Myriam Beghour has decided to do everything to save her son. Ishac, who will be six months old on August 16, suffers from type 1 spinal atrophy, a rare genetic disease (less than 100 children are born each year with this anomaly) which causes muscle weakness and affects motor skills. and respiratory function. “It was during the visit for the 4 months that the doctor found that Ishac was hypotonic, he moved his limbs little. We consulted a pediatrician specializing in neurology, then a genetic test, carried out at the Purpan Children’s Hospital (Toulouse University Hospital), put a name on the disease: spinal amyotrophy. And there, we were told that the children concerned did not live more than two years, that there was a treatment but that it did not work on all patients… I received so much terrible information in a short time, ”says the mother, who lives in Tournefeuille. “I was told that there were two treatments, Spinraza and a promising gene therapy. Ishac did not meet the criteria adopted in France to have access to gene therapy, he is on Spinraza but this drug does not that slow down the disease. Families are going to the United States to inject gene therapy. It costs 2 million euros so I try, I throw a jackpot. It’s the last thing I can do, “adds Myriam. Its pot is available on the site www.cotizup.com/pour-ishac.
Two months ago, Jelena, a Toulousian, launched an appeal for donations for her cousin Lana, a 9 month old girl living in Serbia, also suffering from spinal muscular atrophy (our Saturday edition). Meeting on gf.me/v/c/gfm/Urgent-Aidons-Lana-avant-que-a-soit-trop-tard .
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