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.
Genetic Screening Revelations in Chinese Population
Journal article: Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
Link: https://www.sciencedirect.com/science/article/abs/pii/S0009898124020655
Summary: These researchers used newborn screening to investigate the frequency of Hermansky-Pudlak Syndrome in China. Newborn screening is not commonly used to screen for HPS in the United States because newborn screening tests are wet mount (fresh blood) tests. Genetic screening for HPS in the US is usually only done if the parents seek genetic testing for albinism. Thus, this method is not used in the US to estimate occurrence. The Chinese researchers identified hotspot mutations in seven genes associated with Hermansky-Pudlak Syndrome. Hotspot mutations mean that these segments of DNA are particularly susceptible to genetic alteration. They also found a Chinese-specific variant suggesting a potential founder effect. They determined the estimated prevalence rate of HPS in the Chinese population as 2.84 per 1,000,000. To determine this, their study looked at 29,622 newborns of Chinese descent. The newborns were recruited for the study from October 2018 to October 2023. They came from 13 provinces nationwide and were distributed across four major administrative regions of the country. Most participants were from North China (73 %), with only a small percentage from East China (8 %) and South China (7 %) The population of China is 1.43 billion.
HPS Included in 2025 DoD Research Program
HPS Included in 2025 DoD Research Program
Oyster Bay, NY – In August, the Senate Appropriations Committee unanimously approved the Defense Appropriations bill in a 28-0 vote. For the first time, the committee report accompanying this bill includes Hermansky-Pudlak Syndrome as an eligible condition for the Peer Reviewed Medical Research Program.
The Peer-Reviewed Medical Research Program (PRMRP), established in fiscal year 1999 (FY99), has supported research across the full range of science and medicine. Its underlying goal is to enhance the health, well-being, and care of military Service Members, Veterans, retirees, and their family members.
The Senate recommended $370 Million for the PRMRP in Fiscal Year 2025. To prepare to utilize this opportunity, please refer to the framework used in 2024.
In Fiscal Year 2024, the PRMRP included six different funding mechanisms: discovery award, investigator-initiated research award, impact award, technology/therapeutic development award, lifestyle and behavioral health interventions research award, and clinical trial awards. Grant letters of intent were due in early May, and complete applications were due in early June-August.
You can learn more about the program at https://cdmrp.health.mil/prmrp/
The HPS Network is committed to leveraging this opportunity to the fullest. We eagerly look forward to collaborating with our science and research community to ensure that this funding is utilized effectively.
Lastly, we would like to extend our heartfelt thanks to our relentless advocates and lawmakers for this opportunity. Your unwavering support and dedication have been instrumental in achieving this milestone. We are excited to see where this research takes us next!
The HPS Network, Inc. is a 501c3 whose 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 cure.
Supplemental Oxygen Access Reform (SOAR) Act
HPS Network supports SOAR Act (S. 3821, H.R. 7829)
The HPS Network joins with a coalition of other patient advocacy groups and interested professionals to support the Supplemental Oxygen Access Reform Act or SOAR Act (S. 3821, H.R. 7821). The legislation would reform Medicare supplemental oxygen benefits to ensure Medicare beneficiaries continue to have real access to essential medical treatment. Although the bill does not address private insurers, it is common practice for private insurers to follow Medicare’s lead.
“This is important legislation for the Hermansky-Pudlak syndrome community because so many of us eventually require oxygen therapy. The system that provides oxygen in our country has been broken for years. It can leave patients unable to get what they need, and condemns many patients on oxygen being unable to participate in routine activities of daily living outside of their homes,” says Heather Kirkwood, Chairperson of the HPS Network’s Board of Directors and a patient who has used oxygen for more than eight years.
The legislation would:
1. Ensure supplemental oxygen is patient-centric
- Change “home oxygen” to “supplemental oxygen” to ensure people requiring oxygen can live full lives outside their primary residence
- Create a patients’ bill of rights to ensure care is focused on patient needs
2. Ensure access to liquid oxygen for patients for whom it is medically necessary
3. Create a statutory service element to provide adequate reimbursement for respiratory therapists to ensure patients have access to their expertise
4. To ensure predictable and adequate reimbursement and to protect against fraud and abuse, establish national standardized documentation requirements that rely upon a template rather than prescriber medical records to support claims for supplemental oxygen suppliers.
If you want to write to your Congressional representatives and ask them to co-sponsor the SOAR Act (S. 3821, H.R. 7829), you can use one of these sample letters:
Join Our Team of Advocates
Did you know the HPS Network advocates for federal research funding? Rick Bowman has been championing this cause for us and he needs your help.
If you are interested and able to meet with your members of Congress either virtually or in person, please send us your Name, phone#, email address and physical address to info@hpsnetwork.org so that we can add you to the team and Rick can get you connected with the appropriate member of Congress.