Care Management for the HPS Network "Pop-Up" Clinics in Puerto Rico

Hermansky-Pudlak Syndrome Network Inc.

The problem we are addressing is the lack of specialized medical care and support services for individuals with Hermansky-Pudlak Syndrome (HPS) in Puerto Rico. In 2016 we began addressing this problem by being instrumental in opening a clinic for the multidisciplinary care of the HPS community. The HPS Network aids in management of the free clinics and recruitment of the patients that attend.  On average, 30 to 40 individuals and families are seen every 3 to 4 months. Subspecialists from the fields of genetics, hematology, dermatology, pulmonology, gastroenterology, psychology, pediatrics, and general medicine volunteer their time.  They come from all the different medical centers around the island which creates a challenge tracking patients’ medical records and following up with care. A cohesive Care Management system will bring a better standard of care to this rare disease community in Puerto Rico.

Despite its rarity, HPS has a notably higher prevalence in Puerto Rico due to genetic factors, creating a unique and urgent healthcare challenge in this region.  It is estimated that 1 in 1,800 Puerto Ricans has HPS1, compared to a global prevalence of approximately 1 in 500,000 to 1,000,000. Due to the founder effect, Puerto Rico has the highest prevalence of HPS accounting for 50% of all cases worldwide (Wilfredo DeJesus Rojas, MD & Lisa R. Young, MD, Hermansky-Pudlak Syndrome: Seminars in Respiratory & Critical Care Medicine, 2020; 41:238-246). While globally rare, HPS presents significant healthcare challenges wherever it occurs, requiring specialized care that is often lacking.

Individuals with HPS face multiple health issues, including vision problems, frequent bleeding episodes, and serious lung disease. Pulmonary fibrosis, occurring 100% of the time in HPS1, 2 & 4, is progressive and life-threatening, often leading to death in the third or fourth decade of life without proper management. The chronic nature of HPS and its complications result in significant healthcare cost, loss of productivity, and substantial emotional and financial burdens on families.  There is a general lack of awareness about HPS among healthcare providers, leading to misdiagnoses and inadequate treatment.  Puerto Rico faces challenges in providing specialized care due to limited medical infrastructure and resources dedicated to rare diseases.  Many affected individuals and families struggle with the high cost of medical care and lack access to necessary medications and treatments, such as antifibrotics and oxygen.  Because it is an island, Puerto Rico's geographic isolation additionally complicates access to specialized medical interventions available on the mainland- such as lung transplantation. Studies have shown that individuals with rare diseases, including HPS, often experience delays in diagnosis and treatment, contributing to poorer health outcomes (Global Genes, 2020). 

By addressing these factors, our solution aims to significantly improve the quality of life and health outcomes for individuals with HPS in Puerto Rico, while also contributing valuable insights to the global understanding and management of the syndrome.

Our solution is to create a cohesive care management system to facilitate improved health outcomes for this under resourced rare community.  The challenge of collecting medical records and following up with care will be mitigated by a care management system to allow for: improved access to a better quality of care, support research and data collection, and the training of healthcare providers.

Presently, patients seen at these clinics, are given a folder to collect their records, prescriptions, and care management paperwork. Patients are encouraged to bring this folder every time they attend the clinic. This process has become difficult to manage because families would forget, doctors needed to see each other’s interventions that were recommended, there was no documentation of progress.  Hiring a care management coordinator will help collect and organize data, records, and recommendations.  Responsibilities would also include maintaining a compatible platform with electronic health records to streamline patient data management and facilitate seamless information sharing among healthcare providers as well as enrolling patients into our own database the Albinism International Databank (AID). We could then follow up with the patients and be certain that they understand the medical advice they are being given.  This gives us an opportunity to educate our community and empower them to become their own health advocates. Standard of care materials from the Network including the QR code for first responders, which house the micrographs to explain the platelet defect could be distributed.  The efficiency created by this project will also enable care providers the time to write the letters and make the calls necessary to access specialty medications and oxygen.

This funding will allow the Network to support research and data collection within the clinics.  As part of care management, information will be loaded into the AID and biospecimens obtained in a joint effort between the Network and researchers on the island.  This will promote a better understanding of HPS and support the development of new treatments, while systematically collecting data to track health outcomes and improve care strategies.

These innovative elements combine to create an excellent training opportunity for young clinicians.  The clinics engage the volunteer assistance of many medical students and young residents.  The invaluable exposure to this rare community will foster greater understanding of the diagnosis and management of HPS along with the monumental challenges of daily life for those with HPS and their caregivers living in Puerto Rico.

HPS is a single gene disorder that has a founder effect in Puerto Rico causing a high prevalence on the island.  1 in 1800 Puerto Ricans have HPS 1(Wilfredo DeJesus Rojas, MD & Lisa R. Young, MD, Hermansky-Pudlak Syndrome: Seminars in Respiratory & Critical Care Medicine, 2020; 41:238-246). Barriers abound to quality expert care and access to healthcare providers knowledgeable about HPS is difficult in the remote areas of Puerto Rico. People with HPS have albinism, legal blindness, a bleeding disorder, Crohn’s like colitis and in 3 of the 11 subtypes a fatal pulmonary fibrosis. HPS 1 which is so prevalent on the Island progresses to a fatal lung disease 100% of the time.  The vision impairment makes traveling to and from medical appointments difficult leading to a lack of critical health care.  The delay in medical access leaves people to only seek care when their lung disease has progressed to an advanced state leaving them few options. When the disease reaches the final state, there are no lung transplant centers on the Island.  

