The time to change the narrative around newborn screening for unusual genetic health conditions (aka rare diseases) like PKU, phenylketonuria, has come. Let’s flip the script! “Different” doesn’t mean “inferior” or diseased. With stories of real lived experiences, like mine, in memoir When the Baby Is Not OK: Hopes & Genes, parents, advocates and clinicians can revise the story with acceptance and hope. 

PKU Success Stories

Unlike the outcomes for newborns 80 years ago in the US, my daughters’ PKU diagnoses arrived within their first days of life. Based on what I’d been told at my first clinic visits with my babies, it seems that their healthy childhoods and successes as independent young adults have been truly remarkable. They never went “off-diet” and have had a plant-based, low-protein diet for life.

Like many other families I’ve now met, our family story questions what, as a society, we think we know about the genetic “diseases.”

My older daughter who has PKU became a board member of the National PKU Alliance (NPKUA), a nonprofit serving people with unusual diseases and their families. She is also a playwright and producer. She had good grades throughout school and attended a competitive specialized public high school in the City, the High School of American Studies. She graduated with honors from NYU, Tisch School of the Arts. 

My younger daughter who has PKU became a supervisor of administrative  support staff in the mental health care division at Memorial Sloan Kettering Cancer Center, the renowned specialty hospital in the City. She had high grades in school and graduated from the Bronx High School of Science, a top competitive public school in the City. She went on to graduate from college and complete a Bachelors in Public Affairs degree from Baruch College and Masters in Women’s Studies at the City University of New York (CUNY) Graduate Center. 

Not long ago these accomplishments would have seemed impossible for individuals born with PKU. Without access to an early diagnosis and specialty medical care, children who had PKU experienced a range of symptoms of the condition that often led to lifelong disabilities.

For my daughters, like astronomer Tracy Beck who also has PKU and was diagnosed early with consistent access to care, their health condition does not define them.

PKU Awareness Needs Today

Although my daughters have remained in contact with their City clinic, lifelong medical care after the newborn screening is an unmet need for far too many adults. While screening for PKU became the standard across the US, access to care did not. Recent research reports show that more than half of the people diagnosed with PKU through newborn screening don’t go back for medical care of their condition as adults here.

Many adults with PKU have said the reason was lack of health insurance, when interviewed by researcher Stephanie Sacharow and others in Molecular Genetics and Metabolism Reports (2024). A primary reason they are not getting PKU medical care is that their clinic discharged them as children, without follow-up for PKU as adults. Another US study found that fewer than a quarter of adults with PKU had phe levels within the range considered healthy. 

Not going back for clinical care as adults means people with PKU don’t have access to the medically prescribed low-protein formula or nutritional shakes they need in order to live healthier lives. They are, right now, likely experiencing the neurological, physical, mental and social effects that can result from living with PKU and high phe levels.

Lifelong Access to PKU Medical Foods

Access to newborn screening for treatable lifelong health conditions is still an unmet need in many places. And for far too many, coverage for essential medical foods is lacking, too. A bill was proposed in the US to require health insurance coverage of these critical foods, but not yet approved (as of 2024). Named the Medical Nutrition Equity Act (MNEA) it has been introduced in Congress many times. This is a current area of activism and advocacy for people who have PKU or additional inherited metabolic, digestive health, gastrointestinal, liver or pancreatic conditions.

There’s still so much to do. Let’s go!

More about having PKU in the family in my newest book, When the Baby Is Not OK: Hopes & Genes, published February, 2025. Available most places books are sold.