Anna grew up reading food labels, extremely aware of what she or anyone in her family was eating. Both she and her older brother have galactosemia, a genetic metabolic condition caused by pathogenic variants, or mutations, in the GALT gene or, less commonly, in the GALK, GALE or GALM genes. These genetic changes mean that the body cannot convert galactose to glucose. Galactose then builds up in the body and causes damage to tissues.
Type 1 galactosemia can be life-threatening for newborns and can cause lifelong cognitive, neurological, speech and fertility complications. Lactose in foods such as milk and dairy products is converted to galactose in the body, so the current standard of care for galactosemia is a lactose-restricted diet. If lactose is removed from a newborn’s diet quickly, the most severe symptoms, like liver failure and death, may be avoided. However, the body produces endogenous galactose, which means it produces galactose naturally, no matter what foods are eaten. Even when the recommended diet is strictly followed, lifelong complications can still occur.
Anna spoke to AllStripes about growing up with a lactose-restricted diet, becoming a mentor within the galactosemia community, balancing her rare disease with ADHD and thriving while living with galactosemia.
My older brother Jacob has a classic case of galactosemia, so when I was born, my parents knew that there was a chance I would have it, and I was diagnosed as an infant. I was raised reading food labels and things like that so galactosemia doesn't really affect too much of my physical health; I already know the diet and what might make me feel sick.
Going to different conferences hosted by the Galactosemia Foundation over the years, I’ve learned the diet becomes less limited every few years. Some cheeses and chickpeas are now ok to eat. Overtime I’ve been able to expand my diet and it’s always exciting trying new foods.
At the conferences, I always enjoy meeting new families and people like me, especially now that I'm a young adult. Something that is interesting to me is that this year we were talking about young adults with galactosemia and how that's still a new topic of research.
Thankfully, I was able to meet a lot of young adults like me at the conference. It's nice being able to tell some of these kids that they don't have to worry so much about growing up. Some of them asked me, “What's it like to drive?” – just little things like that. And I feel like hopefully I can show these kids that they can grow up and still be independent.
Growing up, you can feel a little different. Like if you're at school and someone brings in treats to the class, and you're pretty sure that you won't be able to have something like that. That can be disappointing, but I always expected there would be things that I can't eat. I always try to bring snacks with me wherever I go so that it doesn't really happen or if it does, it's not super bad.
When I was a kid, I didn't really know too much other than the fact that dairy makes me sick, so I can't really eat it. I'm beginning to understand a lot of the things that are going on with my body and things that I can do to have at least a little bit of agency. It helps to have more knowledge and awareness of what's going on and know that I'm not the only one who's going through this.
I also have ADHD along with galactosemia, so that affects my everyday life and just being able to accomplish daily tasks. I usually keep lists so I can stay on track of what I'm doing. Something that has helped me is these little cards they give out at galactosemia conferences that help us know how to look for good and bad dairy ingredients on food labels. This is a really good resource for people in the community.
What's important to me is to be a part of the galactosemia community and know I'm not alone in just being able to talk with people. I feel like I don't have to worry so much about my diet or the way that I talk. It just is really good to have that kind of glue that connects us together. I'm glad to be able to do things like this for AllStripes and make sure that people don't feel like they're alone.
