Every few minutes, Jean Kelley touches her son's shoulder or knee as she speaks directly to him.
"In your very quiet way, you make a big impact, Brian," says this Branford mom as her 24-year-old turns his head and moves his eyes. She's sure he can hear her, but Brian cannot speak and is confined to a wheelchair due to a rare disease called adrenoleukodystrophy, or ALD, which robbed him of his neurological function when he was a small boy.
But his mother believes he would have had a normal life had he been diagnosed with this hereditary affliction earlier, and she is now on a passion-filled mission to instate newborn screening for ALD in Connecticut hospitals.
"If another family and another little boy doesn't have to endure the challenges that Brian has, that will be wonderful," says Kelley tearfully, as she remembers her son skiing on black diamond trails and rollerblading with his brother and sister. "Brian was a typical 6-year-old."
But all of that changed quickly after a sledding accident when doctors discovered he suffered from ALD, a condition that affects one in 17,000 young boys missing an enzyme, eventually leading to the destruction of the body's myelin, which protects the nervous system.
Brian had a bone-marrow transplant but he was already symptomatic, and his disease continued its devastating progression.
"It's all about early detection," says Kelley, who is trying to get a bill passed that would require hospitals to include a new test for ALD in an already existing screen of about 40 diseases, such as cystic fibrosis. This "heel stick" occurs within the first two days of an infant's life.
"If a child is diagnosed, they would begin taking Lorenzo's Oil at about 18 months," explains Kelley, referencing a controversial mixture of amino acid and enzymes made famous by a 1993 movie. The oil is not FDA-approved but thought by many to be an effective treatment. "They would also be monitored every six months by MRI." She has been shaking hands, meeting politicians, doing anything, to gather support.
"Brian and the Kelleys have touched everybody's lives in our community," says organizer Stephen Burke of the Branford Lions Club, who suggested the inclusion of the non-profit organization in the event. "In truth, there wasn't a second choice."
The bill just passed through Appropriations and is headed to the Senate. Kelley desperately hopes it will become law as soon as June and that babies will begin to be tested early next year. For now, she will continue pushing for change as she listens to Red Sox games on the radio while painting with her son, her hand on his hand.
"We're kind of symbiotic," she says, smiling at the young man who fills her heart with pride. "Brian is brave, and Brian carries me."
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