Rare Disease Day: Greenbrier Co. family shares battle with GAMT
RONCEVERTE, WV (WVNS) — Guanidinoacetate methyltransferase deficiency, or GAMT, is an inherited disease that primarily affects muscles and the brain.
It’s caused by a mutation that inhibits the body from making its own creatine, which is used by the body to store and use energy.
People with GAMT can have serious health issues including epilepsy, self-injurious behaviors, and weakened muscle tone which can sometimes delay them learning motor skills.
Keedon Holliday turned 18 just a few days ago. He was diagnosed with GAMT when he was 12.
“It’s such a challenge trying to get the proper medical care in this state. He, for example, needs to see a metabolic geneticist, which we don’t currently have in the state of West Virginia,” said Mandi Holliday, Keedon’s mother.
Keedon has been taking supplements since his diagnosis. Every day he takes 30,000 milligrams of both ornithine and creatine.
Holliday told 59News GAMT is entirely treatable and children can live normal lives if the disease is caught at birth.
“He could have started treatment at birth, and he could have lived a normal life, but we have 12 years of epilepsy that’s done so much damage that even starting the supplements, it won’t repair the damage that’s already taken place,” said Holliday.
GAMT was added to the Recommended Uniform Screening Panel last year, but very few states have made it mandatory to screen for or even adopted laws to set the screening in motion.
West Virginia currently does not screen for GAMT, but Holliday is currently advocating for the state to start.
For the latest news, weather, sports, and streaming video, head to WVNS.
