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08/26/2016 01:00 PMOn Wednesday, August 24, an emotional Jean Kelley shared a poster-sized photo of a two-year old boy and his baby brother. Earlier this year, both boys were spared a debilitating life sentence usually delivered by Adrenoluekodystrophy (ALD), thanks in large part to the Kelley family's efforts to bring about a new state law mandating newborn screening for ALD. Now, the Kelleys are fighting on to make the screening mandatory nationwide.
The baby in the photo, Shepherd Ford, was born January 1, 2016 and is Connecticut's first infant to have ALD detected due to the new screening. Following a state pilot validation program which got underway in October 2015, mandated screening officially kicked in on July 1, 2016. Today, it's part of Connecticut's State Public Health Laboratory Newborn Screening program, which now looks out for signs of 58 different diseases. The screening takes place within the first 48 hours of life, when babies are given a heel stick and drops of blood are collected on a "blood spot" card to be screened for a number of serious conditions.
Connecticut is only the second state in the country with ALD mandated in newborn panel screening, closely following New York. California will begin testing in 2016.
On August 24, the Kelley family gathered in the community room at Branford Fire Department with state leaders, key medical experts and representatives of grateful families. They were there to celebrate the official implementation of the ALD test statewide, and to share the news that the screening is already saving lives here.
By finding ALD early in Shepherd, additional testing also detected the same genetic brain disorder in his big brother, Ransom. In addition, Connecticut's newborn screening has also detected another male infant with the disorder, as well as a female carrier infant. Females carrying the gene have a 50 percent chance of passing it on. All of these children will now receive life-changing treatment and monitoring to keep them well.
Before technology for early screening existed, boys with ALD were being diagnosed too late. Tragically, boys with undetected ALD appear to be developing normally, until symptoms start to arise. Sadly, once those first symptoms appear, it's too late for medical intervention. But if ALD is detected in advance of symptoms showing, medical treatment and protocols can tamp down an onslaught of devastating complications caused by ALD.
The Kelley family's years of work to raise awareness and funds to battle ALD included establishing the Branford-based Hammerfest Triathlon. Marking it's 20th anniversary on September 18, 2016, Hammerfest has raised almost a million dollars over the last two decades. In 2012, the Kelley family founded non-profit Brian's Hope to further support the mission to stop the progression of ALD.
Now in his early 20's, Brian Kelley was diagnosed with symptoms of ALD at age six. Within six months, he lost his mobility, speech, ability to eat, and most of his vision.
Mobilized by wheelchair (and at Hammerfest, with jogger rides), Brian joins his family at public events and programs to help support the efforts of Brian's Hope.
Brian was with them on August 24 as his dad, Dr. Jack Kelley, took a moment to recognize his youngest son, saying, "Brian's been a tough solider, a hero. He's the reason we do this."
Dr. Kelley also recognized the unwavering efforts of his wife and years of loving support of Brian's two older siblings, Patrick and Kathleen. He also thanked those who have been supporting his family for many years, from the early days following Brian's diagnosis through to ongoing efforts undertaken by Brian's Hope.
Through Brian's Hope, the Kelley family worked with legislators and medical experts to spearhead the 2013 passage of Connecticut's ALD newborn screening law.
On August 24, the Kelley family was joined by state leaders including Senator Len Fasano (R-North Haven), who introduced Connecticut's legislation to implement testing; as well as bi-partisan supporters including Senator Ted Kennedy Jr. (D-Branford), State Representatives Lonnie Reed (D-Branford) and Vincent Candelora (R-North Branford) and former State Senator Ed Meyers (D-Branford) and former State Representative Pat Widlitz (D-Guilford/Branford).
Also joining the group gathered in Branford were key medical proponents Dr. Jafar Razeq, Director of the Department of Public Health (DPH) State Laboratory, and Adrienne Manning, DPH Research Scientist. Both were recognized for providing valid and meaningful science to support adding ALD to the state's newborn screening panel.
Members of two families with children who have been successfully screened for ALD since the law was passed were also among those gathered in Branford on August 24. When Shepherd Ford was screened for ALD, the family was living in Groton (dad Sam Ford was stationed at U.S. Naval Submarine Base New London). This summer, the family moved to Norfolk, VA, following a military transfer. On August 24, Ransom and Shepherd's grandparents, Patrice and Roger Diebel, attended the Branford announcement on behalf of the boys' parents, Sam and Autumn Ford.
As she introduced the Diebels, Jean Kelley recounted receiving an email earlier this year from Sam Ford with his family's good news.
"I went into our bedroom and Jack was getting ready for work, and I said, '...we saved one,'" said Kelley, her voice catching with emotion. Later, she noted, "Had this family moved away before the baby was born -- had they been in Virginia six months earlier -- it wouldn't have turned out this way."
Likewise, things turned out for the best for baby Brody of Monroe, identified in April with ALD thanks to the new screening. His parents, Jeremy and Tara (last name withheld) came to Branford with Brody to be part of the day's milestone announcement.
"I never wanted to stand anywhere talking about how ALD newborn screening impacted my life and changed it forever. But four months ago, we welcomed our second son into the world, and we were happy and excited. And just a few short days later, we got the news that he tested positive for ALD on his newborn screening," said Jeremy. "It was something we wished we never had to hear. But we are very grateful for the diagnosis, because it means everything to us. It's power, it's hope. Our son would still have ALD without the diagnosis, and his prognosis would be much worse. Fortunately (we) have the tools and the resources to effectively change the lives of so many for the better."
Calling Brian Kelley a "giant," Jeremy also thanked "...the boys who came before the testing, who ultimately paid the price for where we are today in saving lives; and (the) families of those boys, who had to deal with the suffering as well as the horror of ALD. Thank you for having the strength and the courage to fight on."
Jeremy also urged other states to "get on board" with newborn screening.
The Kelley family is fighting on, with Brian's Hope currently supporting #SaveTheBoys, an effort to push through U.S. Senate Bill 2641 and U.S. House Bill 4692, also known as Aidan's Law. The law would require nationwide newborn screening for ALD. Links to send emails seeking support from Connecticut's U.S. legislators are available here