Hello everyone. I am a new member here. I guess what I'm looking for is more of advice but I know that many of you are adults and not many young children have been diagnosed with PSC yet. I've done alot of googling and found this site. I am a mother to the most gorgeous little 18 month old girl. She has NOT been diagnosed with PSC yet. She's had many health issues along the way but here's a little (long) story of how all this started...
Back in Jan of this year, after we switched my daughter from formula to cow's milk, she started having diarrhea, which in most cases, it should be constipation, but acceptionally a few do have diarrhea so I thought this was normal. A few weeks later her bowel movements were back to normal. Then in Feb she caught a stomach bug and while everyone got better, she didn't. The diarrhea went on for 4 weeks. I also noticed she stopped gaining weight and did not have much of an appetite. She was never a big eater/drinker but the Dr was never concerned about her weight. I took her into see her pediatrician in March and with all my concerns, her Dr decided to run a complete metabolic blood test. The next day, little did I know her life and my world would change dramatically.
Her pediatrician called me and told me that my daughter's liver enzymes came back elevated in the 400's. (ALT 400 range, AST 300 range). After numerous blood tests, a hospitalization and two liver biopsies (yes 2 biopsies) we stil have no diagnosis. THe liver biopsies showed nothing. Her liver is healthy and normal even with severly high liver enyzmes. We've basically ran all the tests known to man (or so I thought) until I came upon PSC as she has not had a MRCP/ERCP. Her liver enzymes have gone as high as 1,500 which is very very elevated yet during all this, my daughter has never once been less energetic, lethargy, swollen or jaundice. She's the complete opposite of what you would see in a child with enzymes that high. That's what throws the Dr's off. My daughter doesnt have any other symptoms of PSC but from what I've discovered is, this disease progresses slowly in the beginning and some people dont even know they have this until much later on in life or are often misdiagnosed.
One thing I came upon while doing my own research was that some ppl have overlap syndrome, which means they have two or more autoimmune/liver diseases. I know that early on the dr's thought my daughter might have Autoimmune Hepatitis but that was ruled out. By May they thought she definetly had AIH but after more tests and another biopsy of the liver, that was def ruled out but her IGG's and ANA are pretty elevated. So now, we are stuck with no diagnosis. Her Dr doesnt know what else to do. She was also misdiagnosed with Hereditary Fructose Interolence in the beginning but that has been ruled out too. I'm just devastated and lost. I want answers and I just wonder if my daughter could have PSC since I've read that some people with AIH are misdiagnosed and truly have PSC or they have both. Any thoughts would be appreciated.
So sorry for the long post. Please forgive me. Thank you