Cade Charles (born 4-15-04) Cade was a very healthy baby with no signs of liver problems at birth. Cade was 4 months old when I brought him to the pediatrician's for what I thought was a bad cold... maybe even a dreaded ear infection. He had been eating well and pretty happy, but lethargic. After the doctor laid eyes on him, she began asking questions about his off-coloring, bleeding episodes and bruising. She found 4 bruises on him that I had missed and also strung together a series of bleeding events that had happened over 3-4 weeks prior that I never put together-- a clipped nail that bled for 2 days, a bloody nose for 2 days, a small scratch that bled, very dark stools, and speckles of blood in his spit up ( which looked like oatmeal specks to me). This lead to being sent directly to Children's Hospital in Philadelphia.
The head of the ER and of Hematology at CHOP had never seen such an extended clotting time... over 100 seconds to clot his blood. The normal healthy person clots in 13 seconds. They said he would have had 24-48 hours to live if I never brought him in and had been bleeding internally for at least 3 or 4 weeks... serious vitamin K deficiency. He had a blood and fresh frozen plasma transfusion and was back to normal.
Test ensued, and in 2 months they called it PFIC or an unknown variety. Not, 1 not 3 but maybe 2. His itching was HORRIBLE by then! He received an internal diversion in January 2005 that failed after 1 month and was on several medications that worked in the beginning and then eventually did notwork. He finally received the PEBD surgery in May 2005. During which he needed another transfusion because of his vitamin K deficiency. This has been an up and down struggle for Cade. Some days it is great... weeks are great and then other times he itches for days or weeks at a time. They are continuing to do tests but the jury is still out for us. It definitely has been better overall, but he is in such an itching state right now, it is hard to see the great benefits.
During the past year, we have found that my husband had an aunt and uncle that passed away from the same disease in the 1950's at ages 3 and 20. Obviously, PFIC was not named at that time, but we did locate a 50 page research paper done on his aunt by the Baby Hospital in NYC. Technology has improved, thankfully!
Cade is just getting on the charts and has been making strides with his height to weight ratio. He eats like crazy and never seems to gain the weight (lucky him!) He is 18 months old --funny and outgoing-- we just want to see this awesome personality shine all the time. We are so happy that there is this informational outlet for parent's with PFIC kids. Thank you!