“My children suffer from childhood Alzheimer’s”

“My maternal instinct always made me feel like there was something wrong with Eden. He was suffering from severe constipation and the doctors told me this problem would go away. He underwent many doctor interviews for three and a half years because the answers were not right for me. Meanwhile, my husband and I welcomed another baby, Abel, in October 2020. Eden was finally admitted in March 2021. The medical team started from scratch and performed several examinations and analyzes.

Two weeks later we received a letter with a short note explaining it the heparan sulphate dosage in the urine of Eden was not normal and that it was a symptom of Sanfilippo’s disease. “

Diagnosis of Sanfilippo disease: relief and then shock

“After receiving the results from Eden this weekend, I did some research on the internet … So we learned about the gloomy life prognosis involved in this rare and incurable neurodegenerative disease.. With my husband, we understand that there is no treatment and that our son will die before he reaches adulthood. I broke down and cried for hours. Tomy, my husband, just did not believe it. He told himself that it was just a part of orienting the diagnosis.

A few days later we had an appointment with a doctor specializing in Sanfilippo disease, we immediately understood the seriousness of the situation, but we felt in the right place and well accompanied. She asked us if Eden had any brothers and sisters because there was a chance he / she was sick with four. Abel was only 4 months old and we had to take him to the hospital. In shock, my husband had a stroke and he was hospitalized for 7 days … “

Childhood Alzheimer’s: his two children suffer from Sanfilippo syndrome

“After Tomy was hospitalized, we got Abel to perform the test. The results were final, he too was affected by Sanfilippo disease. We came home with our two children without knowing how to tell our loved ones this terrible news.. I felt helpless and told myself that it was not possible not to be able to do anything. I then started several internet searches and I found the number of a father who had the same story as us.

It was he who told us about the treatment in the experimental phase on mice. We quickly realized that with a rare disease, we had no help and that it was up to us, the parents, to fight for our children. It became the engine of my life. ”

Sanfilippo syndrome: a treatment for 1.5 million euros

“When we found out that access to treatment would cost 1.5 million euros, I imagined selling everything, our furniture, our apartment, etc. But I realized that we would not manage it … We were to talk about our history, pass the message on to all the French. We are around 67 million, if everyone gives 1 euro, we can easily reach it!

This match started in December 2021, we created a Facebook page and that’s us assisted by the association Vaincre les Maladies Lysosomales (VML). After 6 months we have raised 620,000 euros, it is a true breath of hope. More than ever, we believe in it!

Rare disease: inform the public

Sanfilippo’s disease is called childhood Alzheimer’s in the United States.. It is a neurodegenerative disease. Gradually, my children will lose everything they have learned, lose speech, have dementia attacks, epileptic seizures. The disease is responsible for premature death before adulthood … I wonder how we can let children suffer like that? It is therefore up to us, parents and patients to talk about it, even though I am aware that it can be complicated. Fortunately, we are well accompanied by our relatives.

We were offered a psychological follow-up, but unfortunately we are running out of time, our fight to save Eden and Abel is a priority. Just knowing that there is a treatment in the trial phase that could save them gives us hope, due to no words can relieve our pain. “

To find out more, go to Tomy and Farha’s page https: //www.facebook.com/Pour-quEden -…

And to make a donation, link to the kitten: https://www.helloasso.com/associations/vaincre-les-pathies-lysosomales/collectes/pour-qu-eden-et-abel-vivent-la-collecte- officiel

Leave a Comment