Newborn screening advocacy matters. It’s a story that we need to keep sharing—that all babies born in the world deserve access to timely, accurate, and comprehensive newborn screening.
This Newborn Screening Awareness Month I am doing something new for this blog. I am bringing you some guest columns written by friends and fellow advocates in the newborn screening community. And this first op-ed is written by one of the most passionate, fiercest newborn screening advocates I know—Lesa Brackbill.
Lesa got involved in newborn screening advocacy three weeks after her daughter died. That’s when she attended her state’s newborn screening advisory meeting, and since then she’s been on a mission to save other children like her daughter. It took five years of persistent, determined advocacy to help reform her state’s newborn screening program. With Act 133 of 2020, Pennsylvania became the 9th state in the United States to mandate newborn screening for Krabbe Disease (an inherited metabolic disorder).
In April of 2020, Lesa helped start the Leukodystrophy Newborn Screening Action Network. She’s now the Director of Advocacy at Patient Advocacy Strategies. She’s also a board member of Krabbe Connect.
In April of 2025, I learned about the termination of the Advisory Committee on Heritable Disorders in Newborns & Children (ACHDNC) through Lesa’s post on social media. After reading her post, and reflecting on the full meaning of that news, I wrote “Newborn Screening is a Human Right” and “The Newborn Screening System: More Than Just A Test” here on this site.
Lesa later spoke to the Rare Disease Congressional Caucus about the moral imperative of newborn screening. And that’s when I knew I had to ask her to write a guest column.
There are various perspectives on newborn screening. We in the PKU community see it as a source of joy and celebration because it’s our first step in receiving our PKU diagnosis. But we must not forget those for whom newborn screening does not yet work.
And we simply must lock arms with them and help them save their children.
We cannot look away.
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.
This is Why Newborn Screening Advocacy Matters – A Guest Column by Lesa Brackbill, M.A.
Images provided by Lesa Brackbill
“If you had caught it at birth, you could have treated it.”
Those twelve words, spoken on my daughter’s diagnosis day, have haunted me for more than ten years. They echo the unchangeable truth: If you had known, you would have had options. If you had known, you may have been able to act. If only…
On February 13th, 2015, we were told by a kind neurologist that our six-month-old daughter was dying—words no parent should ever have to hear. She had Infantile Krabbe disease, a rare, terminal genetic condition. Yet, the worst part was learning that there was nothing we could do. We were too late.
The day my daughter was diagnosed was the worst day of my life. The day she died began my advocacy journey.
I was unfamiliar with newborn screening. As I held my daughter day after day for the fourteen months she lived post-diagnosis, comforting her in her pain, I used one hand to do so and the other to learn everything I could on my new smartphone. For the first year, her last on earth, most of my advocacy was done from the comfort of my recliner.
Three weeks after she passed away at just twenty months of age, the work began. I attended my first Pennsylvania Newborn Screening Advisory Board meeting and began to learn what needed to change to make our program more effective. Over the next five years, there would be three legislative attempts to fix the regulations, with partisanship halting progress on the first two bills. That struggle became another layer in this journey that has forever changed me. I pivoted, utilizing the team I had built within the legislature.
In November 2020, I finally saw success. My husband and I tearfully watched the vote in the Pennsylvania House of Representatives from our living room TV and cried at the word “Unanimous.” We celebrated again on May 24, 2021, when the law went into effect and Pennsylvania’s NBS program became the strongest in the nation. This was also the day the state began screening for Krabbe disease as a result of my relentless advocacy.
The true meaning of that victory became clear just sixty-seven days later. Identical twin boys were born and diagnosed the following week with Krabbe disease because of newborn screening. They were born on Tori’s birthday. They received early diagnosis because of Tori. I didn’t know their names or anything about them, only that their parents had options for treatment that we didn’t have. Just the thought that they were living made it all worth it.
Advocacy helps bring a small amount of meaning to our loss. It becomes an avenue for our relentless grief and helps us build a legacy for our children.
“What is a legacy? It’s planting seeds in a garden you never get to see.” ~ Hamilton
The fruit of our advocacy work is often unseen. We rarely see the tangible results of our efforts, and that’s how it should be. Advocacy is about serving others, working toward the common good, and preventing pain and suffering. It’s about being a voice for the voiceless. I am a Newborn Screening advocate because it would have saved my daughter’s life, and I want other families to have choices we did not have. I do not do it for praise, recognition, or fame; her legacy is the work I do to change the future for as many families as I can.
Yet, every once in a while, we unexpectedly encounter those whose lives have been changed by the loss we endured. This July, I met those precious twin boys who share my daughter’s birthday. I held them, played with them, and marveled at how well they are doing. For me, these twins represent Tori’s legacy. Their beautiful lives give us all hope for the future for those born with Krabbe disease.
The moment I will truly never forget was when I revealed to their mother who I was and how our stories were intertwined. That hug, those shared tears, are a precious memory for me—two mothers, same disease, but with very different outcomes and a lasting connection.
Newborn Screening brings diagnosis with hope, but that doesn’t mean an absence of trauma or pain. We need to acknowledge this in our advocacy. Yes, these families have the opportunity to try to save their children, but these are still difficult paths to follow. They may not feel gratitude, and we should never expect them to. All we can do is our part to reduce the pain and trauma that comes with any rare diagnosis. The experiences of Newborn Screening families deserve to be validated by our acknowledgement of their reality, not by dismissing them.
The twins’ parents bravely chose to allow their children to be the first to enroll in the gene therapy clinical trial for Krabbe disease. It hasn’t been an easy journey, but it’s one they have walked faithfully and lovingly.
The important part of this story is that they had options. They could choose to intervene—something that was taken from us without our consent because our daughter was not screened for Krabbe disease at birth.
Krabbe Disease stole so much from our Tori, and from us – her smile, her voice, her big beautiful eyes, and her life. I continue to advocate because those babies deserve a chance at life that my Tori didn’t receive.
This is why newborn screening – and advocacy for its improvement – matters. This is why I continue to advocate, so that no other family has to face the question of “if only.”
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