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Having a child with a rare disease isn’t something most parents prepare for, especially when the pregnancy has no signs of what would lay ahead. When I learned my son had Alagille syndrome (ALGS), my world was in shambles and needed to be put back together piece by piece.

Following his diagnosis, I worried my husband or I also had ALGS. We were tested and found out my husband has ALGS. Through that testing, we then tested 2 of our other kids who also exhibit symptoms of ALGS,  and they were also positive for the gene mutation. 

When you find out about a diagnosis of this sort—one that’s rare, unexpected, and doesn’t have a direct path forward outlined—you can feel like the future you always dreamed of for your kids is no longer realistic. It’s almost like you grieve the child you thought you’d have, and your life is now thrown into this rare disease whirlwind while you’re standing still trying to figure things out. 

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Read about the diagnosis of ALGS

I worry about my kids’ future from many different standpoints. How will they do in school? Will their diagnosis affect them in their life more than it is now? How will their adulthood be? What will adult ALGS care be like compared to the excellent care they receive now? Will they decide to have children knowing they have a 50% chance of passing this disease on?

As far as schooling goes, we take it year by year. As of now, we are currently working on a 504 plan for one of my kids, but the other one who has ALGS is performing well and doesn’t need any sort of learning or personalized plans currently under 504. I worry every school year about sickness and how we will plan doctors’ visits around the school to minimize the amount of time they miss. I don’t worry about their childhood as much as I worry about them as adults.

One of my main thoughts about their future is whether they will decide to have children. I hope that by the time my kids are old enough to have kids, medical advances will have been made for ALGS and there will be positive outlooks. However, if not, how does this impact my kids? Will it impact their marital status? Will they decide to adopt? There are so many questions! I hate that ALGS must play a factor in these significant life decisions for them and that they risk the chance of having a baby with ALGS and having to navigate this hard world just like we have for them. 

There are so many unknowns medically with ALGS that it seems fitting that there would be so many unknowns tied into the rest of their lives as well. I know that as time goes on, we will continue to make the best decisions for my kids, so ALGS doesn’t rule their lives and they enjoy their blessings and lives to the fullest.