Like most families, life at the Tuminello house is often busy with school, sports and fun, but it’s not the life we expected either. The birth of our first child was met with excitement and high hopes for the future, but that was quickly dashed away when our son Ty started missing all milestones around 4-5 months old, and couldn’t gain any weight. As a first-time mom, I expected a routine pediatrician appointment at six months to go something like, “Don’t worry, all babies have different timelines for meeting their milestones…” However, that is not at all what happened.

Instead, I watched the pediatrician take Ty through a series of mostly physical tests, and when he finally finished, he said, “I am extremely concerned about Ty, and I’d like for you to see a neurologist to get a brain MRI.” I’ll be honest—I fell apart. When I called my husband, Grant, I could barely get the words out to tell him what had happened at the appointment. Our lives were changed forever.

The next couple of months were full of appointments, every test imaginable… and waiting for results. We informed friends and family of what was happening, asked for prayers, and waited some more. At first, it was thought that Ty may have had cerebral palsy after a difficult delivery, but with blood tests showing almost all values were extremely off, it seemed more likely to be a general mitochondrial disease. I remember praying for something rare but treatable.

More tests and more waiting—until one day, we received a call. They knew what Ty had. It was GAMT, and it was treatable! Wait, what? Why isn’t this on newborn screening?

Fast forward to today—after years of every therapy imaginable, and even some therapies still today—Ty is a senior in high school. He has maintained an excellent GPA, joined the track and field team, snowboards, goes fishing, and loves all things sports. It has not been an easy journey, but we are extremely proud of the ambitious young man he has become and grateful for a somewhat early diagnosis at just 10 months old. We know not all are so lucky, and their journey to a diagnosis sometimes lasts years—all the while, unrecoverable brain damage is being done.

Then there’s Paige, Ty’s younger sister, who also has GAMT but was diagnosed and treated immediately. She’s a typical teenage girl with a very bright future ahead of her. She has never had a day of therapy, and she knows that Ty “took one for Team Tuminello” by being one of the first diagnosed with GAMT in the country and even around the world.

Their treatment is difficult—almost 100 pills a day and constant monitoring of a neurotoxin. We can do better. By supporting research, we can find a treatment for GAMT that is better at lowering neurotoxic GAA, better at keeping creatine levels regulated throughout the day, and that doesn’t come in 100 capsules. We can do this together!