<![CDATA[ALD Alliance

<![CDATA[ALD Alliance - Blog]]>Wed, 06 May 2026 21:56:30 -0700EditMySite<![CDATA[The Future of Newborn Screening in the U.S.A.]]>Tue, 21 May 2024 16:08:07 GMThttps://www.aldalliance.org/blog/the-future-of-newborn-screening-in-the-usa

As many of you already know, our mission is to advocate for ALD newborn screening & newborn screening for any disease with both a treatment and a newborn screening test that works.

This foundation's advocacy is always occurring on two levels: in the states and at the federal level. We don't want to live in a country where a zip code or state line could be the difference between life or death for a child. And we know you don't either.

Last year, our federal government decided to sponsor a study (with the support of the Chan Zuckerberg Initiative) to examine the current newborn screening landscape. A committee was formed through The National Academies of Sciences, Engineering, and Medicine (NAS) to hold meetings this year and ultimately make recommendations for the future of newborn screening in our country.

There are no patient representatives on the committee. However, there is a survey that we would encourage all of you to participate in that will allow us to give input and share our personal experience. The survey will take 10-15 minutes to complete and the deadline is Sunday.

Through multiple channels, including this survey, we have voiced the following concerns:

Every state works differently with respect to adding a new disease to its newborn screening panel, but in any state, it is a lengthy process. Many states will only consider adding a disease that has been approved by the Recommended Uniform Screening Panel (RUSP). We support the notion of a federal committee that reviews diseases, but not the way it is currently operating.

The RUSP committee typically only meets two or three times per year. The process to nominate a disease falls on the shoulders of small foundations like ours. Many of the current requirements are unnecessary, such as finding a state that will run a pilot program first (a newborn screening test can be developed with de-identified dried blood spot cards from previous testing). There is little to no guidance offered to the nominators, and small foundations do not have the financial resources to sponsor state pilot studies or sponsor researchers to help with test development. The notion of a RUSP is important but the committee that it operates under is currently underperforming and not keeping pace with the current rate of FDA approved therapies for rare diseases.

A valid newborn screening test and valid treatment may exist for a disease, but it often takes up to 10 years for that condition to be screened for in all 50 states once being added to the Recommended Uniform Screening Panel (RUSP). During that decade, advocates are forced to repeat the process 50 times if they hope to save babies from their disease. Children are dying during this delay.

Newborn screening can only save lives if RUSP approved diseases are added ASAP to state programs. The majority of our country's newborn screening programs want to expand, but are unable due to lack of funding. Federal funds are needed so that when a disease is added to the RUSP, ALL states have the ability to add the disease as soon as possible. Our foundation has been advocating to streamline this process since 2019.

The members of the NAS committee have discussed the idea of shifting to a two-tiered newborn screening program. Instead of newborn screening automatically being performed, parents would be asked to "opt in" to be screened for diseases that have the possibility of presenting later in a child's life. To be clear, there is no federal effort for public education regarding newborn screening. We are concerned about the number of babies that will be missed due to lack of knowledge about newborn screening, potential barriers for parents understanding the implications of the program, not to mention the emotional state of parents immediately after giving birth to a child.

Lastly, another issue regarding consent has the potential to collapse the future of newborn screening. Despite its 60+ year history of performing as one of the most successful public health programs in our country, a handful of citizens have recently sued their state governments for not immediately destroying their child's dried blood spot cards after their child was screened. What they do not realize, or choose to ignore, is that those cards are de-identified after screening and stored for use to help develop tests to screen for more diseases. They are irreplaceable for newborn screening research and therefore our ability to save lives with this program.

Our recommendations:

1. Create more accountability for the Recommended Uniform Screening Panel (RUSP) by providing more guidance to patient groups that nominate a disease and include the patient voice throughout the process.

2. Remove the requirement that a pilot study be performed for RUSP approval. Multiple studies have proven that this is not necessary to develop an accurate newborn screening test, so long as de-identified dried blood spot cards are available for test development.

3. Federal funds are needed so that when a disease is added to the RUSP, ALL states have the ability to add the condition within 3 years. The funding could be provided directly to state programs or through a grant process, so long as proper guidance is provided. This process must be streamlined to ensure our newborn screening programs have everything they need to keep pace with FDA-approved treatments and therapies for rare diseases.

4. Adopt an "opt out" approach for current concerns surrounding consent. If parents do not want their baby screened, they must contact the state to opt out. If parents do not want their baby's dried blood spot card to be de-identified for use to develop new life-saving screening, they must contact the state to let it be known. We feel very strongly that the burden in these rare instances should be placed on those parents instead of putting other children's lives at risk.

We offer our recommendations to you with the hope that you too can envision a country where all of our babies are screened in an equitable way. We respect any other viewpoints you have to include based off your own journeys that led you to the ALD community and this organization.

Thank you for taking the time to complete the survey. Again, the deadline is this Sunday, May 26, 2024.

