After getting the results from our family’s genetic testing and learning that my husband also had Alagille syndrome (ALGS), we were devastated. We were hoping that my son’s diagnosis had been a random mutation, and we were in the clear with our other children. We had dreams of having another baby and now with this looming, we weren’t sure. 

We had a lot of thinking to do. If we had another baby, we knew there was a 50/50 chance the baby would have ALGS. We knew my daughter and husband had “milder” cases of ALGS with not much medical involvement, but my son was on the opposite end of the spectrum. What made the decision-making more difficult, was seeing how different ALGS could be just within my family. While my son’s case wasn’t ideal and he did have liver complications, I knew it could be even worse, and the heart could be affected. Tetralogy of Fallot (TOF)  stood out in my mind.   

The unknown of how ALGS would impact another child caused me fear, even more than the fear of the unknown was whether or not I could physically and mentally handle the stress of having another child with ALGS.

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A little more than a year after living in the ALGS world, I found out unexpectedly that I was pregnant. I was distraught. I was afraid of what was to come and felt I was disconnected from my entire pregnancy.  Even on delivery day, I didn’t want to be there. I didn’t want this baby to come. I was so afraid that my only coping mechanism could be ignoring what was happening. 

My OB was familiar with the situation we were in and tried to discuss prenatal testing options. Our liver team felt these tests weren’t necessary because they were invasive and even if we found out the baby had ALGS we wouldn’t know the extent of involvement. It would really get us nowhere. My OB researched and offered for my husband and me to do a blood test through Invitae that screens for ALGS. 

However, once we submitted my husband and son’s results, they decided they were unable to complete the testing because of the specific JAG1 mutation my family carries. They didn’t want to be responsible if the test wasn’t accurate (especially because it was a new test), so that option didn’t pan out.  The only thing we could do was wait and see. We were offered genetic counseling which we declined. We’ve already been down that path and we were likely more knowledgeable about ALGS than the genetic counselors in maternal and fetal medicine. 

We also turned down any additional testing such as more detailed scans of the fetal organs because they never detected any issues with my son in utero and we knew after birth the baby would have a full assessment completed by our team of specialists. 

Read more about the diagnosis of ALGS

During the pregnancy, my only saving grace was that we already knew what we were dealing with if the baby were to have ALGS. This time around it wasn’t going to be an unexpected rock to our world. We also had an amazing team in place. A team we trusted with my son’s life and a team that would be able to jump in and start caring for my newborn son if he also had ALGS.

After my younger son was born, I immediately fell in love. All my fears surrounding ALGS and the disconnection during my pregnancy vanished. We took him to the pediatrician for his newborn checkup and the doctor offered to submit a hepatic panel to check his liver numbers. She called with the news that his direct bilirubin levels were high and at that point, I knew he too had ALGS.  We were immediately in contact with our team to get him followed and assessed for his involvement with ALGS.  

Thankfully, around 8 months old, his direct bilirubin numbers hit zero and he doesn’t seem to follow in the same footsteps as my older son. He has different concerns than my son, daughter, and husband but he is healthy and thriving and right now we don’t have any major medical concerns. It was a relief to get the news of the normal hepatic panel. It’s the biggest blessing at each visit when they tell me they believe he will be following a different path than his brother and they don’t expect a liver transplant in his future.