After my son was diagnosed with Alagille syndrome (ALGS), my husband and I completed genetic testing and discovered my husband too had ALGS. We never would have known he was living with this rare disease, as he is a healthy adult overall. We never had any major signs or medical concerns that would have led us to think there was something to be concerned about with his health.
My husband has led an extremely normal life. He has never been hospitalized or spent much time in the doctor’s office. He had no medical concerns during his childhood either that led us to his diagnosis. However, now that we know and are familiar with ALGS, we can start to link certain things back to the ALGS, such as times when he became itchy. It wasn’t often and was only during certain times, like when the weather would change from summer to fall.
He decided to start a healthier diet and cut out a lot of processed foods and soda, and the itching stopped. We never thought any more about it after that, but now that we know he has ALGS it makes sense. Occasionally to this day if he is getting sick, he will become itchy in his palms and feet and we know that it is due to his ALGS.
Read more about experimental and approved therapies for ALGS
There were a handful of times random things weirdly happened to this body such as hairline fractures in his feet or issues with his back and knee being so swollen, that he couldn’t walk or manage the pain and we ended up in the emergency room with no answers. Looking back, I now know we can likely relate these issues to ALGS. Over the course of a few years, it has become “difficult” for him to spend long periods of time on his feet. He would always be very sore even to the point of not being able to walk.
This past summer we were on the hunt for answers when he woke up one day and couldn’t walk. We had experienced this in the past, but it continued to last for well over 2 weeks. Every morning he would wake up with additional pain in another area of his foot, knee, or leg. It seemed like it continued to grow and was not getting better. We sought answers.
My first point of contact was with our son’s team to ask if they have any ideas as to what could be going on. We went down the line of doctors and made an appointment with a rheumatologist because upon our investigation we found that it seemed several adults with ALGS had rheumatoid arthritis (RA) and gout. He has recently been diagnosed with gout and has completed several rounds of lab work so he can get set up with the proper medication.
Now we are fully in control of his health and learning more and more about how his ALGS directly impacts him. He realizes that it is important to get a full check for different issues that could relate to ALGS. He is currently set up for visits every 6 months to keep an eye on his liver numbers and check for liver cancer since he is at higher risk because of ALGS and the damage to his liver. In the next few months, we will be visiting some additional specialists to check for other issues that ALGS could cause for him, and hopefully, we will find that there are no additional concerns.