A Single Injection to Rewrite Their Daughters’ Future
Mégane and Théo’s world tilted on its axis the day they learned their twin daughters had spinal muscular atrophy (SMA). This genetic disease, one of the most common neuromuscular disorders affecting children, causes progressive muscle atrophy, impacting breathing and even the ability to eat.
But that wasn’t the end of the story. Thanks to their foresight and the promise of gene therapy, Marley and Milane are thriving, living normal, healthy lives.
It all started with a simple, seemingly insignificant drop of blood. When Mégane gave birth to Marley and Milane, the maternity hospital in Rochefort, where they had moved to be closer to family after learning they were expecting, participated in a pilot screening program for SMA. This early detection proved crucial.
“It’s crazy that there is such a difference in access to care and medicine depending on the region,” reflects Théo. “On such serious subjects, this is not normal.” He can’t help but express his frustration with the inequities in healthcare, especially for a disease that affects so many families and can be potentially life-changing if diagnosed early.
Days after their daughters’ birth, their world turned upside down. The diagnosis of SMA was heavy, but it also presented a lifeline: gene therapy.
This innovative treatment involves a single injection, administered on the 17th day after birth, that corrects the genetic defect responsible for SMA. For Marley and Milane, it was a turning point.
“They are in great shape, there is all that behind it, but we don’t consider them sick,” Mégane states with confidence.
The family credits the “big family” of the Telethon, an annual event dedicated to raising awareness and funds for research into rare diseases like SMA.
“We say thank you to them, even if the word is weak,” confesses Théo, expressing the profound gratitude they feel for the research and the tireless efforts of the Telethon community.
Each year in France, 60 to 100 babies are born with SMA.
For families like Mégane and Théo’s, access to early screening and innovative treatments like gene therapy is essential. It’s a testament to the dedication of researchers, doctors, and organizations like the AFM Téléthon.
The fight continues, however. The AFM Téléthon actively advocates for SMA to be included in routine newborn screening nationwide, ensuring all babies have access to these potentially life-changing treatments.
The future for Marley and Milane is bright. Their story is a powerful reminder of the continuous advancements in medical technology and the impact it can have on families facing incredibly challenging diagnoses.
What are the benefits of early detection and intervention for SMA?
## A Single Injection to Rewrite Their Daughters’ Future: An Interview with Mégane and Théo
**Host:** Mégane and Théo, thank you for joining us today to discuss your incredible journey with your daughters, Marley and Milane.
**Mégane:** It’s our pleasure.
**Host:** As many viewers know, you faced a difficult initial diagnosis when your twin girls were born – spinal muscular atrophy, or SMA. Could you tell us a bit about what that meant for you and your family?
**Théo:** Learning Marley and Milane had SMA felt like the world came crashing down. It’s a devastating disease that can rob children of their ability to walk, eat, even breathe. We were terrified for our daughters’ future. [[1]]
**Host:** But early detection through a pilot screening programme in your maternity hospital played a crucial role, didn’t it?
**Mégane:** Absolutely. We were fortunate that the hospital in Rochefort participated in the programme. They took a simple blood sample from Marley and Milane, and that’s how we learned about their SMA diagnosis so early on. Early detection is key with this condition. [[1]]
**Host:** And this early intervention opened the door to a groundbreaking treatment – Zolgensma, a gene therapy.
**Théo:** Yes, Zolgensma is truly a revolutionary treatment. It’s the only gene therapy approved for SMA, and it works by replacing the faulty gene that causes the disease. It’s a single injection, and its effects are meant to be long-lasting. [[1]]
**Host:** Can you describe what a difference Zolgensma has made in your daughters’ lives?
**Mégane:** It’s been incredible. Marley and Milane are thriving thanks to this treatment. They are hitting all their milestones, playing, laughing, and living normal, healthy lives. Seeing them grow and develop like any other child is the greatest gift.
**Host:** Mégane and Théo, you’ve bravely shared your story to raise awareness about SMA and the importance of early screening. What message do you have for other families facing similar challenges?
**Théo:** Never give up hope. Diagnosis can be incredibly scary, but with early detection and access to innovative treatments like Zolgensma, there is hope for a brighter future for children with SMA.
**Host:** Thank you both so much for sharing your inspiring story. We wish you all the best for the future.
