If you are a new grandparent or parent here is something you should know. Beginning October 1, 2013 a new law went into effect requiring The Department of Public Health to begin screening all newborns delivered in Connecticut for ALD, Adrenoleukodystrophy. ALD is a disorder that attacks the central nervous system.
This disorder can be devastating and there is little talk about it until it is too late. Approximately one-third of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a coma like vegetative state.
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. Generally, the disorder appears between ages four and eight, although milder forms can occur in adulthood.
Lawmakers heard testimony during the 2013 Legislative session from parents with children diagnosed with ALD. Including, Jean and Dr. Jack Kelly of Branford, whose son Brian has ALD.
Brian’s case was discovered 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. The Kelly’s have devoted their time and efforts to help others who are born with the disorder and have launched a foundation, Brian’s Hope (www.brianshope.org).
When newborn screening became available, they urged state leaders to require it and get the word out. This family and others have been devastated by a disorder that can be detected at birth. 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.
The Newborn Screening Program consists of three components: testing, tracking, and treatment. Specimens are tested at the Department of Public Health (DPH) State Laboratory and all abnormal results are reported to the DPH Tracking Unit who then reports the results to the primary care providers and assures referrals are made to the State funded Regional Treatment Centers.
The aim of this program is to screen all babies born in Connecticut prior to hospital discharge or within the first 4 days of life and the goal is early identification of infants at increased risk for selected metabolic or genetic diseases so that medical treatment can begin as quickly as possible.
For additional information about the Newborn Screening Program or Genetics, contact the state DPH at (860) 920-6628. The technology exists and we would be foolish not to use it. This will ensure that children born with ALD can begin treatment and live nearly symptom free.
Senator Guglielmo represents the 35th district towns of Ashford, Chaplin, Coventry, Eastford, Ellington, Hampton, Pomfret, Stafford, Tolland, Union, Vernon, Willington and Woodstock