According to Cathy Martin, her son Andrew is just like any other 13-year-old. He plays sports, loves cheering on the Patriots and enjoys almost every subject in school. The only difference is Andrew suffers from the degenerative disease ataxia-telangiectasia, or A-T.Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age five. Affected children typically develop walking difficulties, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus) and disturbances in nerve function (neuropathy).
Diagnosed at age four with the rare genetic disease, Andrew is confined to a wheelchair and suffers from extreme fatigue and body tremors. The degenerative disease affects a large number of systems within the body, early symptoms appearing between ages two and five.
“To say Andrew is more tired [than the average teenager] is an understatement,” said Cathy, explaining that Andrew used to eat only a quarter of his meals before saying he was too tired. It was only four years ago, after the insertion of a g-tube in his stomach, that Andrew was finally able to receive the proper amount of nutrition his body requires to grow.
According to A-T Children’s Project’s (ATCP) website, 70 percent of A-T sufferers have immunodeficiency. As a result, Andrew has had weekly treatments to boost his immune system since kindergarten.
“It has kept him healthier,” said Cathy.
Andrew is in eighth grade at St. Rose of Lima School and receives a lot of support from teachers.
“They have encouraged him to work to his full potential,” said Cathy.
His 11-year-old brother Brendan is also one of his biggest supporters.
“He is very helpful with Andrew, but he also keeps Andrew accountable to what he can do,” said Cathy.
Andrew is also able to take part in the normal activities he loves. An avid sports lover, Andrew has the opportunity to take wheelchair tennis lessons through the Grand Slam Tennis Academy in Warwick and rides therapy horses at a barn in Cranston. He also skis with his father, Tim, and Brendan through the adaptive ski program at Wachusett Mountain.
In the summertime, he will also swim and play golf.
“He won’t play a full round; he gets too tired,” said Cathy. “But he will play a few holes here and there.”
According to ATCP, A-T only affects one in 40,000 children and there is very little research data available regarding the disease.
Currently, there is no cure or treatment to slow the progression; most children require a wheelchair by age 10 and will pass away from either cancer or respiratory failure by their early 20s.
The Martin family is hoping to change that with Iggy’s Doughboy Dash on April 7. The event aims to raise awareness about A-T and funds for research, in honor of Andrew and 7-year-old Zach McMillan, another local boy suffering from A-T.
Along with Zach’s parents Deborah and Robert, Cathy and Tim have organized this event to assist ATCP with their fundraising efforts. To date, ATCP’s funds have helped discover treatments for symptoms, including feeding tubes and immune therapy; the funds have also lead to discoveries regarding the biology of the A-T gene. ATCP believes research for A-T can lead to information about other diseases such as Alzheimer’s, Parkinson’s and cancer.
Iggy’s Doughboys & Chowder House, owned by Martin family friend Dave Gravino, is co-sponsoring the event, which will have participants walking or running just under a mile, attempting to eat a dozen mini doughboys and repeating the mile route back to the starting line.
Online registration for the event is available at www.atcp.org/DoughboyDash, along with more information about A-T. The registration fee is $25 per person, $50 for a family of three and $75 for a family of four. There is also a waiver that needs to be printed out, signed and brought to the event. Sign-ins will begin at 11 a.m. on Sunday, April 7 at Marley’s; the run begins at noon.
Read more here. Written by Jennifer Rodrigues.