Liam, age 3
When Liam was born, there was no real indication that anything was wrong with his health. However, at his 24-hour check-up, doctors noticed that he looked jaundiced and his liver and spleen were slightly enlarged. He would spend the next three weeks in the NICU, while every test under the sun was conducted to determine what the cause was. Bloodwork was sent out for genetic testing and, 4 months later, Liam was finally diagnosed with Niemann-Pick Type C (NPC).
The NPC had caused such damage to Liam’s liver that it was not able to repair itself and it was determined he would need a liver transplant just to make it to his first birthday. Initially, the hospital stated they might not do the transplant, since it wouldn’t cure the NPC. However, the team at NIH, armed with the promising research and Cyclodextrin drug trials, convinced the hospital to move forward with the transplant. At 7 months old, Liam received a piece of his father’s liver. He is now 3 years old and thriving.
Liam has worked hard with physical and speech therapists to get to where he is now. He still struggles with gross motor and fine motor delays, but has made incredible progress. He attends preschool, loves books, puzzles, watching hockey, and charms everyone he meets.
The advances in NPC research and treatment are what have helped Liam to come as far as he has and it’s what we will need to keep pushing forward to find a cure.