Unless you’ve experienced something personally, you cannot truly fully understand.
That’s why empathy, listening to understand, and humility are key elements of humanity. Hearing how a policy – or lack thereof – impacted others matters.
I don’t want you to lose a child to a treatable condition in order to understand why Newborn Screening matters. That’s why I’ve been fighting alongside other dedicated advocates to expand it for ten years – so that no one else knows what it’s like to bury a child.
I don’t want you to experience the challenges of having a child with a rare disease that could have been treated, but because you live in the wrong state, you’re out of luck.
There’s nothing you can do because it’s too late.
That’s why I’ve become an expert on the NBS system, and have worked tirelessly to educate other advocates – so that babies live and parents hopefully have less trauma than we did.
I want you to believe me. Believe us. Listen to our stories, our experience, and stand with us. Put aside partisanship and say “this is wrong” because it is.
That’s all.
Today’s news that the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) has been dissolved is a major blow to the rare disease community.
You may not fully understand the severity of the situation, so listen to us. Believe us. Walk alongside us as we try to find a way forward.
The role of this committee was to conduct evidence reviews of conditions and to present a scientific consensus on which conditions met the criteria for addition to a federal list of NBS conditions that states were encouraged to adapt, saving states time and resources on evidence reviews. Saving advocates the pain of having to work on all fifty states to see their condition added.
Advocacy groups spent decades (and millions) to develop the materials, including scientific data. Submission packets were hundreds of pages in length. Getting through evidence review was a major accomplishment for any rare disease.
It wasn’t perfect, but it was a process. I certainly had my criticisms and made them known at public comment periods.
But what we saw from the committee in the past two years was a willingness to listen to us, to make positive changes based on our feedback. A willingness to improve.
And now it doesn’t exist.
Changes at the federal level should rarely be made with a machete, especially when no contingency plans are available. Especially when we are dealing with the lives of children.
Two conditions with approved treatments were supposed to be voted on in May, and the expectation was that both Metachromatic Leukodystrophy and Duchenne Muscular Dystrophy would be added to the RUSP. Devastating diseases whose course could be changed by a diagnosis at birth.
Now it’s up to each state to decide whether or not they want to, or even can, add them.
Children will be born with these conditions whether their state screens for them or not. And it’s this inequity that makes my heart break.
There’s a reason a move was made to create the ACHDNC and the RUSP in 2006: states weren’t screening for the same number of conditions, whether it was lack of resources or lack of desire.
And now we could be headed in that direction once more, especially in states where the legislature is involved in adding conditions and funding the program.
Please believe us. Don’t defend the administration on everything just because of your party affiliation. Your party is not infallible. Your party’s leader is not incapable of making terrible decisions.
Listen to our expertise and experience, join us, so that future families will have hope we weren’t given.
Press releases about this (I will update the list as I find more):
https://rarediseases.org/ceo-statement-on-termination-of-achdnc/
Even So, Joy 
Thank you! Newborn blood tests do so much more than identify a rare invisible health condition in the baby – like my 2 daughters” PKU. The test means we can begin to give the newborn formulas or medicines that prevent pain, suffering and for many, disabilities. Who would knowingly deny that to a baby?
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