JAY — It was a year ago when Chris and Lisa Brochu’s once-active, healthy, 6-year-old son, Josh, was diagnosed with a rare, deadly genetic disease that strikes seemingly healthy young children.

A few months later, the parents learned their happy, 3-year-old daughter, Brooke, also had the disease.

The children have ataxia telangiectasia, or AT, a neuro-degenerative disease that affects one in 40,000 babies. There are only about 500 confirmed cases in the Unites States.

AT is marked by a progressive loss of muscle control, eventual immune system problems, and a strikingly high rate of cancer, especially leukemia and lymphoma.

The kids are usually in wheelchairs by the age of 10, do not survive their teens, and there is no cure, according to the A-T Children’s Project, a nonprofit organization that raises funds for research of the disease and supports families with AT-diagnosed children.

The Brochus, with growing community support, are organizing three fundraising runs and walks in October, with all proceeds to go to the A-T Children’s Project’s research. Donations are tax deductible.

The plans are for a 5-kilometer race, a 20-mile family fun walk and a two-mile walk, all planned for Jay and Livermore Falls. Registration fees are $25 per person, $50 for a family of three and $75 for a family of four or more. Participants who raise the most donations will receive prizes, including Xbox 360 games.

The race and walks will be the backdrop for an entire day of activities for kids and adults.

Highlights include a kids’ costume parade, bounce houses, rock climbing wall, nationally known juggling act Matt and Jason Tardy, gospel singers Kyle and Jody Savage from Journey Home, and 1980s rock band Primeval. The goal is to raise awareness and funds for medical research toward life-improving therapies and a cure for ataxia telangiectasia

To register, make a donation, or learn about the disease, go to the Brochus’ fundraising page, created through the A-T Children’s Project, at www.communityatcp.org/A-Tmaine. For information, call Kim Wick at 487-8085.

Corporate sponsors to date are Verso Paper, Wal-Mart, the law offices of Joyce David & Hanstein in Farmington and Two-Juggling Phenomenon.

Lisa Brochu said Josh now is unable to walk without help, his speech is becoming slowed and slurred, and as a student at Jay Elementary School, he will need constant care. He has a wheelchair and an ed tech is there to assist him during the day, and he is getting occupational, speech and physical therapy.

AT does not affect a child’s intelligence, but as the disease progresses, patients are unable to read because of the lack of eye coordination and can no longer write, according to the organization.

Children with AT appear normal at birth, and the first signs of the disease usually appear during the second year of life.

“AT combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis, immune deficiencies and cancer,” Lisa Brochu said.

“When we read that children with AT are confined to wheelchairs by age 10 and often do not survive their teens, and then we looked at our own children talking and giggling, it began to sink in,” she said.

The children develop a “wobbly” lack of balance at a young age, followed by slurred speech due to a lack of muscle control. They also have recurrent respiratory infections that can become life threatening because of their low immune levels, and treatment is complicated because they also do not respond to typical antibiotic treatments, according to the A-T Children’s Project.

The rarity of the disease puts it at the bottom of the list for federally funded research, and there is no real motivation for funding by large pharmaceutical companies, according to the organization.

Brochu said research funding falls primarily onto the shoulders of the families and friends of the victims.

So far, there has been strong community support, Brochu said. Donations are being made online, a Facebook page is generating interest, community suppers are planned to help with costs not covered by insurance and people are stepping up to volunteer for the October events.

The next planning meeting will be at 6 p.m. Sunday, Sept. 12, at the Androscoggin Bank on Route 4 in Jay and is open to anyone who would like to help.

“Life now is very busy for us, with doctors’ appointments, paperwork and all the new adjustments we are having to make to accommodate Brooke’s and Josh’s changing lives. But we are committed to doing what we can to fund research that will help others who may not know yet that this lurks on their horizon,” Lisa Brochu wrote on the event’s website.

Volunteers and donations are being sought for a day of family fun walks on Oct. 2 in Livermore Falls and Jay to raise money for research for ataxia telangiectasia, or AT, a rare, fatal disease that strikes healthy, young children. The events are being organized by Chris and Lisa Brochu of Jay, the parents of Josh Brochu, 6, and Brooke, 4, who both have been diagnosed with the disease.

For information, visit www.communityatcp.org/A-Tmaine.


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