Tyrosinemia

It's strange but lastnight I was watching my favorite channel, TLC, and a show either called Medical Diagnosis or Mystery Diagnosis (I can't remember, it was late) was on. I kind of was watching that and flipping back to the news but there was one story I caught that blew my mind.

It was a story about a three month old baby girl (in 1995) who was experiencing spitting up and diarrhea, and then one day her parents noticed her belly was distended. They brought their daughter to the E.R. right away for testing. Everything came back normal except they drained the belly and the fluid or ascites kept coming back.

After running all tests on her doctors could not find out the source but new that many times in adults ascites it stems from a liver problem. Although this girls liver numbers were all coming back normal there was one thing that hadn't been tested, her blood clotting factors or coagulation. When those numbers were tested the doctors found out her liver was indeed failing her and the ascites was protein and amino acids not broken down by her liver.

Wow, I thought to myself, sounds a lot like Jackson. In fact almost identical minus the diarrhea and spitting up. And we knew he wasn't coagulating because of oozing blood from blood draws.

Anyways....it turns out this girl was diagnosed with a rare genetic disorder that is 1 in 100,000 called TYROSINEMIA. The same thing Jackson has/had. Isn't that too crazy?

Well, this little girl ended up not having a liver transplant because the medicine they use worked for her and her liver wasn't completely not functioning so with the medicine and special diet she is a normal 13 year old girl.

It seems so crazy that this story was on. Matt was sleeping but I actually woke him up to watch with me because, well, I've never met or seen another famliy with Tyrosinemia because it's so rare. It was a neat experience and I thought it was crazy that Jackson's rare disorder was on a television show....it must be pretty rare then, right? It was cool to watch and I just had to share.

Steph