Going to bat against a rare metabolic disorder

Andrew's story was included in Canada’s Rare Voices 2023.

_“When I was five years old, the Make-a-Wish Foundation arranged for me to throw out the first pitch at a Blue Jays game. Meeting the players and standing on the field in front of the crowd really started a lasting love for baseball in me. I became mesmerized by the sport. But, of course, I wouldn’t have been there in the first place if I wasn’t very sick.

I was just six months old when my parents noticed that I wasn’t really eating properly. I was vomiting all the time, and I was quite sick in general. They started bringing me to a bunch of different doctors until a referral to a specialist led to a specific type of screening and a long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency diagnosis. It’s a very rare disease, and the main thing about it is that I’m unable to digest fat, but it also comes with a whole bunch of other serious problems including vision loss, muscle issues, and heart issues. The doctors basically told my parents to prepare for me not to make it past four years old. I’m 21 now, and I’m still here.

The summer after I threw out that pitch for the Jays, I told my parents that they needed to sign me up for baseball, and they supported me in that despite the health concerns. By the time I was eight, I was playing rep ball, highly competitive. I was really lucky throughout childhood and high school that my health stayed pretty stable or, when I’d have a crisis, it would be in the off-season. LCHAD is unique from person to person, and I’ve been fortunate.

Day to day, I spend a lot of energy managing my diet. There are a lot of things that I can’t eat, but I’ve found that when I’m careful to get the appropriate amount of protein and electrolytes, especially when I’m exercising, I’m able to mostly live a normal life like anyone else. When I stay on top of my regimen, and when I can avoid things like the flu or a cold, I feel pretty good. But if I do get one of those illnesses, like I did last Christmas, it’s a lot harder for me to recover. I’ve been trying to avoid every little sickness for my whole life.

"I was really lucky throughout childhood and high school that my health stayed pretty stable or, when I’d have a crisis, it would be in the off-season."

The one thing I haven’t been able to control, though, is the vision loss. I used to play second base and left field, but then I started having difficulty seeing the ball, which makes it impossible to field it. So I switched to pitching, figuring a batter at the plate is easier to see than a ball in the sky. But eventually it got so bad that I couldn’t even make out the signals my catcher was giving me. He’d be like, 'Dude, you’re throwing the wrong pitches.' So, we had to come up with a whole different system of signals that I could actually see.

I went on to pitch for the school team at Laurentian University in my first year as a sports psychology student. But then, in university, my LCHAD crises began to grow more frequent. I’ve been hospitalized three times in the last year, missing classes and exams, and it has taken so much out of my body. This season might be the first summer I don’t play baseball. I’ll definitely be coaching, though, using my knowledge, my skills, and my experience on the field to help younger and healthier athletes achieve their full potential.

Sometimes I think that, if it wasn’t for LCHAD, I might have made it to the big league. But there’s always an “if” — if I was a little taller, and a little stronger, or whatever. There’s still a lot of baseball in my future, either way."

Living with a long-chain fatty acid oxidation disorder (LC-FAOD) comes with unique challenges. Staying connected to updated information will help focus your efforts on the best possible care. To learn more about LCHAD, or another type of LC-FAOD, visit FAODinFocus.

{{CTA}}

This content was supported by Ultragenyx. This page was developed by Patient Voice, and the supporter did not influence the final article or editorial themes of this content.