2025 NORD Rare Impact Award Winner
HPS Network honored by National Organization for Rare Disorders
The HPS Network is one of the honorees of this year’s Rare Impact Awards given by the National Organization for Rare Disorders (NORD®). Each year NORD recognizes rare disease heroes —individuals or groups who are driving progress and making a difference on behalf of the more than 30 million Americans living with rare diseases. The HPS Network is being honored this year with the Abbey S. Meyers Leadership Award which honors a NORD patient advocacy organization member that has made significant contributions to the rare disease community through strong leadership in advocacy, education, research, patient support services, or raising awareness.
Running with a Purpose
Dr. Wilfredo De Jesus Rojas runs with a purpose honoring patients with HPS at Bay to Breakers, 2025
Dr. Wilfredo De Jesus Rojas ran the 15K Fun Run, called Bay to Breakers, in honor of the Hermansky-Pudlak Syndrome community during the American Thoracic Society’s international meeting, May 16 – 21, 2025 in San Francisco, CA. Let him tell us about it in his own words:
As a pediatric pulmonologist, my daily work centers on the breath—on helping children with rare and chronic lung diseases take each breath more freely. But on this day in San Francisco, I ran not for myself, but for those whose breaths are often labored, limited, or lost to time and misdiagnosis.
Participating in the iconic Bay to Breakers race, I proudly wore the message “Dare to Be Rare” across my chest in honor of my patients with Hermansky-Pudlak Syndrome (HPS)—a rare genetic disorder that affects the lungs, among other organs. For these patients, every step can feel like a marathon. So I ran those 15 kilometers carrying their stories, struggles, and hopes.
Running through the streets of San Francisco, I wasn’t just chasing a finish line. I was advancing a movement—for awareness, for earlier diagnosis, and for better care. HPS is more than a medical condition—it’s a challenge of equity and recognition, especially in underserved communities.
Let this run be a call to action: to clinicians, researchers, families, and policymakers. Rare diseases are not rare to those living with them. Together, we must raise awareness, empower our communities, and ensure no child’s breath goes unheard – Wilfredo De Jesus Rojas, MD, FAAP, Pediatric Pulmonologist
HPS Research Funding Opportunity
The Peer Reviewed Medical Research Program (PRMRP) is accepting letters of intent for research grants. Hermansky Pudlak Syndrome is one of the diseases eligible to be considered for funding. This year, the program is accepting transitional and clinical research proposals.
Letters of intent are due June 9, 2025. To submit a letter of intent, go to:
https://ebrap.org/eBRAP/public/ProgramFY.htm?programFYId=583103
HPS Network joins sponsors of the Gordon Research Conference
HPS Network joins sponsors of the Gordon Research Conference (GRC) Promoting Health Across the Lifespan in Developing and Aging Lungs
The HPS Network will be one of the sponsors for the upcoming Promoting Health Across the Lifespan in Developing and Aging Lungs, to be held July 27 – August 1, 2025 in Lucca, Italy.
The Lung Development, Injury and Repair GRC is a premier, international scientific conference focused on advancing the frontiers of science through the presentation of cutting-edge and unpublished research, prioritizing time for discussion after each talk and fostering informal interactions among scientists of all career stages. The conference program includes a diverse range of speakers and discussion leaders from institutions and organizations worldwide, concentrating on the latest developments in the field. Several of the presenters have also been involved in the HPS Network Meeting of the Minds, an annual research meeting exploring science that can lead to better treatments, and someday a cure, for HPS.
The Lung Development, Injury and Repair GRC conference topics span basic and translational aspects of the inductive developmental interactions that inform adult lung repair and regeneration. Dysregulation of such interactions is a hallmark of both aging and the causes of chronic lung diseases.
HPS Network supports virtual pulmonary rehabilitation bill
HPS Network supports virtual pulmonary rehabilitation bill
Pulmonary rehabilitation is a critical medical service to improve the quality of life for many people living with chronic lung disease. Medicare covers pulmonary rehabilitation delivered in certain settings, typically hospitals and clinics. To improve access to care during the pandemic, CMS created special rules to cover several medical services delivered via telehealth, including pulmonary rehabilitation administered by hospitals via two-way teleconferencing between a patient and a licensed healthcare provider. This proved especially helpful to people with Hermansky-Pudlak Syndrome who are mostly legally blind and often are not able to drive. By offering this therapy virtually, it has made it easier for people with HPS to access pulmonary rehabilitation. The Sustainable Cardiopulmonary Rehabilitation Services in the Home Act would improve patient access to cardiopulmonary rehabilitation services by permanently allowing Medicare patients to receive cardiopulmonary rehabilitation services via virtual telecommunications technology (real-time, audio-video) in the beneficiary’s home (which would serve as the originating site), wherever the home is located throughout the country, including when those services are furnished by hospitals as distant site providers. Additionally, virtual direct supervision by physicians, physician assistants, nurse practitioners, or clinical nurse specialists would be allowed through two-way audio-visual communications technology.Although this bill only applies to Medicare, often other insurance companies follow Medicare’s lead. Ask your Congressional representatives in the House to co-sponsor H.R. 783. They may contact, Tyler Mortier with Representative John Joyce or Dillon Cooke with Representative Scott Peters. Please also ask your senators to co-sponsor S. 248. They may contact Jacob Danegger with Senator Marsha Blackburn or Ruth McDonald with Senator Amy Klobuchar.