The aftereffects of recent hurricanes and earthquakes have strained an already underserved community and weakened the medical system.  Many health care workers and subspecialty experts have left the island, leaving a dearth of HPS expertise.  By training early professionals in the care of HPS we aim to fill this need.

This innovative comprehensive care provided in communities near the people, currently in Mayaguez and Ponce, will give those with HPS in Puerto Rico a chance to access specialists knowledgeable of their condition. In addition, lives will be greatly impacted by a healthcare coordinator who can establish a trusting relationship with the HPS community, facilitate care, and monitor health.  This will encourage families to take an active role in their own healthcare and play an important role in meaningfully improving health outcomes.

The HPS Multidisciplinary Clinic was first launched in 2016 in Puerto Rico. During the last eight years we have served hundreds of families trying to manage Hermansky-Pudlak Syndrome. We have also recently launched the Albinism International Databank (AID). We are still developing the process of enhancing the quality of care for this rare community. We are proud of what we have accomplished but eager to continue iterating on the design.

These innovative elements combine to create a comprehensive sustainable and scalable solution that significantly improves the lives of individuals with HPS in Puerto Rico while also contributing to broader global efforts to understand and treat this rare disorder. By implementing this comprehensive solution, we aim to significantly improve the health and quality of life for individuals with HPS while providing a model for other rare diseases that can be adapted and replicated in other regions all around the world facing similar challenges.

The HPS clinics with new innovative care coordination will be tailored to the unique needs of the HPS population in Puerto Rico incorporating advanced diagnostic tools, personalized treatment plans, and ongoing management strategies. This customization addresses the specific challenges faced by this community, which general health care settings overlook.

Additionally, because HPS is a rare disorder, opportunities to gather data to improve treatment for everyone affected around the world are precious. The genetic founder effect in Puerto Rico means that the best place to collect this data is on the island so that everyone can benefit. Eventually, other more common disorders such as Crohn’s disease or pulmonary fibrosis may also someday benefit from this knowledge. 

Our limited financial resources are a barrier to the advancement of our pilot solution. This AMGEN Prize will allow us to better serve our HPS community in a more equitable way by overcoming health care disparities. The HPS community experiences challenges with access to treatment due to underdiagnosis, limited experts, language and financial barriers when accessing lung transplantation on the mainland, participation in clinical trials and transportation hurdles because of their legal blindness. Their homeland is besieged by environmental catastrophes such as hurricanes and earthquakes.

By hiring a trusted, local care management coordinator, and creating and distributing comprehensive educational materials for patients and caregivers, including guides on managing HPS and available resources will help the HPS Network support this underserved population overcome these inequities. The grant funding will be strategically used to support the specialized HPS clinics, enhance health care provider training, improve access to essential care, support data collection and research and advocate for better healthcare. By addressing these critical areas, we aim to significantly improve the care and quality of life for individuals with HPS in Puerto Rico. 

Donna Appell, who is the mother of a daughter with HPS1 and founder of the HPS Network and the team are proximate leaders and are well placed to see this solution to fruition. Our team includes experts in the field of HPS as well as patients with HPS who have a strong and direct connection to Puerto Rico as most of them are native to the island and have a deep understanding of the local healthcare landscape and cultural context. This connection ensures that our solutions are culturally sensitive and tailored to the unique needs of the HPS Puerto Rican population. The HPS Network has been working on the ground in Puerto Rico for 30 years and has developed a strong, well identified cohort of HPS families, physicians and researchers. Since 2016, we have been supporting the HPS Multidisciplinary Clinics in Puerto Rico and have recently included research with data and biospecimen collections.

As a team with specialized medical expertise, deep local knowledge, multidisciplinary approaches, a commitment to research, strong advocacy skills, and robust project management experience, we are uniquely positioned to design and deliver an effective solution for individuals with HPS in Puerto Rico. We are dedicated to improving healthcare outcomes and quality of life for this underserved population through our comprehensive, innovative approach.

Our impact goals for the first year of this innovative project are:

• Build capacity: Hire and train a care management coordinator.
• Engage community: organize the records and recommendations of 60 patients who have attended the clinics
• Improve health access and outcome for Individuals with HPS: coordinate attendance (travel) up to 60 patients and caregivers to attend the clinics, and distribute patient education materials
• Enhance the research program: assist with the enrollment of up to 100 patients in the Albinism International Databank
• Assist training opportunities for young medical students and clinicians: 30 medical students and clinicians volunteer at clinics

Our impact goals over the next 5 years for this innovative project are:

• Build capacity: to build the infrastructure that would allow us to reach 10% more individuals in even more remote areas per year
• Engage community: assist with facilitating 5 outreach events on the island to enroll more patients
• Improve health access and outcome for Individuals with HPS: 100% of clinic participants have received follow up notifications
• Enhance the research program: share data for analysis and publications
• Create training opportunities for young clinicians: continue to assist with these training opportunities

This patient care coordination solution will lead to tangible improvements in health outcomes and healthcare system efficiency in Puerto Rico. In order to achieve this goal, funding is needed to: increase capacity, facilitate communication and information sharing between healthcare providers, and provide informational resources. This would enable us to tailor individual care plans to meet unique patient needs. Enrollment in the Albinism International Databank would provide research data to ultimately enhance the standard of care on the island. This project assumes that more efficient care management will lead to better health outcomes and a more satisfying patient experience. 

