2023-09-21 18:35:00
Rett syndrome is a rare genetic disease that affects 40 to 50 new births per year. Mainly girls. And which is characterized by developmental disorders, more or less significant stereotypies (1), loss of speech, etc. “It is not a degenerative disease, so children can progress motorically…”, explains Alexandra, mother of little Mila, who suffers from this syndrome.
And the support is multiple. Heavy. Often at the expense of the family. Daily, Mila sees a psychomotor therapist, a physiotherapist, an occupational therapist, an orthoptist, a speech therapist… “I had to stop working. Given the number of appointments she has per week, it’s very difficult to combine work, home and my mental health, smiled Alexandra. It’s a very big psychological burden, it’s administrative, making appointments… It takes a lot of time.”
To help the little girl live well on a daily basis, a certain number of tools surround her: a tailor-made seat, a stroller, a wheelchair, a corset-seat, a standing aid, etc. “She can’t stand upright, so to avoid bone deformities, you need a lot of equipment. And a lot of space! Not to mention the elbow, walking, and posture splints…”
Equipment that is often overpriced because it is tailor-made. For example, the family wants to buy a walker: “For the one we are going to need, we need to count on 3,000 or 4,000 euros, for social security support of 300 euros… There is a large remainder to be paid.”
Soon the association “A voice for Mila”
Legend. (Photo ).
Rett syndrome is a disease that occurs following a child is eighteen months old. “The announcement is always complicated because no one expects to have a disabled child. In our case, in addition, Mila had a rather normal development at the beginning. We had a little girl who stood up, who said a few words and then there was this phase of regression.”
After speaking with a family from Mouans-Sartoux whose daughter also suffers from Rett syndrome, the parents, Alexandra and Vincent, launched their Instagram, A voice for Miladedicated to raising awareness of this disease.
“Social networks are a source of wealth. We find people to talk to, we discuss the therapies that exist, the daily symptoms, if there are any tips… We help each other a lot, it “It’s like a second family. I think it’s liberating to be able to talk regarding it.”
And, in order to raise even more awareness of Rett syndrome and to raise funds for research and the purchase of future equipment, the family is seriously considering creating their own association, A voice for Mila. And, although children with this syndrome may experience frustration at having difficulty making themselves understood, “They are ultra-smiling little girls. Who love music…”
1. Set of attitudes, gestures, acts or words without apparent meaning reproduced tirelessly, sometimes to the point of causing injury. n Instagram: unevoixpourmila
Participate in October Rett
October Rett. You know ? It’s Rett syndrome awareness month, less known than Pink October (breast cancer awareness month).
Throughout the month of October, it is possible to help fund research into Rett syndrome. Simply register online and run or walk. There are several distances to choose from: 2, 6 or 10 km. Alone, with family, with friends… Then, simply perform the feat wherever you want, and whenever you want during the month of October.
And even though it is a rare disease, it is a fairly well-known disease. Indeed, a clinical trial of a targeted gene therapy which would make it possible to reexpress in neurons the gene whose loss is responsible for Rett syndrome is underway. And therefore to heal those affected. “And a drug that alleviates the symptoms has been on the market in the USA since April. But it is, for the moment, not yet planned in Europe,” announces Alexandra.
Registration: 10 euros per person regardless of the route. You can also add a donation or buy a running t-shirt in AFSR colors from the registration form.
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