I am Heidi and my husband is Tim. We have two boys, Joseph is 3 and Sammy is 2. We live in Northern Utah. Sammy has Alagille Syndrome. We haven’t had genetic testing done, so we don’t know if Joseph does or if it came from either of us.
When Sammy was about a month and a half old, he was admitted to the hospital with RSV. It wasn’t super bad, but they wanted to keep him for observation. He was very small, born at 36 weeks and weighing 4 lbs. 14 oz. The nurse noticed a heart murmur that had never been heard before, so they started doing some extra tests. Then, the doctor noticed he looked a little jaundiced. He wasn’t jaundiced at birth. We were transferred to Primary Children’s Hospital where they threw around things like biliary atresia and Alagille Syndrome. We went home with no answers because he needed to recover from the RSV before having a liver biopsy. About a month later, we saw a GI doctor and she scheduled the liver biopsy right away based on his labs. He had biliary hypoplasia, so we were started on special formula and medicines. We are very pleased with how his liver has done. He takes a few itch medications, but has gained weight really well just drinking formula. Sammy also has autism and has very severe oral sensitivities, so he is still only drinking formula from a bottle, no solids. With Sammy’s heart, we were told he had bicuspid aortic valve, pulmonary artery stenosis, and PFO. No one gave us any indication that those things were very serious so the first time we went to the cardiologist and he was talking about open heart surgery, we were in shock. We have not yet had to have surgery. We do a sedated echo every year, and will eventually have to fix the pulmonary artery stenosis, but our doctor wants to wait as long as possible. Right now, Sammy is doing very well. He went on Livmarli recently and his itch has been lessened by a lot. He is a very happy two year old and has started climbing and pulling himself to stand!
We are very happy to know about ALGSA. We have learned so much through the website and Facebook groups. There are wonderful materials and people to connect with.