My name is Stephanie. I am Tristan’s older sister and a Registered Nurse. I spend a lot of time with him as he requires nursing care around the clock. I give Tristan his enzyme replacement therapy infusion by IV every other week in the comfort of his own bedroom. We have a special bond.
Tristan was born in Portland, Or. He was quickly admitted to the Neonatal ICU due to cardiomyopathy (enlarged and weak heart) and low oxygen levels. He spent 6 weeks there and not one doctor had a diagnosis for him.
My amazing parents, Sean and Cassie, have been foster parents for medically fragile children for over 15 years. They got the call that Tristan would need a foster home and would be on hospice, likely not to live past his first birthday. My parents held a family meeting (as they had already adopted 5 other kids at that point and they were old enough to understand Tristan may not live) everyone, including my 3 other older biological siblings, agreed Tristan needed a family.
Tristan came home from the Neonatal ICU on oxygen and with a feeding tube. He was very weak. We all fell in love with him. Only a few weeks later Tristan became very sick with RSV (common cold but very harmful to Tristan since his health was already comprmised). He ended up in the hospital again. This time he was in the Pediatric ICU for 52 days! My dad stayed with him every single night advocating for him. This is when a Resident Doctor who assessed Tristan brought up the rare disease Pompe.
Genetic tests were sent out to a few major hospitals and Duke University came back with the diagnosis– yes, this was infantile Pompe disease. Pompe is a very rare genetic disease where the body stores glycogen (sugar) in the body’s cells(specifically in the lysosome). This is debilitating to the heart and muscle cells. There is no cure, only a replacement enzyme infusion therapy which assists in breaking down some, not all, of the stored sugar. The infusion is life long. Without the infusion therapy, babies with the infantile form of Pompe typically don’t live past their first birthday.
Tristan started the infusion right away during that hospital stay. He was also started on all kinds of heart meds, blood pressure meds, and diuretics. He was a sick little guy. He eventually got to come home again and to everyone’s surprise remained relatively stable up to his first birthday. Shortly after his first birthday he had a huge life changing event at home. My mom preformed CPR and he was life flighted to the hospital where he had to have a trach placed and ended up on a vent because he was now too weak to breathe on his own (a lot of infantile Pompe patients need this type of extra support because of floppy airways and weak diaphragm muscles).
Eventually Tristan came home again and has had many up and downs in his short life of 5 years, he has beaten so many odds already!
Because Pompe is so rare, Tristan’s doctors didn’t know much about it or how to treat it. They rely on a team of specialists at Duke University for new developments on the disease.
The latest news is that increased doses of the enzyme replacement therapy could be better. My parents and Tristan’s doctors have tried to get Tristan this increased dose but he has been denied by insurance due to cost.
Tristan has the opportunity to meet the specialists at Duke this summer where he can be assessed and have an individualized treatment plan just for him. With this assessment his chances of getting the higher dose of the infusion will be so much greater. Also, it will just be amazing for his quality of life to meet these specialists.
