ROCHESTER, N.Y. (WROC) — Laura Colby, a 30-year-old woman from Fairport, is living with a rare metabolic disorder called Maple Syrup Urine Disease, or MSUD for short. It’s something she was diagnosed with at birth.
“I just wasn’t consuming any formula. Or even milk, nothing, and it was becoming very deadly,” Laura said.
As the name suggests, MSUD is an inherited disease that makes urine smell sweet.
It means there’s a defect in three enzymes that help the body break down protein from food.
“With this disorder I have a very weak immune system. So that is very impactful to my life,” Laura explained.
Researchers have found the disease affects one out of every 150,000 babies born worldwide. It usually requires immediate intervention, or the disease can become deadly. That’s why Laura says she now needs to make a six hour trip to the University of Pittsburgh Medical Center every time she gets sick to see a specialist.
“And my parents and everybody found my clinic in Pennsylvania, and reached out to Dr. Morton, who’s my original doctor who saved my life, and he told us to get down there right away,” Laura said.
But on occasion, Laura said she doesn’t always remember the trips.
“It basically becomes a neurological thing where it can start messing with my brain – and if you don’t react right away it can leave long term damage.”
In search of a living donor, Laura said she and her family have had a lot of close calls, but over the last three years, she said she hasn’t gotten very far.
She’s taken her pleas to social media, where she hopes someone will step-up and donate a portion of their liver.
“I won’t know who they are, but if it is a match, and we schedule the surgery, I very very much appreciate anyone registering,” she said. “And trying to help me move forward with my life, get married, start a family, and get a house.”
Those looking to help can register here.