Senna's Story

We are a Belgium-Dutch family, living in Alella (Barcelona, Spain). Senna was born on May 1, 2023, after a C-section due to a drop in his heart rate when I was having contractions. He had the umbilical cord wrapped around his neck three times including a knot, which explained his discomfort. Luckily, he was perfectly healthy, even scoring a 10/10 on the Apgar test. Our dearest dream had come true: a healthy baby boy and a little brother for our daughter Maité.

Three months later, I noticed something unusual: Senna wouldn’t look at me or smile anymore. His eyes were constantly moving back and forth (nystagmus), and he couldn’t focus on me. At that point, we were already seeing an osteopath for some seemingly minor baby issues, like feeding difficulties. She immediately advised me to go to the ER. When we arrived at the hospital, the rollercoaster began. Senna was placed on a bed and surrounded by doctors and nurses. It quickly became clear he had bilateral cataracts, which, while not critical on its own, can sometimes indicate a more severe underlying condition. We stayed in the hospital for 1.5 weeks, and the following months were filled with countless tests and investigations. About a year later, we received the diagnosis we feared: Senna had two mutations in the ATAD3A gene, known as Harel-Yoon Syndrome (HYS).

Now

At the moment, Senna is doing well, and so are we. At 4 months old, his lenses

were removed, and he has been wearing contact lenses since. After an intense first 1.5 years, things have calmed down somewhat, and we are incredibly proud of him and our family. Due to his mutations, Senna has low muscle tone, which causes motor delays. For example, it took him nearly a year to sit upright independently, and it is still sometimes difficult for him to keep his head straight continuously. Nowadays he is a champion in “army crawling” his way to everything and he zooms around the house on his special bike, getting his hand on everything he can. He can stand at a table and walk with assistance, though not yet on his own due to less strength. He isn’t speaking yet but has started babbling words like “mama” and “agua”. Cognitively, it’s hard for us to judge, but he seems to understand almost everything and is turning into a cheeky little rascal. He is happy, loves music, dancing, and playing with his older sister (who absolutely adores him!).

Thankfully, he eats well (like a construction worker some people say), but remains significantly underweight, staying far below the weight curve. Fortunately, he now receives various supplements to boost his calorie intake, and that seems to be helping.

Further awareness and research

The hardest part of Senna's condition is that it’s progressive, and nobody knows their life expectancy. The syndrome was recently discovered in 2016 and is still considered rare, but more children with HYS are being diagnosed. We hope to raise awareness and support research into mitochondrial disorders and ATAD3A-related diseases specifically, with the hope of finding a treatment that can slow progression and give our children a real future.

Thank you so much for reading and supporting us!

Big hug from Senna and his family.