September is National Newborn Screening Awareness Month—a time to reflect on the life-saving power of early diagnosis and to push for expanded screening for rare diseases across the nation. This September, the National MPS Society is especially proud to start the celebrations with good news: as of August 30, 2025, North Carolina has officially begun screening all newborns for Mucopolysaccharidosis II (MPS II, also known as Hunter syndrome).
This milestone places North Carolina among more than a dozen states at the forefront of progress for children and families impacted by MPS. Newborn screening is more than a medical test—it is a lifeline. For some children born with MPS and mucolipidoses (ML), their disease is invisible at birth. Without early screening, diagnosis comes too late, and irreversible damage has already occurred. Early identification through newborn screening enables the initiation of treatment sooner, paving the way for improved health, longer lives, and brighter futures.
“The launch of newborn screening for MPS II in North Carolina is a significant achievement for our state Newborn Screening Program and for the babies and families we serve,” said Dr. Scott Shone, Director of the State Laboratory of Public Health at NCDHHS. “We are grateful for the ongoing support from our partners throughout the North Carolina NBS system.”
North Carolina’s advancement comes after years of research and advocacy, including a pilot study that demonstrated both the feasibility and the value of screening for MPS II in the state. Families like the Selsers experienced firsthand the benefits of this progress. Their son Benjamin was diagnosed as part of the pilot program, effectively changing the trajectory of his care and life.
Benjamin Selser was diagnosed with MPS II as part of North Carolina’s pilot study in MPS newborn screening.
“Our son Benjamin was diagnosed with Hunter Syndrome at only seven weeks old,” said Megan and Edward Selser, Benjamin’s parents, in a joint statement. “His diagnosis was caught through a pilot study that was being conducted in the state of North Carolina. Since then, all newborns in the state will now be screened for our son’s condition.”
“Screening for this condition at birth improves not only the quality of life for children, but for their families as well,” they continued. “While we will always grieve the seven week period of ‘ignorant bliss’ that we had with our son, we are forever grateful for early detection and early treatment. Knowing this information early has connected us to all of the people we never knew we would need to navigate this journey.”
Stories like Benjamin’s embody why the Society regularly works with industry leaders, politicians, and other patient advocacy organizations to advocate for enhanced newborn screening across the nation. Without it, families are too often left wandering through what’s often referred to as a “diagnostic odyssey”—a journey of weeks, months, and sometimes even years filled with uncertainty, frustration, and lost time. For diseases as aggressive as MPS and ML, lost time can mean lost opportunities for treatments or interventions that could have significantly improved an individual’s quality of life.
As we head into the month celebrating a hard-won victory in North Carolina, we must also face the sobering reality that many states across the U.S. still do not screen for MPS disorders. The patchwork nature of newborn screening in America leaves too many families vulnerable, when the reality is that every baby deserves an equal chance at early diagnosis, regardless of geography. That is why the National MPS Society continues to advocate for the addition of all MPS disorders on the national Recommended Uniform Screening Panel (RUSP), and better access to care for impacted families.
The National MPS Society has played a pivotal leadership role in driving national progress, spearheading both the successful federal nominations of MPS I and MPS II to the Recommended Uniform Screening Panel (RUSP). These efforts—spanning scientific evidence, coalition-building, and direct advocacy—are landmark achievements that now provide a pathway for states to implement universal screening for these conditions. This leadership underscores the Society’s ongoing commitment to ensuring that every child has access to early, life-saving diagnosis.
Our work, however, has recently been made more complicated by troubling trends at the national level. In April of this year, the federal Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was dissolved. In the past, this committee played a vital role in evaluating which conditions should be added to the RUSP: without it, decisions about newborn screening would become fragmented, less transparent, and more challenging to advance. Since the committee’s dissolution, Terri Klein, President and CEO is working beside other stakeholders to unite and form a new committee for newborn screening review. This will not be a light lift, but critical for the rare disease families.
