Sophia has been itchy for as long as I can remember…as she was able to scratch better with age, it just got worse. At first, when she was a baby, her pediatrician thought it was eczema and gave me hydrocortisone. As the itching got worse, we thought it best to go the a dermatologist. He too diagnosed her with eczema. She would tell me that the inside of her ears itched and I knew it was internal. She would wake up at all hours screaming and inconsolable. We would wrap her in ice packs or give her cool baths. I asked to see an allergist…had her tested for food allergies at the age of 3.
Everything came back negative for allergies but by the grace of God they had accidentally tested her liver enzymes. They were astronomical. They were supposed to be around 300 and hers were 2500. Her pediatrician sent her to a gastroenterologist at Akron Childrens. He was convinced her numbers were high due to bone growth and dismissed it.
In the meantime, her baby teeth are coming in with cavities (she was deficient in vitamin d due to bric). By age 4, she had around 15 cavities. Her pediatrician, dermatologist, and allergist were all communicating trying to find out what this could be. In the meantime, I took her to a psychologist thinking maybe it was anxiety. More blood work…tested positive for scleroderma…sent to rheumatologist. Ended up being a false positive. That doctor did a biopsy for mastitis…came back neg.
At this time, she was so bad that she couldn’t wear underwear or socks because they would snag on all her wounds or it would rub her raw. She was on a total of 5 different antihistamines and also steroids. She was 5 years old by this time and I was pregnant and exhausted. Finally, I reached out to Cleveland Clinic. Started out with a dermatologist who put her on a 6th antihistamine. After 2 days I took her off all meds and we did more blood work. Her ANA came back positive so again we were directed to a rheumatologist. He was at a loss, but because of her elevated liver levels he directed us back to Clevelands gastroenterologist. She sent away genetic testing.
Finally weeks later we had an answer! Bric 2. They prescribed her rifampin and Cholestyramine. My mom was talking to drs at UPMC in Pa. They were suggesting solutions that Cleveland hadn’t even heard of. And if she ever needed any kind of liver surgical procedure they would send her to Pittsburgh so we went there to check it out. Loved the Dr there.. he takes his time and tries his best to answer any questions we have.. pretty sure he’s part of these studies..Dr James Squires. They also have us in a test study to find out as much as they can about her and this disorder.
Currently she is on Welchol (in place of Cholestyramine because she can now swallow pills). She takes Ursodiol twice a day and naltrexone once a day unless she has a flair..then she takes it twice a day. Her last flair was about a year and a half ago…the longest she’s ever gone. They monitor her liver with ultrasounds and blood work once a year unless she has an episode. Can’t tell of any triggers. Sometimes she has anxiety in certain situations and she scratches automatically. She’s very sensitive to clothes, socks, shoes etc…