Connecticut Becomes Second State in Nation to Launch Life Saving ALD Newborn Screening Program

September 1, 2016

2016-08-24 ALD Screening Press Conference Branford Group Photo

(left to right): Patrice and Roger Diebel (grandparents to two boys diagnosed with ALD in Connecticut), Rep. Lonnie Reed, Sen. Len Fasano, Dr. Jafar Razeq the Director of the DPH State Laboratory, former representative Pat Widlitz, Adrienne Manning the DPH NBS Research Scientist, Jeremy and Tara (the parents of baby Brody diagnosed with ALD), former senator Ed Meyer, the Kelley family, Rep. Themis Klarides, Sen. Ted Kennedy, Jr., Rep. Peggy Sayers, Rep. Vin Candelora, Linda Kowalski.

Screening Program Already Successfully Identifying Children with the Disorder in Time for Treatment

Branford – Connecticut is now the second state in the nation to implement a statewide screening program to test all newborns for adrenoleukodystrophy (ALD). The screening program aims to detect the genetic brain disorder in newborns delivered in Connecticut by adding ALD to the list of genetic and metabolic disorders all newborns are required to be screened for under Connecticut State Law.

The ALD test was implemented by the State Public Health Laboratory on July 1, 2016 after a method validation period began in October 2015 following the passage of legislation in 2013 (Public Act 13-242). 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 which will now receive life-changing treatment.

Adrenoluekodystrophy (ALD) affects the tissue lining around the adrenal glands and nerve cells. The disorder comes with different levels of severity, with the most severe form causing very rapid degeneration of the nervous system in young boys. The trait is most common in boys and men, but women suffer as well. In the worst cases, the disorder leads to loss of muscle function that permanently confines patients to wheelchairs. Often, normal development in early childhood is followed by rapid degeneration to a vegetative state. Today the technology exists to detect the disease at birth, so that children born with ALD can begin treatment and live nearly symptom free. An early bone marrow transplant has been shown to treat the disease, but will only have the most positive effect if children are diagnosed before they are symptomatic.

Connecticut’s legislation to implement testing was introduced by Senator Len Fasano (R-North Haven) after learning about the disorder from Jean and Dr. Jack Kelley of Branford. The Kelley’s son Brian was diagnosed with ALD when he was 6 years old. Within six months he lost his mobility, speech, ability to eat, and most of his vision. He remains confined to a wheelchair today. Brian and his parents have devoted themselves to help other people who are born with the disorder and to advocate for increased screening throughout the country.

“We hope this can be Brian’s legacy. By screening all newborns we can save many families from suffering the effects of the disease. 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,” said Jean Kelley, Brian’s mother.

Sam and Autumn Ford, the parents of a male infant that was diagnosed with ALD in Connecticut in January had their older son tested and diagnosed following their infant’s test results. The Ford’s released the following statement: “We are so very thankful that ALD is now part of the newborn screening. It has changed what could have been a terminal diagnosis later on, into a diagnosis where our boys have a chance. Because ALD is a genetic disease, our other little boy (2 years) has been tested and is positive for ALD as well. We would not have had any idea of the chance of him having ALD without his little brother’s screening until it was too late. One newborn screening has saved both of our boys.”

Senator Fasano thanked the Department of Public Health and Governor Malloy for making ALD testing a priority.

“I applaud the Department of Public Health and governor’s office for working hard to launch this life saving program here in Connecticut. Over the many years I have known the Kelley family they have been nothing but inspirational. Their perseverance and strength is what motivated lawmakers to move this idea forward. Their dedication has already resulted in action that has changed the lives of three young boys. Brian has given these families the greatest gift he ever could. He has given them a life that’s nearly symptom free,” said Fasano.

“It is an incredible honor to join forces with Jean and Jack Kelly and their warrior son Brian in the battle to prevent the devastation of ALD from befalling other children,” said Rep. Lonnie Reed (D-Branford). “Brian Kelly appeared to be a totally healthy, rambunctious little boy until a sledding accident at the age of six revealed he had Adrenoleukodystrophy (ALD). Medical intervention came too late for Brian, but the deteriorating gene-linked condition can now be detected and often controlled with interventional therapies by adding ADL to the diseases that are easily tested for in newborns. A bipartisan group of us fought long and hard to get this new law enacted and implemented in Connecticut and there are no words to express how gratifying it is to meet babies who are now being saved because of it.”

“Early identification of ALD means early treatment and fewer consequences for children with the condition and their families,” said Senator Ted Kennedy, Jr. (D-Branford). “Today is a very good day for the State of Connecticut. This new screening program is going to change lives by ensuring that children with ALD are given the treatment they need so that they do not suffer from the most serious consequences of this disease. I am proud to have the chance to stand beside the Kelley Family as we launch this program. Without their tireless advocacy we would not be here today.”

For more information on the Kelley family and their work to raise awareness and help children with ALD, visit their foundation website “Brian’s Hope” (

Photos from today’s press conference can be downloaded from flickr: