Newborn Screening for “Rare Disease”: What Are the Odds?

Steps for knowing the odds and finding your community in the "rare disease" space.

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February 28th is Rare Disease Day worldwide, a time to raise awareness and generate change for millions of people worldwide living with rare health conditions, and their families. Finding and helping each new case begins with newborn screening. Where screening is mandatory, expectant family members may not know their baby’s heel is going to be pricked. If parents are aware of the heel prick and the analysis that follows, still, they might not think much about it. Maybe not at all. I didn’t. And when the first screening’s results show that the newborn’s genes function as expected, parents will probably never hear another word about it.

Unless they do. And I did.

Out of nearly four million who get newborn screening each year, about 12,000 babies are diagnosed with a "rare disease" in the US alone. At that moment, knowing about the odds of the health conditions on the test, and how to find communities that share lived experiences and advice can be a great help.

Any specific rare disease is called that because fewer than 200,000 people have it. But since there are thousands of different kinds of rare diseases, having any one of them is far from rare. One in 10 to be exact in the US, have a so-called “rare disease”, says the National Organization for Rare Disease, NORD.

What are the lived experiences with rare disease like?

My daughters were diagnosed after newborn screening with a condition called phenylketonuria, or PKU. When I got the news, every bad thought I’d ever had in my entire life that related in any way to PKU flashed before my eyes. In times past, it had been a cause of delays in baby’s development, and of intellectual and physical disabilities. I couldn’t think about the promise of modern medical care for PKU because I didn’t know a thing about it. Nothing about the present realities for children or adults who were actually living with PKU. Nothing about the optimism that might inspire. Nothing about the hope.

New parents deserve more.

I didn’t know, for example, about filmmaker Kevin Alexander, who had PKU diagnosed through newborn screening. He began lifelong PKU medical care during infancy that prevents disabling symptoms. Kevin went on to become an internationally recognized health advocate for newborn screening. When he met a little girl, Katy, whose experience was very different, he decided to share her story with her parents’ approval in the short film For Katy.

Katy had been born in a hospital in Mexico where newborn screening was optional. Staff there didn’t communicate the reasons screening mattered. Shared nothing about how early medical care could prevent damage to health later. Because of this omission Katy’s parents had no idea screening could protect their child’s future. The hospital didn’t screen at birth.

For Katy documents suffering and frustration in the baby’s early days. She developed irreversible neurological effects, delayed development and cognitive impairment resulting from her health condition – only later diagnosed as PKU. Her parents went on to speak out publicly with a message of hope encouraging newborn screening. They surround Katy with loving care to live her best life.

How different Katy and Kevin’s lives were. The range of diverse possible health outcomes for unusual health conditions must be openly shared by health care providers. Knowing the best possible scenario is empowering for families. Every rare health condition varies in how it shows up from person to person. How that will play out in reality is simply not possible to predict for any individual, at birth. And providing worst-case scenarios is tragically unhelpful.

What can we do to advocate for our families and take power back?

A large body of information exists that could benefit expectant parents and new parents alike. But it’s not yet routinely shared unless you ask.

Real parents’ modern-day success stories of loving and raising their kids with unusual health conditions can be helpful. Models of childhood and adolescent achievements by people born with a child’s specific health condition can be helpful. Lived experiences of people with the same diagnosis, in their own words, can be helpful. Along with linkages to supportive patient and family communities. And so can mentions of ongoing research for improvements in future options for a child’s specific health condition.

The oft-repeated, time-worn stories that I’d been told, of what happened when a person with an unusual health condition didn’t have access to care – are not helpful at all. Especially without having the previously listed context.

Here are a few steps to take our power back when faced with a newborn’s uncertain health future.

1. Ask about newborn screening. Even if you’re squeamish about the baby’s heel getting pricked for this blood test, or sceptical of where that blood will eventually wind up, screening can make a world of difference through early care. Ask, what are they testing for? What can they tell you about the odds of these?

2. Demand to know when and how newborn screening results will come back to you. While testing is mandated, reporting times vary a lot. For some rare health conditions, finding out within the first few days becomes critical to a baby living their personal best health.

3. Find your community. Ask the health care team about patient groups you can join. People with shared lived experiences, parent and patient organizations, and social media groups are here for you to provide comfort and advice in your health journey. A few great sources are the Being Rare Podcast: Live / Bold / Unscripted hosted by parent Sarita Edwards, the Never Give Up: A Rare Disease Podcast by patient advocate Kevin Alexander, and the Once Upon a Gene: True Stories of Raising Rare Kiddos, podcast by parent Effie Parks.

About the Author

Jennifer J. Brown, PhD publications include science communications, health news, narrative nonfiction, novels, short stories and poems as J.J. Brown. Originally from the Catskill Mountain region of New York, she lives in New York City. Brown completed a PhD in genetics from SUNY Stony Brook for science research at Cold Spring Harbor Laboratory in New York. Brown’s genetics, medical education and public health research works are published in leading scientific and professional journals. She currently serves as a volunteer mentor at the non-profit National PKU Alliance, NPKUA.

What questions do you have about advocating for yourself or your family members with rare diseases in healthcare?

References for this post along with other resources:

Rare Disease Day 2025. More information available at: https://www.rarediseaseday.org/

Brown, Jennifer J. When the Baby Is Not OK: Hopes & Genes. 2025. Available at: https://www.amazon.com/dp/B0DT7MZ7YL

For Katy - A Film About Newborn Screening directed by Kevin Alexander, YouTube 2013. Available at: https://pkujournal.com/for-katy-a-film-about-newborn-screening/

NORD, National Organization for Rare Disorders. 1983 - present. This nonprofit is dedicated to individuals with diseases and the organizations that serve them. Its mission is to improve the health and well-being of people with rare diseases by driving advances in care, research and policy. Available at https://rarediseases.org/

Being Rare Podcast: Live / Bold / Unscripted, hosted by Sarita Edwards highlights the unique perspectives of individuals living with rare diseases. From The E.WE Foundation: A Global Healthcare Advocacy Organization for Families with Rare Diseases. Available at: https://theewefoundation.org/ , YouTube and Apple Podcasts..

Never Give Up: A Rare Disease Podcast, by Kevin Alexander, 33 episodes through 2025. This inspirational podcast is about mental health and disease, a companion to the blog, PKUJournal.com. Available at: https://pkujournal.com/ and YouTube and Apple Podcasts.

Once Upon a Gene: True Stories of Raising Rare Kiddos, podcast by Effie Parks explores the world of raising children with disabilities and rare genetic disorders. Host Effie Parks shares her own personal story of raising a child with CTNNB1 syndrome, while trying to find the non-existent rule book of bringing up such a special kid. Podcast features interviews with fellow parents, therapists, doctors and anyone else who wants to share their story. Available at: https://effieparks.com/ and on Apple Podcasts.

The E.WE Foundation: A Global Healthcare Advocacy Organization for Families with Rare Diseases. The E.WE (/ē/·/wē/) Foundation is established to provide resources and support to families impacted by Trisomy 18 (Edwards Syndrome) and other rare diseases. Available at: theewefoundation.org.