A truly rare diagnosis: Newton boy deals with GLUT1
Ringo Tipton of Newton is a normal kid. He likes to play and likes to see his friends. Like so many others, the last few months have been pretty hard on Ringo as he has been riding out shutdowns and social distancing because of COVID-19.
But for Ringo, things have been even more difficult. After going to doctor after doctor because his step-mom Regina Martinez “just knew something was wrong,” Ringo was diagnosed with GLUT1.
It’s a rare, incurable disorder that no one in Ringo’s family had ever heard of before.
“We were in shock and numb state for three days,” Martinez said. “I was trying to read up anything and everything I could find. You can find it if you look it up. But understanding it is a blood-brain barrier disease.”
GLUT1 is a truly rare condition — only 500 cases diagnosed worldwide since the disorder was identified in 1991.
According to the National Institutes of Health, GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. About 90% of those affected have a form of the disorder referred to as common GLUT1 deficiency syndrome. Those affected generally have frequent seizures.
“He is missing chromosomes in his DNA,” Martinez said.
Dealing with GLUT1 meant lifestyle changes for Ringo. Imagine a tween who cannot eat sugar — any sugar.
“He has to use the keto diet,” Martinez said. “He cannot have anything with sugar, everything has to be sugar free. Not only does he have GLUT1, he is allergic to all animal milk. That made it almost ’Oh God, what are we going to do?’ With keto, they like to use cream, milk and fats. You can’t use that. ... We are going to run into roadblocks.“
In addition, Ringo has to be careful about being outside in the sun and physical activity.
No baseball, or other sports. Those things can trigger seizures, or worse.
“If he overexerts himself or gets overheated he can die. ... He can’t do anything,” Martinez said. “He’s 12. He’s a little boy. Sometimes he does not stop himself. ... his episodes can look like a three- to five-hour nap, like epilepsy block sleeping.”
He has been going for treatment to Children’s Mercy Hospital in Overland Park, a three-hour drive away. He spent five days there in January. There they help manage his diet and epilepsy.
Next month the family is headed to Aurora, Colo., a suburb of Denver, to see another doctor.
“She actually deals with other people that have GLUT1,” Martinez said. “She is the closest one we are aware of.”
Martinez said Children’s Mercy has done well, but Ringo is the first child with GLUT1 treated there.
“Our hope is that this appointment will give us a better plan of care,” Martinez said. “Maybe she can give us some highlights of things we can do for him to make his life better.”
With Ringo being sick, COVID-19 sweeping across the nation and other special needs children in the home, 2020 has been difficult for the entire family. Ringo’s father, Brian, has taken as long a leave of absence from work as possible.
And now there is a trip to Colorado, about an eight-hour drive that will result in a new wave of doctor and hospital bills. A GoFundMe page has been established to help with the family’s expenses at https://gf.me/u/ypksms.