My name is Mathéo, I am born on the 12 January 2019 to the delight of my parents and my family.
As of February 2019, respiratory symptoms and muscular weakness led me to my first hospitalization, in Strasbourg, France
The name of a disease quickly appeared in my life: Infantile spinal muscular atrophy (SMA type I).
It is a rare genetic disorder that attacks the motor neurons and atrophies the muscles. It progressively restrains the ability to move (entirely, from tip to toe), to eat and to breathe (attacking respiratory muscles)…
The SMN1 gene is absent in my body: this gene allows the production of SMN, a protein necessary for the survival of “motor neurons” that are in charge of making the muscles move.
With a bit of luck, one or more SMN2 genes can be present. The SMN2 also allow to create the SMN protein but in an unstable way and not in sufficient quantity.
The announcement was violent: I was given between 7 months to 2 years of life expectancy…
The medical profession presented its options:
- 1st option: Leave it to God…
- 2nd option: Follow the SPINRAZA treatment.
This treatment, without any guarantee of results, may not have any effect on the disease, but also could stabilize or improve the patient’s condition.
The SPINRAZA itself does not cure, but increases the production of SMN from the SMN2 genes. SPINRAZA is given in several doses intrathecally at the beginning, and then every 4 months. SPINRAZA in fact stabilizes the disease while waiting for researchers to create a cure.
- 3rd option: follow-up with ongoing clinical trials…
The SPINRAZA solution, highly recommended, was the one we chose.
In the beginning of March, I got my first injection of SPINRAZA.
I react positively to the treatment and my motor skills are improving day-by- day…
At the end of March, I contracted a bronchiolitis and I experienced my first day in the pediatric intensive care unit. Doctors warned my family that I had a few hours or a few days left to live…
But my parents, family and friends all fought with me! And I overcame this ordeal!
While the doctors, pessimistic to announce the worse, had their glasses half empty, my family had their glasses half full, always with hope for me. Whereas I drunk my glass and fought!
Since then I have regained strength...Follow-up my treatment with SPINRAZA.
I have respiratory and muscle physiotherapy on a daily basis: I am a like a little athlete with my dedicated team. I could even start to taste my first homemade puree, made with the greatest of love, the love of my Mom.
Last summer we wrote to the highest authority in France, the French President. As we tried to obtain assistance to get the new treatment: gene therapy, ZOLGENSMA.
Given through a single intravenous dose, this treatment can replace the missing SMN1 protein by adding a therapeutic SMN1.
But, the Secretary of State for Health said that she had given provisional indications of administration. What she did not understand is that I could not apply for ZOLGENSMA as I already got the SPINRAZA treatment beforehand.
At the beginning of November, following a cold, my health deteriorated. I returned for the second time to the pediatric intensive care unit, in a critical condition.
This stay was a little harder for me this time as I did a hypoxia.
The doctors announced again that I was going the die, die and die again…
Against all expectations from their side, I emerged victorious again from this episode.
I continued to fight, so my family and friends kept supporting me with their love.
At the beginning of December, I came back home...and once again I kept improving every day…
My treatment SPINRAZA helps me a little bit, but does not seem to act efficiently to improve my breathing and swallowing…
My parents explained to me that the drug ZOLGENSMA, which may help me, will not be given to me by the doctor. Because of its expensive price (2 million dollars), it is reserved for babies with better chances of benefits…
Me, I don’t really understand, I might have a few pennies in my piggy bank, but clearly not enough.
So, in mid-December, I wrote to the NOVARTIS laboratory and appeal to their generosity, asking if it was possible for me to benefit from the ZOLGENSMA treatment. I want to prove that with this drug, I am stronger than the disease! I was told that in France this drug is available under TUA (Temporary Use Authorisation) prescribed only by the doctor provided that I fit all medical criteria.
Two days later, I got to know that the laboratory was offering 100 doses of the drug ZOLGENSMA! But being French, this list was not accessible to me!
At the beginning of January, the Secretary of State for Health reacted to the controversy of distribution of 100 doses of ZOLGENSMA by draw and said: “France has nothing do to with it: everyone who needs this treatment has access to it.”
So, we asked my pediatric neurologist to give me the ZOLGENSMA. He explained to us that the allocation always come from a collegial decision from referring physicians, with stronger criteria in France than abroad.
The decision is made: I will not be able to get a dose of ZOLGENSMA because I am in a “post symptomatic” state. Therefore, they consider that this treatment will have no effect on me. But other patients in a “post symptomatic” state got the ZOLGENSMA treatment with positive effects, in other countries.
So why not me?
“I can't be a pessimist because I'm alive. To be a pessimist means that you have agreed that human life is an academic matter. So I’m forced to be an optimist.” (James Baldwin)
My last chance now is to appeal to the world’s generosity, to access the most expensive drug in the world.