“The addition of MPS I and MPS II to the federal RUSP demonstrates what is possible when science, advocacy, and policy converge for the benefit of children,” said Terri Klein, President and CEO of the National MPS Society. “But these victories mean little without timely and consistent implementation at the state level. Every day of delay in newborn screening is a day that families risk losing precious opportunities for intervention. We must ensure that the promise of screening becomes a reality for every newborn, in every state, without exception.”
Compounding this, MPS and ML families are facing mounting challenges with delayed approval of treatments from the Food and Drug Administration (FDA). Promising therapies like UX111 for the treatment of Sanfilippo Syndrome, and RGX-121 for the treatment of Hunter Syndrome, are being held back by regulatory delays and uncertainty. For families living with progressive diseases, time is not a luxury. Every day that treatments are delayed carries a devastating cost.
Because of early diagnosis and access to treatment, Benjamin is doing very well–pictured with his parents, Megan and Edward Selser.
“Our community has fought too hard to see progress delayed by systemic barriers,” said Klein. “Children with MPS and ML deserve timely access to treatments as they become available. It is deeply concerning to see trends that slow or block these pathways to care, when we know early intervention can mean everything.”
We are doubling down on advocacy efforts, including in-person visits to Capitol Hill this October, to ensure the voices of families are heard. We are pressing for stronger systems that ensure consistency in newborn screening, clarity in regulatory pathways, and above all, equity in access to care.
“Our commitment is unwavering,” said Sharon King, COO at the National MPS Society, and a rare disease advocate of nearly twenty years. “We will continue advocating for clarity, stronger systems, and a future where every newborn with MPS or ML is identified early and has access to the treatments and support they need.”
The progress in North Carolina is proof that advocacy works, that science and policy can come together to deliver meaningful change, and that hope is not misplaced. Every heel prick that includes a test for MPS or ML is a small act with immeasurable potential—increasing time for families, earlier opportunities to access resources and support, and, most importantly, a chance to dream about a future that might have seemed otherwise impossible.
But progress in one state is not enough. National Newborn Screening Awareness Month reminds us that while we celebrate milestones, we must also confront the gaps that remain. Our fight is to ensure that every baby, in every state, receives the same chance at early diagnosis and care. It is to ensure that the treatments we know are possible are not locked behind bureaucratic walls. And it is to ensure that families walking this journey never walk it alone.
We have come a long way. Ten years ago, newborn screening for MPS II was only an idea. Today, it is a reality for every newborn in North Carolina. Tomorrow, we want it to be a reality everywhere.
You are invited to join us in Bethesda, Maryland for our 37th Annual Family Conference! Located just outside of Washington, D.C., this conference will feature a day of science and advocacy sessions as we meet with the FDA and NIH, and a second day with family conference sessions, care management tracks, and a SPIRIT conference for our adults with MPS or ML (ages 18+). Make plans to come to Maryland on September 28-30th to be a part of the event!
This conference will take place at the Hyatt Regency Bethesda Hotel. For more information and to register, please click here.
Our Connected Together conference will begin on Thursday, September 28 with dinner and breakout sessions. Science and advocacy sessions on Friday will bring you directly into conversations with policymakers and those making decisions about clinical studies and treatments. Adults with MPS or ML will enjoy time together on Saturday, learning about topics they have requested, as families join for sessions relevant to their needs.
We will offer scholarships for families to attend the conference, and for adults to participate in the SPIRIT conference. Click here for scholarship information. All applications must be completed online by July 17, 2023. Scholarships are limited, and prioritized for those who have not been to a conference in person before. Anyone planning to attend should book their rooms early to ensure a space in the block, which provides the best rate per night until it sells out.
Following the conference, we will hold our popular Speakers’ Bureau program in Washington, D.C.! Members interested in attending will be trained in how to share their stories, updated on legislation relevant to the MPS and ML community, and go to Congress to meet face-to-face in meetings on Monday, October 2. The Speakers’ Bureau program offers scholarships to participants. To register for more information and indicate your plans to attend Advocacy Day, click here.
