Sebastian

Sebastian's Story

In September of 2022, we were on our way home from a Fall festival when we received a call from my sister in law. She told my wife and I that someone had sent her a message on Social Media based on a picture that she had recently posted with her family. In this message she commented on how beautiful her family was and if she had ever heard of Hunter’s Syndrome. Both my wife and sister in law are nurses, and neither of them had heard of it. We quickly started googling it and we were in awe at the information that we saw. We were curious as to why she had approached her about it. She proceeded to say that she thought that my nephew may have this disease and that the signs of this disease can go without any notice. She told us that her son and nephew both had the disease and that our nephew had a resemblance. We asked if she wouldn’t mind sharing pictures and we then were able to connect some of the dots in the similarities. When we saw the commonalities, my sister in law proceeded to dig deeper with doctors and get genetically tested. At the time my nephew was 4 years old and my son was 3 months old. In October of 2022, she received the heart breaking news that our nephew had the disease and in November of 2022 we found out my son did too. The emotional roller coaster that we were on was unparalleled. Words are not enough to explain the feelings we were experiencing as a family. We were shortly after then connected with Project Alive. We scrambled to learn as much as we could and as fast we could to see what treatments were out there and where. 

In May of 2023, my son received gene therapy through RGX at the Children’s Hospital of Philadelphia (CHOP) and in January 2024 he started Elaprase infusions weekly. Today, we continue to be in prayer and hope that our son, nephew, and all the children & families affected by Hunter’s Syndrome will be cured. 

Sebastian is such a loving and caring little boy. He loves to learn and broaden his horizons every chance he gets. He’s eager to ensure that everyone around him is taken care of especially when it comes to food! He connects with everyone on an emotional level. He is a social butterfly and gives off an amazing amount of energy whenever he enters the room. We could not have asked for a better son.