LINDEN, NJ — A bipartisan resolution introduced Thursday by Rep. Tom Kean Jr. and Rep. Josh Gottheimer would designate Nov. 7 each year as National Shwachman Diamond Syndrome Awareness Day, a move tied to advocacy by a Linden teenager living with the rare disease.
“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. 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,” stated Joyce Fitz of Linden.
Fitz is a 17-year-old advocate and senior at the Union County Academy of Allied Health and Sciences.
Shwachman-Diamond syndrome, or SDS, is a rare genetic condition that affects an estimated 2,000 Americans.
The condition impairs the body’s bone marrow, pancreas and skeleton, and can increase the risk of blood disorders including acute myeloid leukemia. SDS occurs in about 1 in 80,000 newborns, is often underdiagnosed because symptoms vary widely, and currently has no cure.
Kean, who represents New Jersey’s 7th Congressional District, said the idea came to his office from Joyce Fitz of Linden. Fitz is a 17-year-old advocate and senior at the Union County Academy of Allied Health and Sciences.
Fitz was diagnosed with SDS after 19 months of seeking answers and has spent years managing bone marrow biopsies, specialist visits and the daily demands of an immunocompromised condition.
“For those living with incredibly rare conditions like SDS, shining a spotlight is the first step toward promoting research and advancing treatment,” said Kean, Jr. “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.”
Gottheimer said, “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. 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.”
“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,” said Fitz.
Fitz chose Nov. 7 to mark the month the disease was first identified in 1964 and the most common gene mutation, 7q11, associated with SDS. A similar resolution was introduced earlier this year in the New Jersey State Assembly.
Kean is also a member of the Congressional Rare Disease Caucus and serves on the Health Subcommittee of the House Energy and Commerce Committee.