“We want to support her”: A village in Tarn-et-Garonne unites for little Elsa, who suffers from a rare genetic disease

Sunday, March 24, the singer Les Couleurs de la Voix gives a concert in the village hall of Castelferras (Tarn-et-Garonne) whose profits will go to the association Awake Alisa, which aims to support families whose children suffer from spinal muscular atrophy. .

Alyssa is one of the Miracles of Telethon. Suffering from spinal muscular atrophy, her life was due to end at the age of two, but in 2019, the little girl from Castelferras benefited from gene therapy and today the little girl is five and a half years old. Alyssa attends nursery school and will enter CP next school year. However, the fight is not over for her parents, Ophelie and Julian, because her late diagnosis (at the age of 9 months) did not allow Elisa to avoid losing a certain number of motor functions.

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Indeed, spinal muscular atrophy is characterized by the degeneration of neurons, which control muscle contraction, including those that activate respiration, and, consequently, by muscular atrophy. However, lost neurons are lost forever.

“It is essential that the diagnosis of the disease is established as early as possible, it is currently one of our battles”, underlines Offaly who adds that “we must also help the families, because the support of the sick (care, equipment, adaptation) , humanitarian aid) are still very expensive. »

Continued progress of ELISA treated by gene therapy

In 2019, the little girl was nine months old when Alyssa was diagnosed with type 1 spinal muscular atrophy, the most severe form of this genetic disease. She can no longer hold her head up, sit or hold things. But first: benefit from gene therapy. After gene injection, disease progression is halted. The little girl can hold her head again and the progress since then has been admirable.

Currently, Alyssa uses a wheelchair that she can push forward. “At five-and-a-half, Alyssa is doing well. She loves the pool and is developing, even getting down on all fours,” says her smiling and confident mother, “We don’t know if she’s still How much progress can be made, but we are surprised by every improvement” .

A helping hand in song

Raising awareness about the disease, being able to diagnose it as quickly as possible and supporting families are the aims of the Avec Elisa Association, known in Castelferrac. “Our village is very committed to Alyssa’s family and we want to support them. This concert is a great way to support them in their daily struggle,” declares Marilain Dupuis, President of Les Couleurs de la Voix Choir.

“We have also obtained the participation of the Leclerc store in Castelsarrasin for this event,” underlines the singer who is waiting for the concert: “I have no doubt that people will be there (1), because our conductor singer, Catherine Maioli , with some pleasant surprises A beautiful program has been prepared. »