SURVEY

]]><![CDATA[Ten Years of ALD Newborn Screening in New York]]>Sat, 30 Dec 2023 16:52:56 GMThttps://www.aldalliance.org/blog/ten-years-of-ald-newborn-screening-in-new-york

Today we celebrate the 10th anniversary of ALD newborn screening in New York. New York was the first state to implement the test following Aidan's Law which had passed earlier that year thanks to the Seeger Family’s persistence (which included eleven months of petitioning, countless emails and phone calls, and 40 meetings in one day in Albany). Our hero Aidan, a beautiful blue-eyed Brooklyn boy who enjoyed soccer and chess, lives on not only in the hearts of those who loved him but the lives his legacy has saved through this foundation's mission.

“I knew you were a miracle from the second I looked at your beautiful little face and you are an angel for so many boys that will be born after you with this dreaded disease. For the time I have left here, I will continue to help all the boys and families with ALD and try to make a difference in their lives.”

-Elisa Seeger, Founder, ALD Alliance, on the passing of Aidan’s Law
March 29, 2013

Within the first month of the implementation of ALD newborn screening in New York, three boys were diagnosed with ALD and 1 girl was diagnosed with a different peroxisomal disorder that would not have been picked up without the screening. Fast forward to today and more than 2.2 million babies have been screened with 157 babies having been diagnosed. Those children are now receiving the life saving monitoring and/or treatment needed to grow up and live their best possible lives.

One of those boys, Conner Hess, was diagnosed with cerebral ALD last year after being diagnosed with ALD at birth through Aidan’s Law. His mother, Richelle, shared her thoughts with us on this newborn screening milestone following Conner's treatment:

"One year ago instead of counting down the days until Christmas and feeling the excitement of the holidays, we were scared and nervous with the news of Conner, our then five year old loving, caring and bubbly boy had developed Cerebral Ald. We knew that one day one of his MRIs might give the dreadful news but actually getting news no mental preparation could ease. The terrifying thought of, "what if he doesn't have a match, what do we do?" God heard our worries and gave us the most wonderful news of the FDA approving gene therapy. From the moment of being introduced to the horror of ALD from newborn screening we had heard of gene therapy being in the "works". Never had it ever crossed my mind that it would come at the most perfect timing for my son. So many "what ifs" ran through my mind last Christmas. Especially the what if this is the last Christmas we will ever celebrate with Conner or the last one with him being a healthy, beautiful cognitive boy. This Christmas after his gene therapy transplant, not only can we just count down the days until Christmas but enjoy everyday knowing that Conner has a future and a bright one at that. He was given the gift of life and there is no greater gift than that. We are forever grateful and in debt to everyone that has contributed to saving him, which all started with newborn screening."

-Richelle Brooks, Conner’s mom
December 18, 2023

Conner having fun at his school’s circus last month.

As a new year begins, we are looking ahead as much as we are reflecting back. This is our wish for all our rare children - a bright future made possible through newborn screening. Thirty-nine states are now screening babies for ALD, but NOT ONE STATE is screening for all diseases on the federally recommended screening panel (RUSP). We will continue to push forward at both the state and federal level until our country’s newborn screening system is an equitable one that can keep pace with current treatment and therapies. We have more exciting projects to announce in the new year. Thank you to everyone who has been along for the ride. Here’s to the accomplishments to come in 2024!

]]><![CDATA[What Newborn Screening Programs & Labs Really Need This September]]>Mon, 28 Aug 2023 17:02:19 GMThttps://www.aldalliance.org/blog/what-newborn-screening-programs-labs-really-need-this-september

In just a few days we'll be celebrating another Newborn Screening Awareness Month. As we do every year, the ALD Alliance will be providing daily posts highlighting the importance of newborn screening, one of our country's greatest public health programs. We put a twist on our awareness campaign this year and thought some truths we shared during public comment earlier this month would be the best way to preview that.

Until September 1st, check out our founder Elisa Seeger's most recent testimony that was given just a few weeks ago at the federal Advisory Committee on Heritable Disorders in Newborns and Children. RUSP alignment, or eradicating death by zip code, can only be achieved once a steady stream of federal funding is in place for our state labs. We will not stop making noise until these employees have what they need to get the job done.

"Dear Chairman Calonge and members of the Advisory Committee for Heritable Disorders in Newborns and Children,

Thank you for the opportunity to provide public comment. My name is Elisa Seeger and I am the founder of the ALD Alliance. Newborn screening advocacy and education are at the core of our mission, along with providing support to families affected by ALD - a disease that is not equally screened for in our country due to the disparities that exist in our country today.

I would like to draw attention to the advocacy work that our coalition has been doing to end “Death by Zip Code.” As many of you here know, the state where a baby is born determines which conditions they are screened for, leading to inequalities across the country. To end “Death by Zip Code,” the country must prioritize complete RUSP implementation in all 50 states. We have consistently heard from state labs and the countless research done that funding is one of the major barriers to efficiently implementing newborn screening conditions. The CDC, under their Newborn Screening Quality Assurance Program, and HRSA both offered funding opportunities last year through grants intended to help states to build capacity to support implementation of the RUSP conditions.