Our solution team includes 3 part-time staff at the HPS Network Inc. and in Puerto Rico the team includes 1 part-time staff, 11 healthcare volunteers.

The HPS multidisciplinary clinics have been running for the past 8 years. Lessons learned have taught us that we need to support communication between the patients and physicians and the physicians with each other. For the last two years we have tried to increase efficiency by distributing plastic folders, this obviously needs to change.  

We include diversity, equity and inclusion plans in everything we do. HPS has a Founder Effect on the island of Puerto Rico; therefore, approximately 75% of our organization is comprised of individuals of Puerto Rican descent that engage with us directly from the island and the diaspora where we work closely. Some speak English as a second language and many only speak Spanish. We do a great deal to accommodate their inclusion regarding language and disability (legal blindness), by making everything bi-lingual and visually accommodating.

Our solution team consists of leaders and advisors comprised of our diverse stakeholders. We are honored to have team members from underrepresented populations with whom we have created professional relationships through the years, especially in Latin America. We provide annual bilingual CME programming and host the HPS Clinic in Puerto Rico which enables us to have a meaningful partnership with the clinicians we are working with. We are proud that many of them are women and take a vital role in the clinics. Also, mentors are encouraged to bring their laboratory and early career professionals that are interested in HPS research. While the HPS Network office is located in New York, we work remotely so everyone can be equally involved including our team members in Puerto Rico.

Our board members are made up men and women with diverse backgrounds. We have Conflict of Interest, Confidentiality Agreement and Sexual and Racial Discrimination policies that are in our governance that we firmly adhere to.

We were proud to have hosted the first bi-lingual Patient Focused Drug Development meeting in 2022 in front of the FDA. Additional accomplishments included the HPS Network receiving the 2014 Inaugural Innovation in Health Equity Award from the American Thoracic Society for our work in Puerto Rico and in 2009 the Senate of Puerto Rico presented the Resolución del Senado Núm. 239 for aiding families with HPS in Puerto Rico.

On several occasions we have been asked to speak on Diversity Equity and Inclusion practices for nonprofits most recently with the Chan Zuckerburg Initiative.     

The Hermansky-Pudlak Syndrome (HPS) Network is a nonprofit organization dedicated to supporting individuals affected by Hermansky-Pudlak Syndrome and promoting research and awareness about the condition. Its business model includes the following key components: Fundraising: The HPS Network raises funds through various channels, including donations from individuals, grants from foundations, fundraising events, and corporate sponsorships. These funds are crucial for supporting our programs and initiatives. Research Support: Our organization allocates funds to support scientific research aimed at understanding Hermansky-Pudlak Syndrome better and finding potential treatments or cures. This may include funding for research projects, recruiting for clinical trials, and partnering with research institutions. We host a unique and innovative program called “We’re Drawn Together” at our conference to collect specimens and foster research. Advocacy and Awareness: We engage in advocacy efforts to raise awareness about Hermansky-Pudlak Syndrome among the general public, healthcare professionals, and policymakers. This includes educational campaigns, informational materials, and participation in relevant conferences and events. Patient Support Services: We provide various support services to individuals, caregivers and families affected by HPS. These services include monthly support groups in English and Spanish for adults and families with HPS, educational resources, and assistance with navigating healthcare management. Community Building: Our organization fosters a sense of community and fellowship among those affected by the syndrome by organizing events, conferences, and online forums where patients and families can connect, share experiences, and support each other. Partnerships and Collaborations: We collaborate with other nonprofits, medical institutions, researchers, and advocacy groups to further our mission. We are deeply involved with national organizations such as the American Thoracic Society (ATS) and the National Organization for Albinism and Hyperpigmentation (NOAH). These partnerships help amplify our efforts and extend our reach. Our business model revolves around leveraging donations, grants, and partnerships to fund its core activities focused on research, support, advocacy, and community building for those affected by Hermansky-Pudlak Syndrome.

Our plan for remaining financially stable is evidenced by our celebration of our 30th year in business. We rely on a diversified portfolio of donations from our committed membership, member hosted fundraisers, and grants. We received in 2019 a grant from the Chan Zuckerburg Initiative proudly becoming an inaugural member of their Rare As One cohort. We will continue to work diligently by applying for grants, seeking funding opportunities including foundations, and government assistance. We are also eager to accept sponsorship by industry when appropriate. We pay a great deal of attention to sustainability by having hired a part-time Director of Development in 2022 (underpaid but truly appreciated).