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Once my son was diagnosed with Alagille syndrome (ALGS), we realized that my daughter’s genetic test was likely to confirm the JAG mutation for the rare disease. As a baby, she was extremely itchy and would scratch herself to the point of bleeding. She was also very tiny and could not even get a spot on the growth chart. I had to be induced during my pregnancy because she was measuring so small, and they were concerned about intrauterine growth restriction. 

We knew before getting genetics to confirm her case of ALGS that it was mild. She was an overall healthy kid and we never had any medical concerns with her besides unexplained itchiness. I knew from dealing with my son that we were looking at an entirely different situation. She was 3 years old when we received her ALGS diagnosis and were told that if she had any major concerns, such as her heart or kidneys, they would have likely presented by now and she would be receiving treatment. 

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Since her initial diagnosis, we do the normal things such as seeing a specialist every 6 to 12 months for her and getting lab work at least once if not twice a year. She has had baseline ultrasounds of kidneys and liver completed, her eyes checked, and is followed for her mild pulmonary stenosis. Now we are at the point the team wants to dig deeper and further explore her ALGS. First, because of her age, and second because of some events that have happened to her in the past year. 

They would like to have a bone density scan completed due to 2 broken or fractured bones in the last year. Even though her vitamin levels look good in labs, they want to ensure that her bone density is OK and does not require additional support. She is also at the age where they want to conduct an MRI of her brain to check for ALGS-related concerns like aneurysms and Moya Moya. 

Sometimes I like to live in a world where we do not evaluate her ALGS further because it gives me a lot of anxiety. I know ALGS can be sneaky and cause issues out of the blue. One minute you can be happy and the next you have taken a big right turn and are now in the process of finding solutions to treat whatever randomly came to be. The anxiety can be overwhelming if I think too far into her future or her medical care. I know right now in life she is doing well medically and thriving as an overall healthy 7-year-old, but there is an underlying fear that it can all be pulled out from under me any minute.

The experience ALGS has given me with my son has become deeply burned into my core and it creates an environment of fear. I know that she is not my son and her case is likely going to be very different from his, but it does not make it any easier as a parent. I want her to live a long, healthy life free from as many ALGS symptoms as possible.

I know that we need to get the tests completed to ensure that she is OK and continues to be healthy and we have them scheduled, but hopefully one day the fear surrounding the unknown with ALGS can become minimal for me.