibromatosis type 1(NF1) the most common hereditary multi-systemic tumor predisposing syndrome. Patients with NF1 require life-long, pro-active clinical monitoring. Each child of an individual with NF1 has a 50% chance of inheriting the disease. As such, a diagnosis of NF1 has a tremendous impact on the psychosocial well-being and reproductive decisions of patients. In this presentation we’ll explore the following NF1-related aspects: fertility, indication and safety of contraception, availability, limitations and outcome of reproductive options including prenatal diagnosis and preimplantation genetic diagnosis and the implications of a diagnosis of NF1 for pregnancy management and outcome.

Dr. D’Agostino completed her Medical Genetics training at McGill University and a Neurogenetics fellowship at Université de Montréal. Since 2015 she is affiliated with the Medical Genetics Division of the McGill University Health Center (MUHC). In 2016 she established the MUHC Adult NF1 Clinic. She also contributes to the Pediatric component of the Clinic. Dr. D’Agostino has contributed to international studies to clarify the genotype/phenotype correlation in NF1. She is currently leading a collaborative study on the psychiatric manifestations of adults with NF1, which has received funding and was endorsed by the Association de la Neurofibromatose du Québec (ANFQ).

Lisa will share an overview of NF2 Biosolutions’ mission and scientific team; introduce what gene therapy is and report on their latest research strategies with three top US gene therapy labs. Lisa will also share why she chooses to volunteer as an ambassador for this organization, and why she will never give up fighting for a gene therapy cure.

Lisa is a full-time working parent of two beautiful children. Originally from the UK, Lisa and her family emigrated to Canada nine years ago to enjoy the outdoor living that BC has to offer. When she is not working or volunteering for various non-profit charities, Lisa enjoys yoga, hiking, music and spending time with her family in the North Shore mountains.

Finding and keeping employment when you’re living with a chronic disorder isn’t always easy. Annette will help us find solutions and update us on the changes to the Canada Labour Code and what this means for the NF community.

Annette Borrows has been serving people with disabilities towards employment for the past 20 years and all of her efforts are focused towards employment equity for people with disabilities. Annette is an international speaker and the President of the Canadian Association for Supported Employment. She has also written and facilitates over 250 hours of workshops and courses focused on employment equity strategies for serving people with diversities.

Muskaan is a second year medical student at University of Toronto, and is also a graduate of the BHSc program at McMaster University. She is an avid supporter of mental health initiatives and is extremely interested in the field of psychodermatology: the connection between the mind and the skin. Through initiating and leading the Neurofibromatosis project, she aspires to understand the cutaneous manifestations of the condition and their effect on the patients’ mental health. Moreover, Muskaan understands the importance of a powerful narrative and wishes to feature the untold stories of those affected by NF Type I through a book and a video. It is her vision that the information collected will improve awareness about the various challenges associated with skin symptoms of NF1 and alleviate the burden of surgery costs.

Empowered patients know that they are responsible for their own health, health decisions, and will assertively demand the health care they deserve. Connie will share steps on how we can ensure the best outcomes for our health. Connie Jorsvik is the owner and senior healthcare navigator of Patient Pathways (patientpathways.ca), who helps patients and families with serious and complex illness navigate our fragmented and siloed healthcare system.  She was for 25 years and was always an advocate for her patients.  She and her team now serve Metro Vancouver and the Okanagan. Connie speaks on Advance Care Planning and Empowered Patients, Empowered Caregivers, locally, provincially and nationally.

Sarah is a mom of three children, one of who is living with NF1. Sarah has faced many hardships and wins while learning how to work with the health and educational systems. She will share some of her experiences and what she has learned on her continuing journey with her daughter.