Here is my SOS ...
My name is Mathilde and I was born on March 17, 2019 to the delight of my parents and all my family.
As of March, respiratory symptoms and muscle weakness did not lead me to my first hospitalization.
Very quickly a name of disease emerged: Infantile spinal amyotrophy type 1.
It is a rare genetic disorder that attacks motor neurons and muscle atrophy. She gradually gradually moves (entirely, from head to toe), to eat and breathe (attacking the respiratory muscle) ...
The SMN1 gene is absent: this gene allows the production of SMN, a protein necessary for the survival of motor neurons and which allows muscles to be used.
Hopefully one or more SMN2 genes are present. SMN2 also makes it possible to create the SMN protein, but in a truncated and unstable manner and above all in insufficient quantity.
The announcement was violent: I was given an estimated life expectancy of between 7 months and 2 years ...
The medical profession presented its options:
- Leave it to God ...
- Follow the Spinraza treatment. This treatment, without guarantee, may not have an effect on the disease, may help stabilize the disease or improve the patient's condition. Spinraza does not cure, but allows increased production of SMN proteins, from the SMN2 gene. It is administered intrathecally, by several initial doses, then every 4 months. Spinraza thus provides hope for stabilization of the disease while research waits for a cure.
- Follow clinical trials ...
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