A mom from Connecticut and one from New York are working together to expand newborn screenings to include Adrenoleukodystrophy or ALD, a rare genetic disease that affects the brain. Jean Kelley's son was diagnosed with ALD after he had MRI and says strides have been made here in Connecticut.
Elisa Seeger got Aidan's Law, named for her son, passed in New York a year ago. When Aidan was 6, he began having vision problems, it wasn't until an MRI was done that his parents discovered Aidan had ALD.
If ALD is diagnosed before symptoms show, a patient can be treated with a stem cell transplant to stop the progression of the disease. The screenings will be done in Connecticut under a law signed by the Governor in June. Kelley will be working with the state Department of Public Health soon on implementation.
Her son had a bone marrow transplant, but he is in a wheelchair and can't see or speak.
It's been one year since New York passed 'Aidan's Law' a newborn screening program for ALD. The law was named after the 7-year old, who died in 2012.
The moms say the cost of screening each child for ALD is minimal, while the cost of misdiagnosing one child can run into the millions.
Since the New York legislation was enacted on December 30th, 2013, three infants in the state have been identified with the rare disease and 1 was identified as having a related disorder. ALD is estimated to affect one in 17,000 people worldwide and most severely affects boys.