Softball tourney to benefit young child with rare disorder
WILMINGTON — At first blush, Carson Rhodes seems like any other 17-month-old child. He is very active, running around, playing and wanting to be held. But hang out for a few hours and you will realize Carson needs more attention than most children his age.
"We have to give him his medication every four hours," said Jacqualin Rhodes, who moved to Wilmington with her husband, Jacob, and their son about a year ago. Two months after moving to Wilmington, they realized something was wrong with their boy.
"He started having seizures," said Jacqualin. They brought him to Baystate Medical in Springfield, Mass., where Carson received an MRI. Not sure what was going on with him, the clinicians at Baystate referred him to Boston Children's Hospital.
"They are the best in the world," said Jacqualin. "People come from all over the world to bring their children there."
Carson was diagnosed with non-ketotic hyperglycinemia, a rare, genetic, metabolic disorder that results in the buildup of glycine, an amino acid, in the tissues and fluid, especially the cerebral fluid, of the body. NKH, which is also known as glycine encephalopathy, is a terminal condition, and most children born with it usually die within weeks of birth or suffer from severe developmental delays.
Carson has what is called "an attenuated form" of NKH, in that it is not a severe case. However, said Jacqualin, it is still fatal.
"I believe the oldest person living with NKH is in his 40s," she said.
"No parent wants to learn that their child suffers from an incurable disease," states NKH Crusaders, a website designed to raise awareness about the condition. "Because there are less than 500 children living with NKH worldwide, research for a cure is nearly non-existent. We want to change that ... we must change it. Since January, 2010 we have lost over 50 children to NKH. Our families want to do everything possible to ensure that their children have a fighting chance for a normal, healthy life. In order to fulfill this dream we need to fund research for more treatment options for our children."
There is hope for children like Carson though. One of the most promising treatment options is gene therapy, said Jacqualin. Such research is going on at the University of Colorado School of Medicine and the Center for Rare & Neglected Diseases at Notre Dame. But that research requires money, she said.
This weekend, on Aug. 24 and 25, there will be a fundraising event at Living Memorial Park in Brattleboro. The first Carson's Tournament for a Cure is a softball tournament starting at 9 a.m. Teams listed to play include Team Carson, Edward Jones, Gouin Service/Evan's Property Service, Team NHK, Family Matters, Garbage Mafia and Fresh Fades.
"If we raise enough money, we can start gene therapy and maybe Carson won't have to be on medication for the rest of his life," said Jacqualin.
Meanwhile, those who suffer from NKH have to take a variety of medications, including sodium benzoate, which binds to glycine in the body to form hippurate, which is excreted in the urine. This treatment reduces seizures and improves alertness.
Dextromethorphan is commonly used to reduce seizures and improve alertness by binding to receptors in the brain that are over-stimulated in individuals with NKH due to increased glycine levels in the brain. Dextromethorphan binds to the receptors, blocking glutamate from binding to the receptor.
Ketamine is another receptor blocker that is also used. In patients with attenuated NKH, use of dextromethorphan can help with attention and chorea, and if treated early together with benzoate, can improve development and seizures.
To learn more, visit www.nkhcrusaders.com or rarediseases.org. For more information on this weekend's event, visit www.facebook.com/events/661836574331618/?ti=icl.
Bob Audette can be contacted at 802-254-2311, ext. 151, or firstname.lastname@example.org.
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