When my third child was born, I was so excited that we had a little boy to welcome into our family of girls. My pregnancy and birth were easy with no known issues. But I was not prepared for the journey of the struggles that would soon come our way following his diagnosis of Alagille syndrome (ALGS).

One night, when my son was around a month old, I noticed a yellow tinge to the corners of his eyes. Of course, I took to Google to see if I could find answers. A few results came back that I knew were not possible, like hepatitis. Since the results did not seem productive or possible, I brushed off the yellowing of his eyes.

Days later, my mother-in-law mentioned my son was looking more jaundiced than at birth. I remembered reading that sometimes newborn jaundice can heighten before it gets better.  The next day at his wellness check, I mentioned this to the pediatrician. She told me to sit him in the sunlight for a few days and call her if his jaundice did not clear up.  A few days later, she called and suggested I take him for lab work, so we went right away. 

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The next day the pediatrician called, and I could never brace myself for how that conversation would change our family’s lives forever. She advised the lab work came back and the results were showing that his liver was not functioning properly, and he had a disease called biliary atresia (BA). She said I needed to go to the nearest children’s hospital immediately for an ultrasound of his liver. She gave me a quick rundown that he would need a Kasai procedure within a few days to try to avoid him needing a liver transplant. The doctor also said he would likely lead a life of frequent hospitalizations and medical issues. 

I was given instructions to have him start fasting and to head for the ultrasound within the next 4 hours. We had completed the ultrasound and the pediatrician called to advise the diagnosis was, indeed, BA. She scheduled a HIDA scan for the upcoming week as the next step.

That night, I reached out to a mom’s group for support and a mom advised me that a children’s hospital within an hour of us in a nearby state was a top hospital in the nation for BA. Thankfully I was able to get an urgent appointment. We met with the hepatologist, and he went through a list of screening questions and reviewed the previous lab results. They were surprised that with the diagnosis of BA that my son was gaining weight and his stools weren’t gray, white, or a concerning color.

We immediately completed more lab tests that would determine the next steps. If they came back the same or higher than the other results, we would complete a liver biopsy. I remember the doctor telling me it could be BA, but there were other diseases that could be a contender, such as Alagille syndrome. He said they were scheduling the Kasai procedure and would wait for the biopsy results.

We were admitted the night of the biopsy and given results the following day. When they came to talk to us, they said our son did not have BA, but it appeared that he had ALGS.  They said he had bile ducts that were working, but they were smaller and fewer than a typical liver. There were other tests they wanted to complete to confirm the diagnosis along with a genetic testing panel, but that would take several weeks to receive results. They also ran an echo/EKG, which showed a mild pulmonary stenosis, took an x-ray of his spine, which was normal, and did an ultrasound of the kidneys/liver/abdominal area, which also showed no abnormalities. Finally, an eye exam showed no posterior embryotoxon. 

While the biopsy pointed to ALGS, the other findings were normal and not indicative of ALGS. The team still felt confident in the ALGS diagnosis and canceled the Kasai. They sent us home with ursodiol, AquADEKs, and vitamin D. Once the genetic testing came back, it confirmed a mutation on the JAG1 gene, verifying the ALGS diagnosis. 

Finally, we created a team of specialists and came up with treatment plans so that we could monitor the path of my son’s ALGS. We were fortunate that we have close access to a hospital that specializes in ALGS and consults with families all over the globe about ALGS and that they were able to diagnosis my son within days.