Bringing awareness to #rarediseaseday, here is my son’s storytelling…

The story of Maud

My name is Baptiste; I am 2 years old.

I can already speak very well for my age, I am interested in many things including my little cars which I love to play with, animals, my books and music. I draw and hold my pencil very well. I can name colors and I am a big fan of Paw Patrol. And you know what? I can recognize, since I was very little, the car rides to visit my family members. People say that I am very smart.

Oh yes, I took my first steps at 18 months and now I’m walking! Normal for a 2 year old you may say! Well no… not for me. When I was 14 months old, the verdict fell like a sledgehammer for my parents: ‘bad luck’ explained the geneticist. We call that a ‘genetic typo’. It happens all the time and it is, most of the time, without consequences. But in my case, it is unfortunately quite serious.

When I’m lying in my bed, I can’t get up by myself. When I’m sitting on the floor, I can’t stand up on my own. When I fall while walking, I can’t get up by myself. I can’t climb on the couch (or on anything else), I can’t go up or down the stairs. In short, as you may guess, my muscle strength is limited.

Do you know what a rare disease is? It is a pathology that is, most of the time, of genetic origin (parents may or may not be carriers) and that affects less than 1 person in 2000. More than 6,000 different rare diseases have been identified to date and they affect, all together, 300 million human beings throughout the world. It is important to note that, in the majority of cases, there is no effective treatment for a rare disease and not all patients worldwide have equal access to diagnosis and health care.

Today is International Rare Disease Day and my parents, Maud and Sandro, have decided to raise the veil in order to advocate for rare diseases and contribute to a more open and inclusive society.

My story is the story of thousands of people around the world. What if it happened to you too…?