The story of: Gérard

I come from a family of 4 children. There are 2 of us with NF1: myself and my elder sister. My mother was also affected at the time, but we didn’t know what was wrong with her. I found out when I was about 20.

I was told: “No treatment and nothing to do.” I have café-au-lait spots and neurofibromas. What bothered me in my teens was positional vertigo. After complaining so much, my family doctor referred me to an ENT specialist. After a consultation and X-ray, I was operated on and had a mass removed from the right side of my head at the mastoid level, but it was 30 years later that I learned it was an NF1 tumour. After my surgery, I’ve had no more problems. 

Sometimes I’d see a dermatologist to have troublesome fibroids removed. At one point, I was told that this was no longer covered, as it was cosmetic. Over the years, the fibroids have grown considerably, and I’ve also noticed increased growth during periods of great stress. What I find most difficult is accepting the way I look because of the way others look at me. I’ve stopped going to the beach and public swimming pools, and now I only swim in private areas, wearing an opaque T-shirt. 

I’ve always had an active social life. I’ve even been involved in politics. I worked in representation for almost 24 years. I got married, and we had 2 daughters. It wasn’t until the 2nd pregnancy that I knew it was genetically transferable. As they say, I prayed that she wouldn’t be affected, but unfortunately, they were both diagnosed with NF1: one had an optic glioma diagnosed on her 13th birthday, but we were very lucky because she was taken care of by Dr Sylvain at the CHUL. He referred her to oncology. We got immediate treatment: 16 months of chemo practically every week, with a 1-week break every 6 weeks. She had lost 80% of the vision in her left eye and now has 95% of it back. Wonderful! There is hope. You can get through this with the right medical team. My other daughter has a plexiform neurofibroma on her wrist. It took 2 years to see a hand surgeon. She removed what she could, but it would have taken faster management. She’s still doing very well and has no after-effects. It’s still good.  

It was my sister, who is more affected, who introduced me to the Association de la neurofibromatose du Québec. I joined after some hesitation, but now that I know about the association, I should have joined before. Of course, the more you read about the disease, the more you might worry, but there’s a lot of useful information out there. Although at first I wasn’t comfortable with it, because it’s a mirror effect when we get together, some less affected, others more. We realize that there is hope for everyone. That’s why I joined the Board of Directors for the Québec City region, hoping to be a useful link in the association.

I can say that today, I’m more at ease with the disease since I’m more informed and accept myself as I am more and more. I follow up with my family doctor, neurologist, ophthalmologist and dermatologist on an annual basis to avoid possible complications that I hope will never arise. 

– Gérard