BRANFORD — Connecticut has now joined New York as the only states in the country that require the screening of newborns for a disease that causes rapid degeneration of the nervous system in young boys — Adrenoleukodystrophy (ALD).
The family of the man who was the impetus for the legislature’s passage of a law requiring testing for ALD, John and Jean Kelley, along with current and past state lawmakers and health officials, attended a press conference at the Branford Fire Department on Wednesday to laud the program’s launch.
Brian Kelley, now 27, was diagnosed at age 6 with ALD, which is an adrenal and neurological disorder. Within the next six months, Brian lost the ability to speak, eat, and move around on his own. He also lost most of his vision.
The Kelleys pushed the Public Health Committee in 2013 to support legislation introduced by Sen. Len Fasano, R-North Haven, to make sure ALD was included in newborn screening requirements.
Three years later, after what Department of Public Health research scientist Adrienne Manning described as “a long pilot process of testing,” ALD testing is now a reality.
That pilot process, Manning added, involved testing 27,000 infants. “We feel very confident that the test we will now be using will not only identify infants with ALD but also will identify those also carrying the ALD gene.”
Jean Kelley said she hopes the legislation can be Brian’s legacy.
“By screening all newborns we can save many families from suffering the effects of the disease,” Jean Kelley said. “Treatment will change a child’s entire life. I can’t think of a better way for Brian to leave his mark than for his hard work to help other boys live long and happy lives.”
The ALD test was implemented by the State Public Health Laboratory on July 1. Already, Connecticut’s State Public Health Laboratory Newborn Screening Program has successfully identified two male infants and a male toddler with the disorder, as well as a female carrier infant, all of whom will now receive treatment.
ALD affects the tissue lining around the adrenal glands and nerve cells. The disorder comes with different levels of severity, with the most severe causing very rapid degeneration of the nervous system in young boys. In the worst cases, the disorder leads to loss of muscle function that permanently confines patients to wheelchairs.
The Kelley family has made it their mission to advocate for ALD awareness and testing through their charitable foundation, “Brian’s Hope,” which can be found at brianshope.org
“Our hearts are full of gratitude,” Jean Kelley said. “We simply do not want another child to face the challenges that Brian has carried for 21 years. ALD is a sneaky disease — you won’t find it if you aren’t looking for it. I could finally sleep at night when this law was passed.”
Her husband John Kelley looked over at Brian, who was at the podium with his family and others, and said: “Brian’s been a tough a solider, a hero through this whole ordeal.”
Around one in every 17,000 people is born with ALD. Although women can pass the disease on to their children, the symptoms only manifest in men.
Studies have shown boys can lead typical lives with the disease if it’s detected at birth and treated throughout childhood.
The Kelleys said if screenings had been available when Brian was a newborn, his life would have turned out much different.
Fasano, who was one of John Kelley’s classmates at Yale University, also spoke at a press conference, calling it a “very, very proud day.”
“If you catch it early enough,” Fasano said, “it can save lives.”
Fasano, the Senate minority leader, said the ALD legislation also “demonstrates that when Republicans and Democrats get together, they can move mountains, they can save lives.”
He added that he also wanted to “thank Governor Malloy” for backing the legislation.
Among those in attendance at Wednesday’s press conference were a young married couple from Monroe, and their newborn son, who was recently diagnosed with ALD.
The couple, Jeremy and Tara (they did not want to give their last names), said they were grateful for the advocacy the Kelleys had taken on in fighting for ALD mandatory testing.
“We will forever be grateful,” Tara said. “We feel lucky and blessed to live in the state of Connecticut.”
At one point during the emotional press conference, Jean Kelley told legislators in attendance that she wanted to apologize for being such a constant voice in their ears the past few years about the ALD legislation.
House Minority Leader Themis Klarides, R-Derby, said: “Don’t apologize for your impatience. I didn’t even know about this (ALD) before you brought it to our attention. We want to thank you.”
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