After we received the diagnosis of Alagille syndrome (ALGS) for my son, we were thrown into a new world of managing multiple medications, traveling an hour away for appointments with different specialists, and basically learning the medical world ourselves. It is very overwhelming to care for what I would call a “medically fragile” child as well as feeling a whole new weight and world of responsibility.
We were sent home from the hospital with an entire packet of paperwork ranging from the ALGS diagnosis to instructions on the new medications and even detailed test results with scheduled follow-up appointments from several specialists we were referred to visit. Overwhelmed does not even begin describing the way it felt. We had to follow up the very next week for an office visit and repeat lab tests so that we could start on the path of monitoring and managing my son’s ALGS.
Learning about this disease was a challenge. With it being such a rare disease, information seemed limited. All the websites I would review seemed to have the same information and I was not able to learn anything much deeper about ALGS other than surface information. All that I could gather on my own was that ALGS was a manageable disease that could impact multiple organs within the body. With different treatments such as medications and nutrition, it seemed to be manageable.
The biggest piece of information that I found with my research (which the doctors also told me) was that only 20 percent of ALGS patients end up needing a liver transplant. Since transplant was one of my biggest fears, I was able to rest assured and find solace in the data that my son had an 80 percent chance of living life without a liver transplant. I feel like this specific piece of data helped me to settle into my new life with managing ALGS as a caregiver and provided me with hope for the future.
Read more about ALGS therapies
One of the best things I learned about from our medical team was the Alagille Syndrome Alliance. I ended up locating a Facebook page that I was able to join and started to read more and more information about this rare disease and the path that these children and adults were taking and living. Since ALGS is not a “one size fits all” disease, it was still very hard to find specific information that related to my son. When visiting the Facebook page, I saw various cases from kids who needed heart transplants, but their livers were functioning normally. I read stories of patients who were on medications for the extreme itch symptom and even kids who needed kidney transplants, but not livers.
Through the posts, I learned a lot of things that I did not want my son to experience, like the extreme, un-soothable itch that a lot of ALGS patients experience. However, I was still not able to find exact information on the issues that my son was going through. I found myself needing to limit the amount of time I started to research and read different posts on the Facebook page because it would send me into a panic about the future and I would start to become extremely overwhelmed. The unknown and the growing mound of questions relating to ALGS seemed never to end.
After accepting the gut-punch news that my son had a medical diagnosis that we had to learn to manage, we adjusted. We met with gastrointestinal (GI) specialists fairly soon after our hospital discharge. What I experienced from this visit was confirmation that for the time being my son’s other organs looked well and were functioning, but we would have to monitor his progress and meet with them every month.
During these visits, they would ask us a series of questions to assess the current situation and order the labs they needed so they could review what was happening in his body and monitor his liver function. They explained to me that with the degree of my son’s ALGS, we really could only monitor him for now and that would probably be the case for several years.