The story of: Raphaële

Hello everyone,

My name is Raphaële, and I am 30 years old.

Today, I would like to share my experience of living with Neurofibromatosis Type 1 (NF1), a term that, for many years, I struggled to accept. It was a word I found difficult even to say out loud because I feared being judged, looked at differently, or defined by a label. For a long time, even throughout my twenties, I couldn’t talk about it. I was afraid of the questions and the way people might look at me. Today, I am finally able to speak about it, and for me, that is an important step forward.

I have always been aware of my NF1 because I was diagnosed shortly after I was born. From an early age, it brought its share of challenges.

Because one of my tibias was more curved and fragile than the other, I wore a brace and had to be careful about the sports I participated in. It wasn’t always easy to answer the many questions from other children who wondered what was wrong with my leg, or to ignore the teasing that sometimes came with it.

Then, in first grade, my doctors decided that I no longer needed the brace. From that moment on, I became determined to focus on activities I could do, especially swimming, to strengthen my muscles. I trained several times a week, competed in swim meets, and over time my tibia became strong enough that I never needed surgery.

My tibia is still curved. It is part of who I am. People still ask me questions about it, but today it is stronger than ever.

Looking back, I realize that my tibia taught me something very important: I cannot control my disease, but I can control how I respond to it.

Today, I do everything I can to stay active and keep my muscles strong. I enjoy cycling, Pilates, swimming, and walking. There are still certain sports I cannot do, such as soccer or downhill skiing, but I have learned to find alternatives that allow me to stay active. I try not to let the disease prevent me from doing the things I love, even if sometimes I need to adapt the way I do them.

Living with NF1 also comes with many everyday challenges: medical appointments, MRI scans, biopsies, surgeries to remove neurofibromas… and the list goes on. Some days are easier than others, while on other days the weight of NF1 feels much heavier.

Another challenge that is part of my reality is the question of motherhood. At 30 years old, it is something that brings many questions, but also fear and uncertainty. I often wonder what impact pregnancy and motherhood could have on my body because of NF1.

Every person’s experience with NF1 is different. During my twenties, accepting this reality was particularly difficult. I realized that if I wanted to have children, my journey would likely be much more complicated than for someone without NF1. Even today, this remains a sensitive subject for me. Knowing that my experience of motherhood may not be the same as that of someone without a chronic condition is something I continue to process, one day at a time.

Looking back, school was not always easy either. I struggled academically, especially with mathematics. For years, I worked with a tutor every Saturday, trying to better understand concepts and overcome those challenges. I often felt that I had to work twice as hard as everyone else.

Despite that, I kept going. I earned both a bachelor’s degree and a master’s degree.

That experience taught me something important: NF1 does not define what we are capable of achieving. We are often capable of far more than we think, even if our journey looks different from someone else’s.

Today, I choose not to define myself by my disease.

NF1 will always be part of my life. There will always be challenges, but I choose to define myself by my dreams, my passions, my accomplishments, and by the person I have become.

— Raphaële