PCRCD - Pediatric Center of Rare and Complex Disease

A mother’s story… I wanted to share my story so that others might not have to experience what I’ve had to go through with my son, Tommy. Things began to deteriorate with Tommy around the age of three. Up until that time, he was seemingly a healthy kid, although it was clear that he was developmentally delayed secondary to his premature birth (birth weight 4 lb) as one of twins and insult to the brain during his delivery (he was diagnosed with spastic cerebral palsy). I went from doctor to doctor and I felt that no one was really listening to me when I said that my son was sick and getting sicker. Often our visits consisted of the doctors confirming that Tommy was developmentally delayed. They wouldn’t get past his diagnosis to look at the significant medical problems (recurrent infection, severe diarrhea, poor growth, etc) that he was having even in comparison with his twin brother who was also diagnosed as spastic CP. We traveled the country visiting children’s hospitals and pediatric specialists in every field. Each doctor we visited would focus on one small piece of his problems, yet no one was able to connect the dots, and my son is getting sicker and sicker. I could clearly see that I was losing my child. I finally decided to take matter into my own hands and began to review his charts myself. Again, we traveled across the country, met with countless doctors, and became more and more discouraged as our son became more and more sick. Finally, we met a wonderful gastroenterologist who scoped him and documented that he has massive yeast infection in the whole GI tract (esophagus through colon). However, routine immune workup did not reveal any specific defects and aggressive anti-fungal treatment by the infectious disease specialist did not turn him around. Thus this gastroenterologist referred us to Dr. Harumi Jyonouchi. She was the first doctor who actually was able to look at Tommy’s clinical picture as a whole (viewing his developmental delay is partly secondary to his underline medical problems). Advanced workup in her laboratory also revealed what factors are lacking in Tommy’s immune defense, this paved a way to a new approach of treatment -- implementing a defective immune factor at least partially and treating him from a view of his primary medical problems. This meant so much to us, to hear that a doctor was willing to listen. Under Dr. J’s care, Tommy became less sick, catching up his growth. He has grown 6 cm in height and has gained 26 pounds within a year: beforehand he has not gained weight for 3 yrs and not gained height for 2 yrs…he’s finally getting back towards the growth chart with accompanying cognitive development. It is now clear that his developmental delay was also associated with undiagnosed underline primary immune problems and its secondary complications (malnutrition, etc.). More importantly, I’ve gotten my child back, I’ve been given a quality of life, and my child has been treated with dignity. It would be invaluable to have a Pediatric Center for Rare and Complex disease, a place that would treat these children as a whole and putting puzzling pieces together. Each child is very unique and children give us various signs to show us that they are in distress. Sometimes we miss those signs. Dr. J was able to make sense of the cascade of the events that were taking place with my son and began to help him gain back his life. It’s a phenomenal relief to know that someone’s listening, that someone’s trying to make sense of what’s happening, this is a tremendous benefit to these families.