Along with an Alagille syndrome (ALGS) diagnosis comes a world of symptoms. As a parent of a child with ALGS, I spent a lot of time hoping I would never have to face some of the worst symptoms. However, when Jackson was about a year into his journey with ALGS, my husband and I noticed a symptom we never wanted to see: xanthomas.
I took Jackson to the pool and on his stomach was a round, raised bump. I was anxious about this bump, but it was the only one I could find, so I waited until his next appointment to show the single bump to his liver team. After looking at it, they decided to run lab tests to assess how his bile acid and lipid levels looked to determine if it was a xanthoma. Unfortunately, it was.
All I remember after finding the first, lone bump was that the xanthomas spread like wildfire on his little body. We noticed his first xanthoma in August and by January he was covered, and that led us to list him for a liver transplant based on the declining quality of life he was experiencing.
Of course, this wasn’t the news I wanted to hear. I remember his liver doctor telling me to think of his life as a school-aged child and how his xanthomas would limit him in many ways; even holding a pencil in his hand would be difficult.
We tried cholestyramine before discussing a transplant, but it didn’t work. Not only was it hard to time out since it had to be separated from other medicines and foods and drinks, but the taste and texture were awful. If I got him to take it, he would throw up immediately.
Read more about testing for ALGS
The xanthomas took away his childhood. Jackson had xanthomas covering his hands and fingers. They became so painful that he was unable to play with toys. If he would hold the toy the wrong way, it would cause so much pain that he would cry out. The xanthomas on his feet caused so much pain that he was both unable to walk outside on the pavement barefoot, and unable to wear shoes because they rubbed and caused pain. We found a specific pair of swim shoes that were the only shoes he was able to stand. They became his everyday shoes and if we lost them, I’d be lost.
His knees were also covered to the point that he could not climb up on furniture because of the pain from the pressure put on the xanthomas. Not only did the xanthomas cause him pain, but they were also disfiguring his body. During the summer months, when we would spend family time on the boat and at the beach, people would notice and ask what was wrong with him.
The xanthomas started to spread to his face and make a home on his lips and the bottom of his nostrils, causing his face to appear disfigured. They were awful. I was constantly explaining to everyone (even doctors) what was causing these very visible symptoms.
Once Jackson had his transplant, the xanthomas quickly started to melt away within days. And after receiving his new liver they were no longer painful. Within a few months, they were gone, but hyperpigmentation of this skin remained. It’s been over 2 years since my son’s transplant, and you can barely tell this nightmare ever existed.