Newborn Screening Saves Lives: A Call to Action

Newborn Screening Awareness Month is a time to remember that newborn screening saves lives. But also a time to take action.

Newborn Screening Saves Lives – A Call to Action

Newborn screening saves lives.
That’s not a slogan.
It’s a call to action.

To save babies.
To educate families.
To alter destinies.
To change generations.
To make history.

That takes everyone.
That takes you.

Share your story.
Let your voice be heard.
Declare to the world…
Screen a baby…
Save a life.

Quote graphic on black background: “Newborn screening saves lives. That’s not a slogan. It’s a call to action.” with pkujournal.com

Why Do We Commemorate Newborn Screening Awareness Month?

I wrote that call to action in my journal a few mornings ago. I keep a daily journal, and use it to explore thoughts and ideas to share with the PKU, newborn screening, and rare disease communities. Often, what I write here and on social media begins in my journal.

And this Newborn Screening Awareness Month I’ve been challenging myself…

Why am I doing this?

I spend a lot of my life, both publicly and privately, thinking about and engaged in newborn screening advocacy. It’s not my profession. But it is my mission in life.

I was given an opportunity to live this life because of newborn screening. And I firmly believe that what I’ve been given should be freely available to all.

That’s the newborn screening standard… Every baby, across the world. Period.

But we are a long way from that goal. Because only 30 percent of babies born in the world receive any form of newborn screening (source: APHL).

Over the years I’ve had countless conversations with people whose life experiences are vastly different than mine. I love it. Being a storyteller allows me to see the world through another person’s perspective. Sometimes, I change my views. Sometimes, I sharpen my perspective. That process, hopefully, makes me a better person.

And by far, the most impactful, life-changing conversations I’ve ever had are with people who have a different newborn screening experience than mine.

Some have children with late-diagnosed PKU.

Some have children with rare diseases not on newborn screening panels.

Others have lost their children.

With conversations like that, all you can do is be quiet, set your advocacy agenda aside, and listen.

And then do something.

Graphic that reads: “Newborn Screening Is A Human Right.” Created by Kevin Alexander to raise awareness for PKU and newborn screening advocacy.

That’s why I no longer say that I “celebrate” Newborn Screening Awareness Month. Is there anything wrong with saying “celebrate”? Of course not. Especially if you are speaking in a community in which people mostly have the same experience… It is a source of joy for many.

But, in my opinion, newborn screening advocacy should be about looking beyond your experience. I have learned so much from my conversations with fierce newborn screening parent advocates who have a different experience, especially those who have lost children. It sharpens my advocacy, teaches me to see the world differently, and reminds me why I fight.

So, I choose to say that I “commemorate” newborn screening.

Does that matter? It does to me. I’m a writer, and choose my words carefully. Because I believe words have incredible power to change hearts and minds… to change lives.

To commemorate means to show respect. To honor.

So, I choose to honor people like Dr. Robert Guthrie, who invented the bloodspot test for newborn screening that saved countless lives and changed a generation.

I honor the Guthrie family, who sacrificed a lot of time with their father while he was out “saving the world”, to use his daughter Patricia’s words. Patricia has a website dedicated to her father called the Robert Guthrie Legacy Project, which I highly recommend that you visit.

And I especially honor any parent whose newborn screening story is a source of pain… Those for whom newborn screening didn’t work. This might be an uncomfortable topic for those of us who have a positive experience with PKU.

But if we want the world to change, we cannot turn away from those in pain. We must help them. And that means being willing to engage in some form of newborn screening advocacy. That begins with recognizing that not everyone shares a positive newborn screening experience.

I just wanted to share these thoughts here to remind us all of why newborn screening advocacy matters (a subject of a previous article submitted by Lesa Brackbill that you can also read here). Below you will find a list of resources for Newborn Screening Awareness Month (and beyond). I hope they help in some way. But first…

Soon I will publish another guest column, and I’m truly honored to share this one.

Since April 2025, when the Committee on Heritable Disorders in Newborns and Children (ACHDNC) in the United States was terminated, I have tried to communicate the urgency of the current moment in newborn screening advocacy.

I have tried to communicate that newborn screening isn’t just a test, but a complex system that needs to be maintained and improved.

But I also recognize that I am merely a communications professional. And I don’t know that my attempts to communicate this urgency have been successful.

I am not an expert on the newborn screening system.

So… I consulted a friend of mine who is.

Update: In October 2025, the American College of Medical Genetics and Genomics (ACMG) announced a coalition to fill the gap left by the absence of the ACHDNC. You can read more about that here.

