HARTFORD, CT - Governor Dannel P. Malloy on Friday joined with a group of legislators and public health advocates for the ceremonial signing of legislation (Public Act 13-242 – “An Act Concerning Newborn Screening For Adrenoleukodystrophy”) that requires Connecticut health care institutions to screen newborns in their care for adrenoleukodystrophy (ALD), a rare, but potentially fatal, genetic disorder that affects the central nervous system and causes a range of neurological, physical, and behavioral symptoms.
“Because ALD is often misdiagnosed or missed during the critical period of early onset, news of a loved one being diagnosed with ALD comes as a jarring surprise for families, usually when it’s too late to effectively combat the symptoms of this devastating disease. The legislation I am signing today ensures this will no longer be the case in Connecticut,” said Governor Malloy. “Early identification and treatment of ALD will give children born with the disease a fighting chance to beat or significantly delay the most severe and life threatening symptoms so they can lead a happy, normal and full life.”
Approximately 1 in 20,000 people are diagnosed with ALD, which is passed from parents to children as an X-linked genetic trait. Although females can be genetic carriers of ALD, the disease predominantly affects middle childhood and adult males. ALD can take several forms that vary widely in their severity and progression. The most common and severe form of the disease, Childhood ALD, presents in males between ages four and eight and, without early detection and treatment, causes rapid degeneration of their nervous system. The relentless progression of Childhood ALD leads to either permanent disability or death, usually within 2 to 5 years from onset.
Although there is no cure for ALD, several treatments, including eating a diet low in very-long-chain fatty acids combined with Lorenzo’s oil and bone transplantation have been shown to lower the blood levels of these fatty acids. Treatments are most effective before the onset of symptoms and early detection of the disease may help affected individuals to seek treatment sooner, thereby possibly delaying the onset and progression of symptoms.
“ALD is a rare but potentially devastating disease caused by a genetic disorder that impacts one in every 20,000, and can affect people at different stages of life,” said DPH Commissioner Dr. Jewel Mullen. “This law will serve to identify newborns who are at risk for developing this disease, and direct parents of identified infants to treatment and counseling services that will help prolong and improve the quality of their children’s lives.”
Many cases of ALD are missed or misdiagnosed because diagnosing the disease in childhood can be challenging because its earliest symptoms, such as behavioral problems, withdrawal, difficulty concentrating and poor school performance, can be mistaken for a number of more common and milder developmental and behavioral disorders like attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD). The symptoms will gradually grow worse, including blindness and deafness, seizures, loss of muscle control, and dementia.
State Senator Len Fasano (R-North Haven) introduced the bill at the urging of Jean and Dr. Jack Kelley of Branford, who founded Brian’s Hope, an organization dedicated to promoting awareness of ALD after their son Brian was diagnosed with ALD.
“More than anything else, I have been personally inspired by this family’s selfless commitment to help others avoid the hardships that Brian has had to endure,” Sen. Fasano said. “They convinced me that this is good public policy which will save lives and help those born with ALD to avoid the most severe symptoms of the disease.”
Existing state law requires that all newborns delivered in Connecticut be screened prior to hospital discharge or within the first four days of life for a number of selected genetic and metabolic disorders included in the state Department of Public Health's (DPH) Newborn Screening Program. Prior to the new law, ALD was not included in the group of diseases newborns are tested for in Connecticut. Effective October 1, 2013, Public Act 13-242 adds ALD testing to DPH’s Newborn Screening Program, making it a requirement for health care institutions to perform the tests, unless, as allowed by law, an infant’s parents object on religious grounds.
“I’m so thankful to the Kelly family for sharing their personal experience in dealing with the consequences of this devastating disease, which has afflicted their son Brian,” said Rep. Pat Widlitz (D-Guilford, Branford). “This legislation will require testing of newborns and hopefully spare future generations of children from needless suffering.”
Connecticut is one of the first states to pass a law mandating newborn screening for ALD. Newborn screening for ALD is performed on a state-by-state basis and relatively inexpensive at a cost of about $1.50-2.00 per test. Infants with abnormal screening results are referred to designated State Regional Treatment Centers for more comprehensive testing and treatment.