From James’ Mother:
James was diagnosed with GM1 Gangliosidosis Type 2 Juvenile on November 7, 2019. After 6 years of trying to figure out why he was regressing, and how we could possibly help him, we received this devastating diagnosis. Finally getting a diagnosis after many years is a small blessing, but knowing that the disease is progressive, that there is no treatment or cure, that it is life-limiting, and ultimately fatal was our worst fear. We will stop at nothing though to help our James with this battle. Advocate for him. Look for treatments and clinical trials, and bring awareness to people about this rare genetic disorder.
James is currently 11 years old. He can still say a few words. Eat and drink on his own. Walk on his own for a few minutes at a time, crawl, stand and get down on the floor on his own to play. James has scoliosis and a shortened trunk with a pigeon chest due to the disease, but no organ involvement that we know of as of yet. James does wear a pull-up, but can still tell us when he’s going. He also has the beginning signs of congenital hip dysplasia.
James has a special love for life. He is always happy, smiling and laughing. He loves company, loves going to school, and is very social. He can still navigate his iPad, play his PS3, loves to play with his Rescue Vehicle Toys and watch his favorite movies. He loves to eat and enjoys his fresh fruits and vegetables the most. James is very strong willed and wants to do a lot on his own. This disease is slowly taking his life, and a cure has to be found soon…
James is the most pure, gentlest of souls. So full of life and love for others… I hope one day there will be a cure for James, and all the children who suffer from GM1 Gangliosidosis… Until then, we just continue to savor and enjoy every moment of everyday with this sweet little boy…