Once you receive an Alagille syndrome (ALGS) diagnosis, you understand based on the statistics that you have approximately a 20% chance of needing a liver transplant at some point in life. Of course, anyone who deals with this diagnosis always hopes they are one of the “lucky” 80% that can manage their symptoms and disease without needing to go through a transplant.
During the beginning of our journey, my son Jackson was stable. He was closely monitored and followed by several specialists. The medicines he was on were very effective at managing any symptoms he experienced. We were very hopeful that as he continued to grow his liver would “figure out” how to work with the bile ducts he had and that we would never need to hear the word transplant. For the entire first year of our journey, it was a wait-and-see how his progress was trending. Each lab visit was a source of great anxiety while we waiting for the results.
Eventually, after a year or so, we started to experience awful symptoms — symptoms that I had always heard about but I wished we would never have to deal with. Jackson had been growing increasingly itchy and it was hard for him to sleep through the night. He constantly had new scabs and wounds from scratching his skin. On top of the constant itch, he was developing xanthomas at an alarming rate that were disfiguring his body. Although his labs were stable, they were never trending down. They were always at a standstill, indicating that as time went on his liver continued to become more damaged. His liver enzymes were always high, he had low WBC, and he had a high direct bile level.
After about 2 years of dealing with Jackson’s ALGS diagnosis, we heard the words we were always dreading. I received a phone call from our hepatologist explaining that while Jackson’s labs were stable, they were not getting better. This signaled that his liver would continue to be damaged to the point that he would need a transplant. It probably would not be a quick decline, but they were also concerned that he had symptoms that were affecting his quality of life.
Jackson’s doctors felt the symptoms he was experiencing were bad enough that we needed to go ahead with the transplant him now versus trying to treat him when it wasn’t guaranteed to work.
Read more about the diagnosis of ALGS
Of course, as a parent receiving the news that the liver team was ready to list your son for liver transplant is a very terrifying moment. I talked to the team and asked if there were any other options, including any drug trials we could try, or anything, in general, we could do instead of a transplant. He was only 2 years old. He seemed so little to go through such a major, extensive surgery. The team explained to me that it was best to go ahead and transplant him now while he was strong and healthy and alter the quality of his life toward something better.
Once I had time to process the news, I was terrified and didn’t know what to expect. I turned to the ALGS community for advice from other parents who have been through the transplant process to gather as much information as I could. I wanted to learn everything I could about what we were going to experience. I was preparing for the next step of the journey which was to go through the transplant education and get placed on the list to receive the lifesaving organ we needed.