Health Check: Ataxia-Telangiectasia

Making a basketball shot is a pretty big deal for 7-year-old Zach McMillan.

He was diagnosed with a rare genetic disease when he was three.

"They said he has Ataxia Telangiectasia. I said, 'Could you spell it?'" Zach's mom said.

Ataxia Telangiectasia or A-T causes a progressive loss of muscle control and immune system problems.

Cathy and Tim Martin noticed their son, Andrew, had trouble walking.

"It was a little bit harder for him to walk but in every other way, everything else was normal," Tim Martin said.

It wasn't until Andrew was four years old that an eye doctor figured it out.

"And when the doctor examined Andrew he was able to see the telangiectasias, which are the red spidery vein. It makes him look like he has allergies and when they did that, they put that together combined with respiratory information he had and realized what it was" Cathy Martin said.

For Zach, it was test after test.

"They did MRIs and it was just my gut was telling me something's off. So we went through all these tests, nothing. I kind of gave up for a little bit, but then something told me just something's off," Zach's mom said.

Zach is still able to walk, mostly on his own and sometimes with the help of a walker. He tires easily.

Andrew is still able to walk, but on a limited basis and usually gets around in his wheelchair.

Both Andrew and Zach are at high risk for cancer because of their disease. Their parents, who take part in the AT children's project, remain hopeful.

"And they do an extraordinary job raising money for research and funding the AT clinical center at Johns Hopkins," Cathy Martin said.

The McMillans and Martins have organized what they're calling a family fun run.

The "Doughboy Dash" takes place Sunday at Iggy's Doughboys and Chowderhouse in Warwick.