The story of BOULI
SuperBouli for rare disease day 2021
Read my story or watch the video to know why I am superRare
Hello!!! I am Bouli, and this year, on the 28th of February, the rare disease day, I want to tell you why I am SuperRare!
I was born on July 2016
I loved to laugh, laugh more, laugh loud…
I loved to play and I had friends in kindergarten
I had a normal development during approximately the first 8-9 months of my life.
But I didn’t like loud sounds or screaming!!! L
After that, I suddenly began seizures, progressive motor deterioration, blindness….
The disease appeared and evolved quickly!
I had to make so many medical exams like EEGs, blood tests, genetic tests and more… for the screening of my disease.
UNTIL!!!! I was diagnosed with the superRare genetic, neurodegenerative, incurable, life threatening disease. Called ” Sandhoff disease”.
You may not have ever heard of it before, but I will tell you a little bit about it.
It means that:
- I can’t talk
- I can’t walk, move or laugh…
- I can’t speak, but I love to listen gently to your voices
- I might do some things differently than you, like eating by a feeding tube attached to my belly instead of eating by my mouth…
- It’s a life limited disease, but it’s OK!!! I have a doll-like face, like angels.
In fact, my family says that I am an angel that shows people on earth what is Love. And also, I am a superhero.
You know why??? Because not all heroes wear capes. Not all heroes can fight the Sandhoff disease.
In this fight, I need so much Love. So much cuddles.
I need so much care, treatments, medications, therapies…
I am sure that no Hero can handle the respiratory therapy sessions that I need frequently for the prevention and the treatment of my recurring respiratory tract infections.
But Thanks God, I am in good hands. And surrounded by a wonderful family!
So, here is a brief story about myself.
Is that sufficient to prove for you why I am SuperRare? SuperHero? SuperBouli?
Thank you for listening to my story!
I can’t wait to hear from you if you have any questions!