Lylou is the first child affected by this genetic disease in France

See my news
Follow Le Courrier de l’Eure

At the Vaillant home, in Amfreville-Saint-Amand (Eure), the living room shines brightly this holiday season. It's time to eat Lylou, 4 years oldthe second daughter of Laura and Alexandre.

To feed her, no plate or spoon, but a very specific milk, which Alexandre connects directly to the child's navel via a probe, by opening the “MIC-KEY” button: a direct opening on her stomach. “It doesn’t hurt him”reassures the dad.

Recurrent epileptic seizures

It all started shortly after Lylou's birth, in 2020. Born a month and a half premature, Lylou was a little baby who quickly stopped eating. Hospitalized for 15 days when she was less than two months old, the doctors quickly noticed that the blood tests were not good, the child underwent a battery of examinations. “Nothing came of it.

Apart from the food, he was a baby like any other,” Laura remembers. The medical profession is focusing its research on a genetic test, and it will take more than a year to obtain the results.

In the meantime, Lylou's condition worsens. At six months old, she has her first epileptic seizure. A traumatic event for the parents. “She was on top of me, she became stiff, her eyes rolled back. It lasts several seconds, it’s very impressive,” explains the father.

There are only two cases in France, and Lylou was the first to be diagnosed.

Lylou still has great difficulty eating, “it took more than an hour to give her a bottle which she never finished”, she is visibly losing weight. At 10 months, she weighed barely 4 kgwhen the average is 11.5 kg. The parents decide to have their daughter operated on so they can feed her directly in the stomach.

Just after this operation, the test result comes out: Lylou carries the SZT2 gene. “ There are only two cases in France, and Lylou was the first to be diagnosed. It’s very rare, there are around twenty known cases in the world,” explains Laura.

Delayed growth and development

This gene, which is transmitted by one of the two parents -Laura and Alexandre did not want to know who was a carrier- implies a rare epileptic syndrome of the newborn, characterized by the early onset of seizures, potentially associated with a delay or arrest of psychomotor development, intellectual disability, poverty, or even a total absence of language, behavioral abnormalities, etc.

“When we learn that she has such a little-known disease, that no research is done on it, the sky is falling,” confides Alexandre.

In Lylou's case, the epileptic seizures accumulate, sometimes to the point of having several per day. But she also undergoes delayed growth and development. Now aged 4, the little girl neither walks nor speaks. “She still wears 18 month old,” adds her mother.

His disease being extremely rare and poorly known, there is no treatment. Doctors only treat symptoms as they appear.

An association to help them

Since the announcement of his daughter's illness, Laura no longer works and takes care of it all day. The couple remains strong, especially for their first daughter Maïlane, aged 10. “We want to make our daughters happy. » Every week, Lylou sees a physiotherapist and a psychomotor therapist. You have to live between medical appointments and crises. “We have to move forward. The first year, we didn't dare go out. Now, we are no longer stuck,” confide the parents.

Despite the allowance for their daughter's disability, the parents know that the expenses will accumulate over the years. For the moment, Lylou still uses an ordinary stroller, but will, over time, have to have a suitable stroller, which supports your spine well. “When she is in a wheelchair, we will have to buy a suitable vehicle,” anticipates her father. Same pattern in their house, where the bedrooms are upstairs. “For the moment, it weighs 11 kg, but when it is more, you will have to invest in a stair lift. » In the future, there will be a lot of work to be done in the house to adapt it to Lylou's disability.

This is why the Vaillant couple created an association: Hand in hand for Lylou’s happinessin order to help them financially. They plan to organize the first events in 2025.

To help Lylou and her family, you can follow them on Facebook: Hand in hand for Lylou's happiness or participate in the prize pool at https://www.helloasso.com/associations/main-dans-la-main-pour -the-happiness-of-lylou/

Follow all the news from your favorite cities and media by subscribing to Mon Actu.