Before we knew my son would be diagnosed with Alagille syndrome (ALGS), we were set to meet with a hepatic doctor who specialized in biliary atresia and other rare liver diseases. I can remember the day of this appointment and all the emotions I felt before, during, and after the appointment like it was yesterday.
My husband had just started a new business relatively close to finding out our son had something wrong with his liver. Unfortunately, he wasn’t able to attend the appointment with me so my mother-in-law stepped in and attended the appointment with my son and me, so I wasn’t alone.
I remember the morning of the appointment and how early we had to get up. I was walking around the dark, silent house with my stomach filled with knots dreading this appointment. I was packing a bag in preparation to spend the night at the hospital in the event we’d be admitted. My sister-in-law came over so she could watch my other kids while my husband went to work and I went to the appointment.
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When she arrived I tried my best to hold my composure and not break down. My mother-in-law came and it was time to go. She drove us to the appointment which was about an hour from our house. I clearly remember sitting in the car in silence for most of the trip. There were a lot of things going through my mind such as if my baby would be OK and if he would even survive this.
Read about HCP resources for ALGS
When we got to the appointment and met with the doctor I remember trying to persuade the doctor of all the positives and reasons why it couldn’t be a liver disease. My son was gaining weight and his stools weren’t pale or white. In my eyes, the only concern was jaundice.
As we talked to the doctor I remember him mentioning some other rare liver diseases we could be facing. The game plan was to run a new set of labs and if they came back the same or worse, we’d do a liver biopsy. Waiting for those labs to come back, which took about an hour, seemed like an eternity. I prayed the entire time things would look better, but they were worse.
We had the biopsy done and settled in our room for the evening since we were admitted. I felt the loneliest I’ve probably ever felt in my life. I was alone in a dark room with a newborn baby whose future we were unsure about. Once I was able to settle the baby, I spent the rest of the evening Googling and researching the liver diseases mentioned at the appointment and created checklists marking off his symptoms vs what the disease presented as. The 15 hours we’d wait for biopsy results seemed like a lifetime.
Once we finally received the results and found out my son had bile ducts, but they were tiny and few, we realized we were looking at an ALGS diagnosis. At the time, any diagnosis seemed better than the initial idea of biliary atresia, so I was thankful for this news. It seemed manageable and like something I could deal with. I found reassurance in the fact that only 20% of ALGS patients ended up with transplants, but I never expected my son would be one of them. It felt like we could finally see the light after some of the darkest nights we were experiencing.
