My son, Jackson, was diagnosed with Alagille syndrome (ALGS) at 10 weeks old. When he was 8 weeks old, we grew concerned with the jaundiced color of his skin and eyes. After consulting our pediatrician and completing lab work, they advised he had some concerns with his liver and needed to seek immediate medical attention.
Upon receiving this news, we took our son to a nearby children’s hospital where a liver biopsy was completed. We were admitted for monitoring and the next day we received news that Jackson had a rare disease, ALGS. Jackson’s liver was functioning, and he had bile ducts, but they were tiny and fewer than a typical liver causing bile build-up. We learned other organs and blood vessels could be affected so we needed to stay admitted starting a work-up to gather the baseline information we needed as a starting point.
Learning to live with rare disease sons was hard, especially because ALGS manifests differently in each person.
The early stages of trying to identify the disease and any treatments, especially when your primary health care providers were uninformed about this rare disease, necessitated finding trusted resources to help understand and manage ALGS.
The National Organization for Rare Disorders (NORD) became the conduit for credible information and creating a comforting community for the individuals and their families battling one of the 7000 known rare diseases. My family was now part of that global community. And February 28, the annual Rare Disease Day cosponsored by NORD, has special meaning for me.
Once we learned his diagnosis, Jackson was monitored frequently. His liver numbers remained stable but elevated. Around 2 and a half years old, Jackson started developing some unfavorable symptoms of ALGS. He became extremely itchy and scratched his body so much he was covered in dry blood and scabs. The itch was unstoppable and affected his sleep. He couldn’t consistently sleep more than 90 minutes.
In August 2018, Jackson started developing xanthomas because his liver couldn’t dispose of his cholesterol and it deposited in his skin. The unsightly xanthomas covered his entire body and were painful. He couldn’t hold toys or climb on furniture without screaming in pain. He couldn’t wear normal shoes or walk barefoot. He lived in swim shoes.
Read more about diagnosing ALGS
In January 2019, after Jackson’s quality of life declined and his liver numbers didn’t get better, we decided the best course was listing Jackson for transplant. We listed Jackson in July 2019. Meanwhile, I was considered and approved to be a live donor in October 2019. We set a surgery date but before it came, we received a call that Jackson was receiving an organ offer. We accepted and in November 2019, Jackson received his gift of life.
Following his transplant, Jackson is a different kid. He plays without pain and is full of energy. Soon, his yellowing and xanthomas dissipated, and itching went away. While transplant isn’t a cure and he still lives with other struggles related to ALGS, it’s changed his life and he is now a 5-year-old boy full of life and enjoying playing with friends.
Rare Disease Day is important because we need to know we aren’t alone. It helps us unite with other families dealing with ALGS and the unknown issues and challenges that become part of our daily lives. People aren’t familiar with ALGS, so it’s important to spread awareness and fight for more research. Jackson is important and so is his quality of life. Making sure people understand ALGS and the importance of organ donation is an indisputable necessity.