TESTIMONY
Less than 1 in 2,000 people. It is the threshold below which a disease is considered to be rare. Between 7,000 and 8,000 pathologies have already been identified. While some are well known to the general public, such as albinism, sickle cell anemia or cystic fibrosis, others, on the other hand, are much more discreet.
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>> Calixte, 11 and a half years old, suffers from one of these diseases, a spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME). A pathology which currently affects 13 people worldwide, and which causes premature death, most often before the patient's 16 years. The little girl was diagnosed only a year ago. On the occasion of the 13th edition of the international day of rare diseases, her mother, Armelle Gérard, testified at the microphone of Europe 1.
"Power cuts in his brain"
"It is a disease that is expressed through microconvulsions in the eyes, and sometimes sudden falls. As if there were power cuts in his brain, and 'paf', it falls. Today Calixte leads a relatively normal life, but we know very well that in adolescence the situation is likely to deteriorate. It is true that when we learned this diagnosis, inevitably, as parents we were completely upset, wiped out.
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But in our misfortune, we are very fortunate to know the gene which is at the origin of this disease, and we will use it as a medicine. We are going to inject, in a single bite, millions of billions of this 'drug gene'. And this 'healthy gene' will do the job of the defective. We are really racing against the clock so that it can be done as quickly as possible. "
Donations to finance treatment
To implement the treatment that will save the lives of Calixte and the other victims of SMA-PME, the family of the little girl founded Asap for Children, an association which collects funds to develop a treatment. The latter estimates that he needs 1.5 million euros per child to achieve his goals. Individuals and companies can make donations on the site asapforchildren.org