Joanne Mei, PhD (retired). From 2008-2025, Dr. Mei was the chief of the Newborn Screening Quality Assurance Program (NSQAP) at Centers for Disease Control and Prevention (CDC).
Photo credit: Gabriella Collard.

Dr. Joanne Mei

Dr. Joanne Mei spent 34 years at Centers for Disease Control and Prevention (CDC). From 2008 to 2025 she was the chief of the Newborn Screening Quality Assurance Program (NSQAP) at CDC, and recently retired. She has also served as the Secretary of the International Society of Neonatal Screening (ISNS) and was a recipient of the ISNS/Revvity Guthrie Award. That award is given annually to honor an ISNS member who has made a significant contribution with global impact.

She is an expert on the newborn screening system, both here in the United States and around the world (you can read more about her credentials and experience here).

The views that she will share are her own. They do not represent any governmental agency or non-profit organization. But they are the words of a retired public servant who spent a career serving the global newborn screening system.

And I implore you…

Listen to what she has to say about the status of the newborn screening system. That article is called The Newborn Screening System: A Public Health Legacy.

Newborn screening saves lives.

Again, that’s not a slogan to congratulate ourselves with because it worked for some.

It’s a call to action to make sure that it works for others.

And continues to save lives for generations to come.

Newborn Screening Awareness Resources

I’ve produced a lot of resources over the years for newborn screening awareness. And so I’m gathering many of them below in case you find them helpful to share. These were all produced in pursuit of a mission we all share in the newborn screening community… Newborn screening saves lives.

For Katy film about newborn screening and the power of early diagnosis – PKUJournal

“For Katy”: A Story About Newborn Screening

Newborn screening is a human right. It saves lives. This film, “For Katy” tells the story of a girl born with PKU who did not receive newborn screening at birth. We share the same diagnosis, but have different lives. As long as one child falls through the cracks in the newborn screening system—a system that has saved lives but needs improving—we need to keep fighting, speaking, and showing up for those who need help the most.

Newborn Screening is a Human Right

I wrote this article, “Newborn Screening is a Human Right“, after the termination of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) here in the United States.

Newborn screening respects and honors the dignity of every human being by preventing disability or death. And dignity is the birthright of every human.

In the newborn screening advocacy community, we frequently say “Newborn Screening Saves Lives”. And it does. I’ve used that phrase countless times. And I will continue doing so, but that is only one side of the equation.

Because not every child is saved.

Not every child born in the world receives newborn screening. And even with those that do, many do not receive a diagnosis because their rare disease is not on the screening panel.

So, I am also choosing to say “Newborn Screening Is A Human Right”, because that reminds us of the work that still needs to be done.

Newborn screening began with PKU. But it has grown tremendously. It has evolved into what we call “the newborn screening system”. And as I shared in my story “60 Years of Newborn Screening”…

“We can reflect and be thankful for what the newborn screening system has done. It has changed the lives of a generation.

But we still have much work to do, for those born today… And for generations yet to come.”

PKUJournal story about Dr. Robert Guthrie and the impact of newborn screening

“Call Me Bob”: A Story About Dr Robert Guthrie

Dr. Robert Guthrie is considered the “father of newborn screening”. His groundbreaking work in developing the bloodspot test for newborn screening has saved countless lives and continues to impact the world today. But this story is about the person behind the legend. It’s about a passionate, dedicated person who made choices that changed the world.

Special thanks to the Guthrie family for their insights into their father. I could not have written this episode without their guidance, especially regarding his personal life.

Advocacy is social justice. We fight for what is right – PKU Journal

This article is not about newborn screening. At least, not directly.

It’s about why we advocate in the first place. Why do we spend so much of our lives spent helping others? Because that’s the point of advocacy.

Advocacy is speaking on behalf of another.

And when we advocate for newborn screening, we remind the world that every life is precious. That humans have inherent dignity.

And that babies are worth saving.

Karen Quandt

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December 26, 2025 at 10:22 PM

