ONCE UPON A GENE - Episode 111 - The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger
Elisa Seeger lost her son Aidan as a result of Adrenoleukodystrophy (ALD) disease. As she was sitting next to his hospital bed researching this awful disease, she learned of a newborn screening test for ALD which wasn't being utilized. Since Aidan has passed away, Elisa has been determined to ensure the ALD newborn screening test is used in every state. Thanks to her advocacy, New York and 24 other states are now testing. Now her efforts extend beyond ALD and she's working to get all diseases with a viable treatment available to be on newborn screening tests across the country.
EPISODE HIGHLIGHTS
Can you tell us about Aidan?
Aidan was born in 2004, perfectly healthy, giant blue eyes, full of life, and we had no reason to believe anything was wrong with him. He was walking at 10 months old, did well in school and played sports. In first grade, he started having some vision problems which prompted a diagnostic odyssey going from ophthalmologists to pediatric ophthalmologist to retina specialists and back to his pediatrician who recommended we see a neurologist. The neurologist didn't think anything was wrong, but ordered an MRI, and when the results of the MRI came back, Aidan was diagnosed with Adrenoleukodystrophy (ALD). ALD is an X-linked inherited metabolic condition, which most severely affects boys and men. Aidan was diagnosed with a cerebral form of ALD, which is the most severe. We began our mission to try to save his life, but he lost his life on April 29, of 2012.
Where is the gap of having a screening test for ALD and the fact that not one state in the country was using it on newborns?
That's what I've been working on and putting all of my efforts into. There are currently four conditions on the federal recommended uniform screening panel that are not being screened for nationwide. Those include MPS-1, Pompe, ALD and SMA. I've realized the primary reason why states don’t move forward is because they don't have the funding to do so. There are currently only 17 states testing for all the conditions. My efforts have been focused on trying to get appropriations from the federal government to go directly to the states so this problem can be fixed. We're asking for $15 million a year for every state to become Recommended Uniform Screening Panel (RUSP) compliant by 2025.
How has leading this crusade helped in the grieving process?
I'm grateful to have so many families in my life that I've met along the way and I feel they've all been touched by Aidan.
How can people help in these efforts and what can they do in their own states?
If anyone is interested, please reach out to me and I can share a one pager that explains what we're doing and where all the states stand. I need all the help I can get.
What has been a moment in your work over the last several years that's made you feel the closest to Aidan's memory?
The signing of his law which was 11 months to the day of his passing and was very spiritual for me. I know he had his hand in that. I get frustrated at times, but little signs from Aidan keep me going.
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