“We have been living a nightmare since the announcement. We have a countdown above our heads, ”says Farha, annoyed, from the chair in her living room, at Coteau, near Roanne (Loire). This 27-year-old mother has just learned that her two children, Eden and Abel, aged 5 and 1, have Sanfilippo syndrome type C, a rare and incurable disease. “It started with stomach pains, regular constipation. We saw several doctors but we were told it was nothing. I saw several different doctors and insisted. But I was far from imagining such an illness. “In March 2021, Eden was hospitalized in Lyon and, after a battery of examinations, returned home. A week later, the verdict falls: the little boy still in kindergarten has a genetic disease,which affects less than one birth in 100,000.
“We immediately felt a terrible climate of announcement when we arrived at the hospital.
The doctors took us between four eyes to explain to us the dramatic consequences in the future” remembers Tomy, the father, who suffered a cardiovascular arrest (CVA) after the announcement of the news.
And for good reason, the "nightmare" continued.
Sanfilippo being a genetic disease, the doctors quickly took charge of Abel, who was only 5 months old at the time, to carry out the same tests.
“It was double jeopardy.
We were told that Abel was also sick.
There was a one in four chance of it being hit.
In fact, we had just been told that our only two children were doomed to a very difficult and short life.
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“They will forget us.
And it's hard to accept that such a serious disease is ignored.
It's important for people to know,” underlines the mother of the family.
A clinical trial in the United States
Currently, no treatment exists in France to fight against the disease.
But there is no question for Tomy and Farha to sit idly by.
By dint of research, the couple makes contact with other families, in the same situation, in France and abroad.
And find a glimmer of hope in a clinical trial in preparation, in the United States.
But before the first tests on humans, other scientific steps are necessary.
As well as funds.
“It takes 1.5 million euros to fund research and gene therapy that will be done over several years.
We know it's a huge sum, but if everyone can give what they can… We are around 67 million people in France, we don't need that much.
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An online kitty – which is close to 100,000 euros – has been set up by the couple and the VML association, which has a scientific committee.
“We believe in it, says Farha, who multiplies the appointments with her spouse to make their fight known.
We refuse to watch our children die and do nothing.
The goal is to help Eden and Abel but also other children in the world who suffer from it.
And time is running out.
The more the months pass, the more the disease takes place and reduces the chances of the two brothers to be able to take part in the clinical trial in sight.
While waiting for the fundraiser, the couple fights and the children are unaware of their illness.
A choice that Farha and Tomy want the interview to take place during nap time: “Abel is still very young.
And Eden is in the big kindergarten section, he lives his life as a child, he has his activities, he plays sports, he likes to see matches… He doesn't need his dreams to be shattered.
Perhaps even with the evolution of the disease, he will not realize it.
“Eden has only one dream to date: to meet Kylian Mbappé, whose goal celebrations he imitates with his arms crossed, throwing himself on the ground, knees forward.
