Since Jean and Dr. Jack Kelley’s son Brian was diagnosed with adrenoleukodystrophy at the age of six, the parents have advocated for a statewide screening program to test all newborns for the disorder in the hope of saving another boy’s life.
Three years after a bill mandating ALD be added to the list of genetic and metabolic disorders for which all newborns are required to be screened passed during the 2013 legislative session, the test has been implemented statewide. A pilot testing program began in 2015 prior to full implementation. Connecticut became the second state in the nation to enact the newborn screening; New York added ALD to its screening panel in March 2013.
Adrenoleukodystrophy, a genetic brain disorder, affects the tissue lining around the adrenal glands and nerve cells, according to a news release. While the disorder varies in its severity, the most serious form causes rapid degeneration of the nervous system in young boys. The disorder can lead to muscle loss that permanently confines patients to wheelchairs. For many children who are diagnosed with ALD, early childhood is followed by rapid degeneration to a vegetative state.
But by detecting the disease at birth, children who are born with ALD are able to begin treatment and live nearly symptom free, the release states. While an early bone marrow transplant has been shown to treat the disease, it will only have the most positive effect if children are diagnosed before they are symptomatic.
“We simply do not want another child to face the challenges that Brian has endured for 21 years,” said Jean Kelley, during a press conference Wednesday at the Branford Fire Department. “This screening is so important because ALD is a sneaky disease. You won’t find it if you aren’t looking for it.”
Brian, 28, lost his mobility, speech, ability to eat and most of his vision within six months of his diagnosis. Today, he is confined to a wheelchair.
“(ALD) is genetic. It is passed by mothers to their children. Over time and unbeknownst to parents, brain function can decline as fat builds up and breaks down the myelin and nerves stop telling the central nervous system what to do,” Jean Kelley said. “Between the ages of 3 and 7, symptoms such as vision, hearing problems, headaches and seizures arise. These issues are often misdiagnosed.”
During the first 48 hours of life, every infant in the United States is tested by newborn screening for a variety of heritable diseases. In some states, newborns are screened for more than 50 diseases. Many states, however, have yet to add all of the available conditions to its screening panels — including ALD.
“By including ALD in the newborn screening and detecting ALD at birth, they are giving these boys a chance at a normal life and saving families of the heartache we have experienced,” Jean Kelley said.
Every 36 hours, an infant is born with ALD — a disease that affects 1 in 17,000 boys. Since Connecticut added ALD to its newborn screening panel, three newborns have tested positive for the disease.
On Jan. 1, Sam and Autumn Ford’s newborn son was diagnosed with ALD in Connecticut. Following their infant’s diagnosis, the Fords had their older son screened for the disorder. He, too, was diagnosed with the disease.
“I woke up one morning and I had an email from Brian’s Hope and it said that (the Fords’) son was identified by the newborn screening. I went into our bedroom, Jack was getting ready for work, and I said ‘We saved one.’ He knew exactly what I meant,” Jean Kelley said.
Since the diagnosis of the Fords’ sons, the family has been relocated to Norfolk, Virginia.
“Had this family moved away before the baby was born — if they had been in Virginia six months earlier — it wouldn’t have turned out this way,” Jean Kelley said.
“Early identification is extremely important. For those who have this disease, they enable the family to monitor the child’s development and intervene,” said Roger Diebel, grandfather of the two boys who tested positive for ALD.
For parents Jeremy and Tara, who withheld their last name, this new law has given them the greatest gift — knowledge.
“As scary and life changing as it is, we are so lucky and blessed to have lived in Connecticut, one of the few states in this country that tests for ALD during newborn screening. Our son was always going to have ALD, but now that we know, knowledge is power,” said Tara, of Monroe.
State Senate Minority Leader Len Fasano, R-North Haven, introduced the piece of legislation after he learned about the disorder from the Kelley family. The bill received bipartisan support.
“When Republicans and Democrats stick together, they can move mountains and more importantly, they can save lives. That is what these legislators did — they saved lives by getting this bill passed,” Fasano said.
While Connecticut has worked toward implementing new laws to ensure children affected by ALD are able to receive the treatment needed to combat the disease, more can be done across the country to guarantee each infant is tested for the disorder at birth.
In March, U.S. Sen. Charles Schumer, D-New York, introduced Senate Bill 2641 and House of Representatives Bill 4692, also known as Aidan’s Law, to require nationwide newborn screening for ALD. Aidan’s Law is named in honor of Aidan Jack Seeger, who lost his battle with ALD just 11 months after his diagnosis. He was 7.
“Perhaps one day we will be able to eradicate this disease. The key to a healthy life for children with ALD is early detection. We are influencing the national trend with our success and the success in New York, and other states are following our lead,” Jean Kelley said.
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By: Sam Norton, New Haven Register