Your Healthy Family

May 17, 2013 9:48 AM by Marissa Torres

Pueblo toddler battling rare genetic disorder

At 2 years old, Makenzy Belcher has experienced more than many people will go through in a lifetime. Diagnosed with a rare genetic disorder that affects just 500 people worldwide, it's been an uphill battle for the toddler and her parents.

Looking at the Pueblo toddler, you would never guess something was wrong.

"She's really happy all of the time, and that's what makes ya keep going." says father Jason.

Makenzy is battling a rare genetic disorder called Glut1-- Glucose Transporter Type 1 Deficiency Syndrome.
Because of it, glucose isn't transported properly to the brain, leaving it starving for energy it needs to grow and function. At nine months old, Makenzy had her first seizure-- a common side effect of Glut1. It took a full year until doctors knew exactly what was wrong.

"October 18th, we went to the doctor, he said I just got the results today, she has something called Glut1. We don't know a lot about it, we know this. But we know the diet is the best treatment," recalls Terri Belcher, Makenzy's mother.

Makenzy was immediately put on a Ketogenic diet. It's a high fat, moderate protein and low carb diet that forces the body to produce and burn Ketones for energy in place of glucose.

While there's no cure for Glut1, the diet helps alleviate symptoms and has stopped Makenzy's seizures. Just days after the toddler hit a major milestone, Terri Belcher said this.

"Last three weeks, she started sitting up on her own, great, she'll be tow on Sunday. We're still way behind and still have no idea where that goes."

Like other Glut1 patients, Makenzy is delayed in her development. She doesn't speak or crawl, and is mainly fed through a tube in her stomach.

"The little things in life that we all take for granted everyday, is what we want for Makenzy."

The family is currently in Texas, visiting with one of three Glut1 specialists in the country, hoping for answers.

If you'd like to learn more about Glut1, there are resources available, including with the Glut1 Deficiency Foundation.



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