Fin 2022, Mégane Grimard and Théo Roullin plan to have a child together for the first time. They then lived in Nantes and Mégane still continued her contraception, nothing was really decided. But on February 14, 2023, a surprise burst into the lives of the young couple for Valentine's Day: they discovered that Mégane was pregnant. “A surprise, but a happy surprise,” comments the young woman, then school principal.
The first ultrasound after three months, “to check that everything is going well after an ideal start to the pregnancy”, reveals the presence of two babies, twins. “There, that was still a lot of surprises…” concedes Mégane. Although a little scared, the future parents remain positive. They still decided to return to live in their region of origin and settled near Rochefort, in Charente-Maritime. “We said to ourselves that it would be better to be close to our parents,” she explains. To be able to be helped as young parents, especially with twin girls. »
Mégane and Théo don't know it, but this decision will prove crucial a few months later. On October 2, 2023, she gave birth in Rochefort. “Everything is going very well,” recalls Théo. The first days in the maternity ward went smoothly. Both parents are making their mark with Marley and Mylane.
Neonatal screening
At the maternity ward, routine examinations are carried out on the twins, as with all other babies. Nothing alarming is detected, they seem to be in good health. A midwife gives them a leaflet concerning screening for a rare disease, which they can request. Co-organized by the AFM-Téléthon (the French Association against Myopathies), this is a pilot campaign tested in New Aquitaine and the Grand-Est region. “We don’t even pay attention to it, we are focused on the twins,” admits the mother in hindsight.
“We are told that the condition of the twins can quickly deteriorate and that any lost mobility cannot be recovered”
A few hours later, the parents agree to perform the Guthrie test on their babies, a routine examination. A few drops of blood must be taken from the twins, this could help detect several genetic diseases. One of the doctors then reminds them that by taking just two additional drops of blood, they could participate in an additional neonatal screening set up in the region, Dépisma. “We tell ourselves that it costs nothing, that we can help advance science…” says Mégane. The young parents and twins are allowed to leave the hospital, which will call them back if there is any problem with the results of the latest tests carried out.
A single injection
Three days later, Mégane and Théo receive a call from Caroline Espil-Taris, a pediatric neurologist in Bordeaux. She is in charge of the Dépisma study, co-financed with the AFM-Téléthon. “She wants to see us the next day, but she doesn’t tell us why,” Théo remembers with emotion. The verdict comes, a surprise, this time a bad one: the two twins suffer from an anomaly in one of their genes, it is spinal muscular atrophy. “Identical twins, the same anomaly,” adds the overwhelmed mother.
This mutation in the SNM1 gene affects the nerve cells that control muscles. They quickly lose their strength. Depending on the type of spinal muscular atrophy, the disease can lead to paralysis, and even the death of children in the most severe cases. After additional tests, we discovered that Marley and Mylane were suffering from one of the most serious forms, we must act quickly. “We are told that the condition of the twins can quickly deteriorate and that any lost mobility cannot be recovered,” explains the young woman.
“There is a chance that they will have a completely normal life, it’s hard to believe”
Fortunately, a treatment can be considered for the twins, in particular gene therapy, also developed with the support of the AFM-Téléthon. The girls are hospitalized for three weeks and receive one injection each, just one. Thanks to this treatment, Marley and Mylane will do well for at least eight years, which corresponds to the hindsight that researchers have on this treatment. “There's a chance they'll have a completely normal life, it's hard to believe. All this was possible thanks to Telethon donations, that’s what they are actually used for,” underlines Mégane.
Immediate treatment
If they had not been detected so early, the girls would surely have developed a serious form of this disease: “They would not have been able to hold their heads up on their own, nor sit up, nor walk…” The parents believe very lucky.
“If we had stayed in Nantes, in the Pays de la Loire, we would not have been able to benefit from this testing campaign carried out by Dépisma… And we would certainly have missed the first signs of the disease,” says Mégane. As young parents, we would have noticed the first cognitive symptoms too late, the disease would have been detected too late and it would have already progressed significantly. »
“It’s important to show people what the Telethon is for. These screenings and treatments are expensive, but they are so necessary”
This pilot project in New Aquitaine and the Grand-Est was financed to the tune of 800,000 euros by the AFM-Téléthon and defended by the AFM to the supervisory bodies. Thanks to the screenings carried out, eight babies were able to be treated with gene therapy against spinal muscular atrophy. Since then, the High Authority for Health (HAS) has given a positive opinion so that neonatal screening for this disease will be offered in all regions from 2025. The Généthon, laboratory dedicated to research on genes and financed by the AFM-Téléthon , estimates that 80 to 100 children are born each year with this disease in France, and the challenge is therefore to diagnose them as quickly as possible.
Today, at 1 year old, the twins are doing wonderfully. Full of life, moving on all fours in every corner of their house and sometimes mischievous, they leave their parents little rest. They agreed that Marley and Mylane would be ambassadors for the 2024 Telethon. “It’s important to show people what the Telethon is for,” insists the young mother. These screenings and treatments are expensive, but they are so necessary…”
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