The itch associated with Alagille syndrome (ALGS) is, in my opinion, one of the worst symptoms that can be associated with a disease. After we received my son’s diagnosis, I prayed that this was not something that we would experience. I read story after story of parents and children having sleepless nights, bloody sheets, and extremely unhappy and scabbed-up kids.
My son did not start itchy and was not for quite some time. My daughter, who was also diagnosed with ALGS, was itchier than him for a long time. Her itch seemed to intensify as a baby and as she started to grow, it almost seemed as if she was outgrowing it. As an infant, she would itch her ears and body to the point that they would bleed.
It should be noted that she never slept, and I could not figure out why. Looking back now, I believe it was because she was so itchy. Once we got past the constant itching, she started a new habit of rubbing her back on the floor during diaper changes to soothe the itch. Often, we would catch her with her shirt pulled up past her belly button and she would rub her shirt back and forth on her stomach to help itch herself. She is now 7 years old, and she still uses her shirt to rub her stomach and will sometimes complain of itch, but not often. Thankfully, it does not seem to be as bad for her.
A few years later, when my son was around 1 year old. is when the itch started for him. I first noticed it around October when the weather started to change from warmer weather to dry, cool air. I was hoping that it was just a seasonal thing, but once the itch came it never left. During the day he did not tend to itch as much (maybe because he was distracted), but it was still there. But nighttime was an entirely different story. Nights were awful. I can remember the sound of him scratching his skin at night and the cries that he had. He would finally fall asleep only to be woken up by the nagging itch. He was so frustrated and so was I frustrated. And exhausted.
I tried everything I could to help soothe the itch and help him get some sleep. I kept him in my room, and I kept the room cold. Even during the winter, I would open windows so there was a chill in hopes of helping keep the itch at bay. I dressed him in long-sleeved, cotton onesie pajamas to try to protect as much of his skin as possible and keep his clothing breathable. I would lather his body up in coconut oil every night right before putting on his pajamas to try to get his skin as moisturized as possible to help try to cut down on the itch.
Night after night, he would not sleep. We both were exhausted. Day after day he would wake up with dried blood all over him and fresh new scratch wounds. He was covered in scabs from his head to his toes. His poor little face was destroyed with cuts. It was truly heartbreaking to watch him suffer from something I could do nothing to change for him.
Read more about the treatment of ALGS
Of course, we also tried several medications to see which worked best for him to help control the itch. For a while, he did well on rifampicin and then it seemed to become less effective over time, so we made a switch to naltrexone. At first, we saw no change but after about a month it seemed to provide some relief. The relief seemed to be hit or miss though.
After experiencing the intense itch that I did with my son, I can truly say it is heartbreaking. As an adult, I could not imagine having an uncontrollable itch that you cannot soothe no matter how hard you try. It is an awful part of living with ALGS. Thankfully, there have been some new medications approved for ALGS patients with pruritus and many patients have had great success on these drugs. This gives me great hope regarding the future of itchiness associated with ALGS and the hopes that more people do not have to suffer.