Why are you supporting the 101 Genomes Marfan project?

My name is Dessie Lividikou and I’m Sam’s mom. When he was born on September 24, 2017, we learned that Sam had neonatal Marfan syndrome. Severe progressive connective tissue dysfunction. Doctors have told us that most children with neonatal Marfan syndrome do not survive beyond two years.

We started a blog on Sam(lievesam.weebly.com) and through our blog we came into contact with Romain and Ludivine and the 101 Genomes Foundation. They’re doing a fantastic job, and we fully support the 101 Marfan Genomes project. There is currently no treatment for Marfan syndrome, which is why good research is so important.

Thanks to our blog, we’ve met other parents of children with neonatal Marfan syndrome who are much older than two. We’ve also discovered that there are major differences in the way the disease manifests itself and in the symptoms children suffer.

The 101 Marfan Genomes project aims to study these differences and try to explain them. With this project, we hope to develop life-saving treatments for Sam, Aurélien and other children with Marfan syndrome..

Sam underwent his first heart surgery this summer. The future remains uncertain and exciting. We hope that medical research will continue to develop, and we believe that this project can make an important contribution.