Story of SuperBouli

By BOULI, Sandhoff disease, infantile form, Lebanon, February 27, 2021

SuperBouli

SuperBouli for rare disease day 2021

Read my story or watch the video to know why I am superRare

https://youtu.be/Rw4hV_sk6VQ

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!

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SuperBouli for rare disease day 2021Read my story or watch the video to know why I am superRarehttps://youtu.be/Rw4hV_sk6VQHello!!! I am Bouli, and this year, on the 28th of February, the rare disease...

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