When a family receives an Alagille syndrome (ALGS) diagnosis, it can be scary and confusing to navigate. Sometimes even getting a diagnosis, specifically the correct diagnosis, can be a hard in itself.
Throughout my journey with ALGS, I have seen several times when families receive the diagnosis, but the doctor giving the diagnosis doesn’t understand or have much knowledge about the world of ALGS. This can get frustrating for caretakers since they feel they are left on their own to figure out this rare disease and have to go down a list of possible specialists they need to visit. Making sure you have a team who is knowledgeable about ALGS and will fight for your child is so important when you’re dealing with this disease.
When a family doesn’t have the right medical team on their side, it can make things even more difficult. The family is left on their own to do research on ALGS and educate doctors they encounter about this disease so they can try to care for their family members (usually kids).
Trying to explain a rare disease can be hard, and even though they have medical degrees, without firsthand knowledge and training sometimes they don’t always understand or agree with the information the family is providing. Occasionally, I will see families who are trying to advocate for their children but are not having luck with their current doctor because of a lack of knowledge.
Read about HCP resources for ALGS
I also see situations where families don’t agree with the plan the doctor has given based on what they’ve seen in the ALGS community and are looking for second opinions to try to help their child. I have seen the struggles some other families have, especially those living outside of the United States and Europe, and it breaks my heart that they have to fight so much on their own.
Luckily for my family, we found a team that is well-versed in the world of ALGS and is highly sought after by other families going through this journey. We were so lucky to have found them, even not knowing we’d receive an ALGS diagnosis. Our team is always happy to consult with other doctors to help educate and spread awareness about ALGS as well as advocate for patients to ensure they are getting the proper treatment by their doctor.
Since our team is so knowledgeable about ALGS, they will always gladly communicate with my husband’s doctors, who monitor his ALGS since they deal with it daily and have more hands-on experience. Our team who handles our kids is the team who refers us to different specialists for certain concerns that could arise with ALGS, and they also have certain tests they like to run to keep a full picture of my children’s ALGS.