Link to sample letter for the House of Representatives
Urge Congress to protect crucial funding for NIH and FDA
Urge Congress to protect crucial funding for NIH and FDA
The Fiscal Year 2026 (FY26) appropriations process continues! Congress has important decisions to make in the upcoming months regarding the fiscal year 2026 funding for the National Institutes of Health (NIH) and the Food and Drug Administration (FDA). Send a message to your Senators and Representative today urging them to make rare disease health a priority by supporting robust funding for the NIH and FDA. Many treatments for rare diseases have been developed from the work done by the NIH, and FDA plays a critical role in delivering on the promise of these new treatments. It is critically important to ensure this support continues in order to help current and future generations.
Follow the link below to NORD’s website which offers an auto-generated letter you can send to both your Senators and your Congressman. Just type in your name, and address and fill in the blanks. https://rarediseases.org/driving-policy/take-action/#/257
Protect Medicaid for Rare Disease Patients
Protect Medicaid for Rare Disease Patients
In the coming months, Congress could vote on legislation that would cut Medicaid coverage and funding from millions of rare disease patients. We need your help to tell members of Congress to vote NO on cutting Medicaid coverage for those living with rare diseases and their families.
To easily send a letter to our Congressional representatives, visit the National Organization for Rare Disorders advocacy page on their website here: https://rarediseases.org/driving-policy/take-action/#/250
Ad Hoc Group for Medical Research welcomes Congress
The HPS Network joined the Ad Hoc Group for Medical Research in welcoming members of the 119th Congress
As a new congressional session begins, the letter introduces the Ad Hoc Group and emphasizes the critical importance of federal investment in NIH to improve the lives of patients and communities across the nation, drive medical breakthroughs, strengthen the economy, and ensure that the U.S. remains a global leader in medical research. The HPS Network’s Donna Appell, Executive Director added her signature to show the Network’s endorsement
As the new Congress begins its work, many of the bills the community has supported previously will be re-introduced. As they are, the HPS Network will reach out to you to play a part in turning those bills into laws.
Read the full letter here: Ad Hoc Group Welcome Letter for 119th Congress
Community Champions for Disability Health Challenge finalist
HPS Network finalist in Community Champions for Disability Health Challenge
The HPS Network is honored to be one of eight first-round finalists in the National Institutes of Health’s Community Champions for Disability Health Challenge. The prizes encourage community-based organizations to develop and implement strategies to address healthcare disparities experienced by those with disabilities. These eight organizations were chosen from 120 entries and each, including the HPS Network, will receive a $25,000 prize. The HPS Network plans to use the prize to further support the HPS clinics in Puerto Rico by offering transportation assistance. The Network will also use funding to support the HPS Puerto Rico Conference. It also allows the Network to compete in phase II of the contest for the opportunity to win additional funding.
Dr. Samuel Seward Joins the HPS Network as Chief Medical Officer
Dr. Samuel Seward Joins the HPS Network as Chief Medical Officer
Oyster Bay, N.Y. – Dr. Samuel Seward has joined the HPS Network as Chief Medical Officer. Dr. Seward has a long history of serving the HPS community. He was a founding member of the HPS Network’s Medical Advisory Board and ran a clinic serving people with HPS at Mt. Sinai Medical Center for more than 2 decades.
“We are thrilled to have Dr. Seward joining our staff,” said Donna Appell, Founder and Executive Director, “He has been so kind to us for many years. We are blessed to have a Chief Medical Officer with in-depth knowledge of HPS already.”
Seward has more than 25 years of experience in healthcare leadership. He was Chair of the MSMW Department of Medicine in the Icahn Mount Sinai Health System and ran a $100M (USD) and 600+-person department. Its mission was to train future generations of physicians; to provide care across socioeconomic and other barriers to access; to improve health outcomes of communities; and to discover therapeutics and improve understanding of human biology
Trained as both a pediatrician and an adult internist, Seward is committed to the rare disease community. Over the years, Seward’s clinical practice included children and adults living with Cystic Fibrosis, Spinal Muscular Atrophy (Type 2), Charcot Marie Tooth Disorder, complex congenital heart diseases, Retinitis Pigmentosa, Oculocutaneous Albinism and others.
Seward received his Bachelor of Arts from McGill University in Montreal, Canada, and his MD from the University of Texas Southwestern Medical Center in Dallas, Texas.
As a previous ‘Doctor of the Year’ award winner, we are thrilled to congratulate ourselves with Dr. Seward coming onboard.
The HPS Network’s mission is to provide education and vital support programs to individuals and families with Hermansky-Pudlak Syndrome while striving for improved care and innovative research on our journey to a cure.