ICYMI: Gottheimer, Kean Introduce Bipartisan Resolution to Raise Awareness for Rare Genetic Disorder, Shwachman-Diamond Syndrome

WASHINGTON, D.C. — This week, Congressman Josh Gottheimer (NJ-5) and Congressman Tom Kean, Jr. (NJ-7) announced new bipartisan legislation to designate November 7 of each year as National Shwachman-Diamond Syndrome Awareness Day, helping amplify awareness of a rare genetic condition that affects an estimated 2,000 Americans.

Shwachman-Diamond syndrome (SDS) is a rare, often underdiagnosed condition that impacts approximately 1 in 80,000 newborns. The disease affects the body’s bone marrow, pancreas, and skeletal system, and increases the risk of serious blood disorders, including acute myeloid leukemia. Because symptoms vary widely, diagnosis often requires extensive clinical evaluation, bloodwork, and genetic testing. While treatments can help manage complications, there is currently no cure, and SDS can shorten life expectancy.

“Families facing rare diseases like Shwachman-Diamond Syndrome don’t have time to wait — and neither can we. We must boost funding for research and strengthen and expand clinical trials,” said Congressman Josh Gottheimer (NJ-5). “I am proud to fight for this bipartisan and commonsense legislation. Families can’t wait. We have a responsibility to push forward until we deliver real hope — and ultimately, a cure.”

“For those living with incredibly rare conditions like SDS, shining a spotlight is the first step toward promoting research and advancing treatment,” said Congressman Tom Kean, Jr. (NJ-7). “Joyce Fitz, a Linden resident, has dedicated herself to fighting for recognition for her community, and when she came to my office with this idea, it was clear we needed to spread awareness on the national level. Every individual living with SDS deserves to have their daily fight recognized, and I am proud to lead this bipartisan effort to make that a reality.”

The effort to establish a national awareness day was led by Joyce Fitz, a 17-year-old advocate from Linden, New Jersey, and a senior at the Union County Academy of Allied Health and Sciences. After nearly two years of searching for answers, Joyce was diagnosed with SDS and has since navigated the challenges of living with a complex, immunocompromised condition — including bone marrow biopsies, frequent specialist visits, and ongoing uncertainty.

“As a young advocate living with Shwachman Diamond Syndrome I know what it means to face a rare disease with no cure and limited treatment options,” said Joyce Fitz. “Patients and families tackle the daily burdens of complex medical care and uncertainty living with a condition most medical professionals have never even heard of.

“It means the world to me that when I spoke up for my SDS community, Congressman Tom Kean, Jr. truly listened and chose to stand by me on this journey towards bringing national recognition to this disease. Establishing a National Shwachman Diamond Syndrome Awareness Day is the first step to ensure my community is seen, while bringing us one step closer to the research, treatments, and ultimately a cure that patients are waiting for,” Joyce added.

Joyce selected November 7 to mark the month the disease was first identified in 1964, as well as the most common gene mutation (7q11) associated with SDS. A similar resolution has already been introduced in the New Jersey State Assembly.

Congressman Josh Gottheimer serves as a member of the bipartisan Congressional Rare Disease Caucus and as Co-Chair of the Congressional Sarcoidosis Caucus.

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