Alagille syndrome (ALGS) is a crazy disease. It can affect so many different aspects and areas of the body. We know that ALGS can cause skeletal abnormalities and even an affected individual to have more fragile and less dense bones. Recently, we’ve experienced a fracture and break with my daughter who has a “mild” case of ALGS.
The first incident was last May. She was playing outside and slipped out of our view. She decided that day was the day she was going to try to climb our 3-foot fence. She couldn’t get down on the other side and slipped and fell off the fence. Upon figuring out that she fell off the fence she was screaming in pain. Soon after trying to calm her down, she started to vomit and then began asking what happened to her.
I knew something wasn’t right and immediately took her to our nearest ER. I assumed she likely had a head concussion and was prepared for the news. What I wasn’t prepared for was the news that she, unfortunately, had a fractured skull and brain bleed and needed to be transferred to the nearest children’s hospital. We were able to get her right into surgery and get the bleed resolved and the skull placed back together with a few screws.
Another event recently occurred this year. She was playing around with her older sister and her sister tripped her and knocked her onto the ground elbow first. Again, we experienced her screaming and crying in a way that let us know she was in a lot of pain. Since it happened right at bedtime and there was no swelling or bones exposed (anything that led me to believe she had a break), I decided to let her sleep through the night and see if it still hurt in the morning.
Read about HCP resources for ALGS
When she woke up in the morning, she was still in pain so I took her to an urgent care center for an X-ray. They said she appeared to have a break in her elbow and referred us to the children’s hospital. They agreed with the diagnosis of an elbow break and put her in a long-arm cast for 6 weeks.
Since she experienced 2 events in less than a year, her medical team was slightly concerned. They said it could be normal childhood injuries or related to ALGS. She’s a very tiny girl who is barely on the growth chart! They wanted to take another look at her vitamin levels as well as her routine labs. Vitamin levels came back in a normal range, so they decided the next best step was to complete a DEXA scan to check bone density. Also, due to the bleed in her brain, they want to complete a baseline brain MRI sooner than later, which is standard practice to check the blood vessels in the brain.
Whether what recently has been occurring with my daughter was just a random fluke we won’t know until we complete the remainder of her testing. If her DEXA scan comes back in the normal range, then it’s something I suspect we will need to further research so we can grasp a better understanding.