Today, as this community looks to the future with Duchenne and Krabbe in mind, I implore this committee to allot more of its time and resources to finding ways to fund our country's newborn screening labs. As a foundation that has lobbied tirelessly for the CDC's “Enhancing Disease Detection in Newborns: Building Capacity in Public Health Laboratories” grant, I applaud HRSA for the recent Newborn Screening Propel Grant
opportunity. However, there is a need to adjust this to take into account the birth rate in individual states to correlate with the funding that is available.

One state looking to add MPS II, a condition recently added to the RUSP, estimated a cost of $750,000 to complete implementation. This state received approximately $345,000 - about the same amount that all states were awarded. $120,000 of the $345,000 must be used for the state's follow up program, as per the grant, and cannot be used for implementation - leaving the state left with $225,000, which will only cover 30% of their cost to add the new RUSP approved condition.

We are asking our state labs to do the impossible. What purpose does the RUSP serve if states are not properly funded to add the recommended conditions? Many are so short staffed that they cannot even designate an employee to apply for HRSA and CDC grants. For this reason, I am presenting 3 asks today:

1. Transparency. The CDC has a website dedicated to their grant program that shows the history of the grant, awarded states, amount awarded, AND what the funding will be used for by the state. This allows organizations like ours to help target our advocacy and work with state follow up programs to provide education to their newborn screening follow up programs. We ask that the same be done for the HRSA Propel Grant.

2. Smarter Funding. It is apparent that this new grant opportunity was put together with very little involvement from our country's newborn screening labs. Please include them in the process. $345,000 may be appropriate for some states, but the needs of our labs vary greatly across the country - as does the cost of implementing a new condition.

3. Accessibility. As mentioned previously, many states do not have the resources to devote an employee to grant writing. It may be a skill set that is missing altogether. A one-hour virtual meeting is not enough to prepare a lab to write a grant with personnel that has NO experience writing grants. Grant writing workshops should not only be provided, but incentivized. It is already a difficult notion that labs should have to apply for funding to do their jobs. Let's make it as easy as possible to do so.

We will continue to push for more Federal funding for states and their newborn screening programs and hope that state lab engagement in the newborn screening process continues, as their voice and hard work is vital for ensuring that geography does not dictate life and death for newborns.

I would be happy to help meet at a later date regarding these requests and share our thought process as an organization that has dedicated much of our time building relationships with our state's newborn screening programs - the dedicated individuals that make newborn screening a reality.

Thank you."

]]><![CDATA[Aidan's Ride Brooklyn and a Note About Crossing Bridges]]>Fri, 02 Jun 2023 16:36:28 GMThttps://www.aldalliance.org/blog/aidans-ride-brooklyn-and-a-note-about-crossing-bridges

The first time I heard Aidan's name was on my son's 13th day of life. It was the day after we received my son's diagnosis of adrenoleukodystrophy (ALD) through New York's newborn screening program. A nurse practitioner that specializes in genetics sat across from our new family of three in a prominent NYC hospital. She shared a LOT of information with us. What this disease was. How to spell it. What it meant. What it could mean. What my son's monitoring schedule would look like. Current research. I would be lying if I said I remembered it all. But what I do remember - crystal clear - is her telling me the reason ALD was on the newborn screening panel. Aidan's mom. "She's actually right across the bridge from you in Brooklyn," she said. Hearing her name and knowing her story is what gave me hope. I was given the gift of knowledge of this disease before it had the potential to rob me of my only child.

It took me two and a half years to work up the courage to cross that bridge. The actual journey was about ten miles, but for the soul of a mother searching for months to find the right words to say "thank you" - it felt endless. I arrived at Aidan's Ride exactly five years ago and got to meet Elisa and the Seeger family. We hugged and cried, but we laughed too. Elisa's passion for fighting for what is right is extraordinarily contagious - so as you might imagine, I've crossed that bridge quite a few times since then. And now, we're crossing many others together.

And it's not just us. It's an entire community that took ten years to build. Crossing bridges for what is right: a country where every baby has equal access to newborn screening and the medical monitoring that follows a diagnosis at birth. Family members are crossing bridges to testify on behalf of loved ones who died from this awful disease. Our clinicians are crossing bridges to do the same and speak at medical conferences to educate others about standards of care. Biological specimens such as blood and saliva from patients are crossing not just bridges - but the entire globe - so researchers can learn more about this disease and find better treatment options. Artists and riders are crossing bridges to bring Aidan's legacy and our mission to every corner of the continent.

Thirty-six states are now screening babies for ALD. Fifty states are visible on the horizon, but the broken system still exists. As more newborn screening tests are developed for children that will die or become permanently disabled without equal access, our efforts persist. We're not winding down. We're building up. We're so thankful for everyone that has been along for the ride on this journey. We've accomplished so much and have helped a lot of families and their children along the way. There is so much more to come. If you're within driving distance to Brooklyn, we hope you'll come out to support and have a good time. And if you've just been diagnosed and are scared to cross that bridge, I promise - it's less scary on the other side. There is so much love waiting for you there.

See you Sunday!!

Miranda
miranda@aldalliance.org

*Note this event is FREE for ALD families* No motorcycle required :)

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