open letter to Senator Rand Paul concerning the importance of newborn screening.
Senator Paul you will be visited by 3 ghosts tonight and each one will show you important reasons why families like mine need newborn screening to continue:
The bell tolls one:
Ghost of Christmas past:
Jacob Edward Ruben age 7, died on February 7, 2019 after battling a rare genetic disease called Niemann-Pick Type C (NPC). NPC causes progressive deterioration of the nervous system resulting in dementia, disrupted sleep patterns, seizures, behavioral disturbances, fine and gross motor problems, and learning disabilities. The disease takes away your ability to walk, talk, swallow, eat and breathe. He was born March 2nd, 2011 to Jacob and Tiffany Ruben. Jacob was the older brother of Katelyn, Mason, Logan and Ethan. Jacob and three of his four siblings, Mason, Logan and Ethan, all inherited this horrific progressive disorder.
Jacob and his family are the reason Dr. Robert Guthrie created newborn screening. Newborn screening identifies deadly diseases as early as possible so that treatments can be started early and be most effective for the best quality of life. In the 1960’s Dr. Robert Guthrie, an American microbiologist, developed a newborn screening test for phenlyketouria (PKU), a disease in which the body cannot metabolize phenylalanine. The test detected the disease PKU before the development of irreversible neurologic damage. Dr. Guthrie and his wife had 6 children of their own and their son John was born disabled in 1947. Dr. Guthrie became interested in the causes and prevention of genetic diseases because of his son John’s disabilities. Dr. Guthrie spent the rest of his career working to raise awareness of the need to screen for treatable diseases.
The bell tolls two:
Ghost of Christmas present:
Today in 2025, newborn screening for NPC disease is not recommended in any of the 50 States or territories. There is a pilot study of a newborn screening test for NPC in New York State, but the test is not yet included on the Recommended Uniform Screening Panel, (RUSP) which is a list of conditions for which the U.S. Secretary of Health and Human Services recommends all newborns receive screening. NPC disease is inherited in a recessive fashion. This means that if your parents are carriers of the NPC gene, there is a 1 in 4 chance that you will inherit NPC disease. Jacob and his younger brothers, Mason, Logan and Ethan all inherited NPC disease. Jacob’s sister, Katelyn, does not have the disease. Jacob’s parents, Tiffany and Jacob William, had no way of knowing when their son Jacob was born in 2011, that he or his siblings would inherit the disease. There was an experimental medicine called cyclodextrin (VTS-270, adrabetadex) that was given to Jacob, Mason, Logan and Ethan. This medication had been in clinical trials to treat NPC disease. These trials were no longer enrolling but the boys all were able to be treated with it through expanded access (compassionate use). In order for the medicine to be most effective, it needs to be given early on in the disease process. Another reason why newborn screening is needed
Jacob was treated very late in his disease when he already had severe neurological disability and could no longer walk or talk, and had tube feedings, so the medication could not help him much and he succumbed to the disease. Mason, Logan and Ethan were more mildly involved with the disease when diagnosed based on Jacob’s diagnosis. They are still receiving the medicine through expanded access. The medicine is helping Mason, Logan and Ethan thrive and improving their quality of life in that they can all walk and talk and engage in typical childhood activities. Mason and Logan are now older than Jacob when he died. The medicine was not approved by the FDA. Why was it not approved if it is helping Mason, Logan and Ethan to thrive? One reason is the difficulty of running a trial in NPC disease. Drug trials for common diseases like high blood pressure and asthma can include thousands of participants. The size of the trial makes it easier to achieve better randomization and see statistical significance of the drug’s efficacy. Trials are much more difficult for rare diseases, particularly because symptoms and the rate of disease progression in the patients is often highly variable. The cyclodextrin trial included just 56 children and young adults with a broad range of disease symptoms, which limited the interpretation of the results. Rare disease drugs need another pathway to approval by the FDA. They cannot follow the same pathway to approval as common diseases. The Recommended Uniform Screening Panel, (RUSP) requires that a disease have a FDA approved treatment before the disease is added to the newborn screening list. Getting a rare disease on the RUSP is a difficult process, but diseases like Niemann Pick type C need to be on the RUSP so that Jacob, Mason, Logan and Ethan’s parents will be informed that they carry a terrible genetic disease. Jacob loved being with his family. He loved sports. His favorite team was the Dodgers. Jacob loved music. His favorites were the Disney songs, Primary/church songs, and any song his mother sang to him. He always had a nice big smile. He was an inspiration to all those who supported him during his life. He lives on in his brothers, to whom he gave the gift of early diagnosis, treatment, and longer and better lives.
The bell tolls three:
Ghost of Christmas future:
If Niemann-Pick type C disease is not screened for in newborn screening many children like Jacob, Mason, Logan and Ethan will not be identified at birth and will not be given life changing medicine early in the disease process when the medicine is most effective, and their parents will not know their children have this deadly disease until it is too late.
There is no pathway to get Niemann-Pick type C on the RUSP because the Trump administration eliminated the advisory committee to recommend a disease for newborn screening. “If these shadows remain unaltered by the Future, the children will die.” The advisory committee needs to be reinstated and Niemann-Pick type C disease and other rare diseases need to be added to the RUSP newborn screening list.
This open letter was written with permission from the Ruben family.

Newborn Screening Saves Lives: A Call to Action

Newborn Screening Saves Lives: A Call to Action