Family wants to strike out rare childhood disorder
He was walking at just 10 months. But his “wobbly walking” wasn’t getting any better as he closed in on 2 years old.
His parents, Harry and Kim Devitt, were concerned.
They took Madux to an orthopedist and then to a neurologist. Neither could find anything wrong with the little boy.
Madux later was diagnosed with dystonia, a neurological disorder in which muscle contractions cause twisting and repetitive movements or abnormal postures.
But after a year of medication, the pediatrician didn’t think that’s what was wrong.
An immunologist saw irregularities in Madux’s blood work and diagnosed the boy with Ataxia-telangiectasia, known more simply as A-T, a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls movement and speech.
“It’s so rare they don’t run any tests on it,” Harry said. “They don’t know of it a lot of time because it gets misdiagnosed.”
The Devitts were devastated. Madux, now 3½, is their only child. Both Harry and Kim carry the gene for the disorder, and there’s a one-in-four chance that if they have more children, they could have A-T, too.
“We had plans to have more,” Harry said. “But this was a real shock, and we decided we’re not going to do that.”
Harry and Kim canvassed the Web for information about their son’s rare disorder and stumbled upon the A-T Children’s Project, a non-profit organization founded by a family with two sons with the disorder. The A-T Children’s Project raises money to support research aimed at finding a cure and improving the lives of children with A-T.
The A-T Children’s Project helped the Devitts get in touch with other parents of children with A-T.
“It helped to be able to talk to someone who had some idea of what was going on,” Harry said.
The Devitts wanted to help. They’ve teamed up with the A-T Children’s Project to hold the first-ever Strike Against A-T bowling fund-raiser in Whitewater on Sunday, April 13. They want to raise awareness of the disorder as well as raise money to find a cure.
“We wanted to get people together,” Harry said. “I don’t think I’ve talked to anyone…maybe only a few doctors, who have even heard of (A-T).”
IF YOU GO
What: Strike Against A-T bowling fund-raiser, hosted by the Devitt family.
Where: Hawk Bowl, 1398 W. Main St., Whitewater.
When: 12:30-4 p.m., Sunday, April 13; registration at noon .
Information: Call Harry and Kim Devitt at (608) 295-3093 or e-mail them at firstname.lastname@example.org.
JUST THE FACTS
What is Ataxia-telangiectasia? A-T is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls movement and speech.
What are the first signs of A-T? Children with A-T appear normal at birth, and the first signs of the disease usually appear before age 2. These usually are a lack of balance and slurred speech.
What is ataxia? It is the progressive degeneration of the cerebellum that gradually leads to a lack of muscle control and eventually confines the child to a wheelchair. As the ataxia gets worse, it is difficult for children to read, write and speak.
What is telangiectasia? Telangiectasia, or tiny red “spider” veins, appear in the corners of the eyes or on the surface of the ears and cheeks.
What else happens with A-T? Most children with A-T lack the natural infection-fighting agents in the blood, making them highly susceptible to infections. Children with A-T also are almost 1,000 times more predisposed to cancer, most commonly lymphoma and leukemia.
How rare is A-T? A-T occurs in an estimated 1 in 40,000 births, but because it often is misdiagnosed, the disorder might be much more common.
Is there a cure for A-T? There is no cure and no way to slow the progression of the disorder. Treatments are directed toward alleviating some symptoms.
What is the prognosis for a child with A-T? If they don’t develop cancer, most children with A-T are dependent on wheelchairs by age 10. Children with A-T usually die from respiratory failure or cancer by their teens or early 20s.
Source: The A-T Children’s Project, www.atcp.org
Last updated: 9:00 pm Thursday, December 13, 2012