Rare Disease Workgroup Appointment

Ashley Appell has been appointed to New York’s Rare Disease Workgroup.

Ashley was selected to serve as a patient advocate. She will express patient concerns and goals to the workshop group. The group will then advise New York Assembly representatives regarding public policies that touch patients and families impacted by rare diseases. The group is also comprised of other stakeholders including caregivers and providers. Appell will serve through 2024.



Pharma listens to the HPS story

Donna Appell, Executive Director and Founder of the HPS Network, delivered a presentation about Hermansky-Pudlak Syndrome and the HPS Network to the 2022 Corporate Meeting of the American Thoracic Society (ATS). The meeting is attended by representatives of the pharmaceutical industry. She spoke about how the willingness of the ATS to work with patient organizations moved HPS research forward. “Looking back over the 27-year history of the HPS Network, we were fortunate to have a relationship with ATS. The research we’ve been able to fund through partnering with the ATS has been important to move research on our very rare disease,” said Donna Appell.



Monthly Virtual Events

Mark your calendars to join us monthly for our virtual events!

The information on all upcoming meetings can be found on our virtual events page

Links to all events are included in our member emails.  If you aren’t receiving them or want to become a member, please email us at info@hpsnetwork.org


Dysregulated Myosin in HPS lung fibroblasts

Subject: Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility – PubMed

Researchers continue to study pulmonary fibrosis in the HPS population.  Myosin is a protein that has a role in muscle contraction. Increased levels are found in pulmonary fibrosis of HPS1. In vivo (using Zebrafish), Losartan (drug used to lower blood pressure) decreases Myosin and movement of HPS lung fibroblasts which contributes to the development of pulmonary fibrosis. This research has immeasurable value to our community.

Flavia's Journal Club

EL-PFDD Meeting held on June 10, 2022

June 10, 2022 More than 250 individuals participated in our long awaited Day in the Life Event. If you were a part of the meeting, THANK YOU! 

If you weren’t able to participate that day, you can still watch the recorded meeting as well as submit your comments.  We will continue to collect your comments through July 10th.

We will be hard at work pulling together all we heard into a Voice of the Patient Report which we will make available to the FDA and all our members later this year. 

You can watch the recording of the event in English or Spanish on our EL-PFDD page. 

Special Strain of Mice to Study Human Disease

Research continues as shown by this article. A murine model(special strain of mice to study human disease) has been developed for the study of HPS pulmonary fibrosis. A different mode of putting Bleomycin ( a chemotherapeutic antibiotic) into the mice model was performed and showed to be successful. This mode slowed down the progression of pulmonary fibrosis enabling researchers to better study the mechanism of lung disease in HPS which will help lead to a therapeutic treatment.

Click to View May 4, 2022 Article

Special Strain of Mice to Study Human Disease

Research continues as shown by this article. A murine model(special strain of mice to study human disease) has been developed for the study of HPS pulmonary fibrosis. A different mode of putting Bleomycin ( a chemotherapeutic antibiotic) into the mice model was performed and showed to be successful. This mode slowed down the progression of pulmonary fibrosis enabling researchers to better study the mechanism of lung disease in HPS which will help lead to a therapeutic treatment.

May 4, 2022 Article

Flavia's Journal Club

Update on Medical Device Nonvisual Accessibility Act (H.R. 4853)

Progress has been made finding co-sponsors for the Medical Device Nonvisual Accessibility Act (H.R. 4853). The National Federation of the Blind, the organization leading the effort on this bill, held their annual Hill Day and were able to generate some results. Now, we need to focus on congressional representatives who serve on the Energy and Commerce Committee. This is where the bill will go next. We need everyone to contact their representatives and encourage them to co-sponsor the bill, but this list is particularly strategically important right now. If you see your representative on the list, please make a special effort to call them.


Gary Palmer (AL-06)

Debbie Lesko (AZ-08)

Gus Bilirakis (FL-12)

Neal Dunn (FL-02)

Buddy Carter (GA-01)

Adam Kinzinger (IL-16)

Larry Bucshon (IN-08)

Greg Pence (IN-06)

Brett Guthrie (KY-02)

Steve Scalise (LA-01)

Fred Upton (MI-06)

Tim Walberg (MI-07)

Billy Long (MO-07)

Richard Hudson (NC-08)

Kelly Armstrong (ND-00)

Robert Latta (OH-05)

Bill Johnson (OH-06)

Markwayne Mullin (OK-02)


Not sure what to say if you call? Try this:

“Hello, my name is [YOUR NAME], and I am a constituent of [REPRESENTATIVE NAME]. I live in [CITY, STATE]. I would like to urge [REPRESENTATIVE NAME] to cosponsor the Medical Device Nonvisual Accessibility Act, H.R. 4853. This legislation would ensure that blind Americans can have the same opportunity to independently monitor their various medical needs and care for themselves as other nondisabled Americans, thereby making us more self-sufficient and less reliant on others for our medical care.


You can contact your member of Congress by calling the Capitol Switchboard and asking for the office in question. The number is 202-224-3121.


Want to learn more about the bill? This fact sheet is taken from the NFB’s website:

Medical devices with a digital interface are becoming more prevalent and less accessible for blind Americans. The rapid proliferation of advanced technology is undeniable. Most new models of medical devices, such as glucose and blood pressure monitors, along with the emergence of in-home devices that offer medical care options, such as chemotherapy treatments and dialysis, require consumers to interact with a digital display or other interfaces. This new technology has been and continues to be developed and deployed without nonvisual accessibility as an integral part of the design phase, which creates a modern-day barrier. The inaccessibility of these medical devices is not a mere inconvenience; if accessibility for blind consumers is omitted from the medical technology landscape, the health, safety, and independence of blind Americans will be in imminent danger.

Telehealth currently makes up 20 percent of all medical visits, and more healthcare providers are looking to expand telemedicine services.1 Unfortunately, these visits assume that a person has easy access to accessible medical devices in order to take their own vitals. As a result of inaccessibility, blind and low-vision Americans are at a distinct disadvantage when it comes to receiving the same virtual healthcare as their sighted counterparts.

Nonvisual access is achievable, as demonstrated by a number of mainstream products. Apple has incorporated VoiceOver (a text-to-speech function) into all of their products, making iPhones, Macbooks and Mac desktops, and iPads fully accessible to blind people right out of the box. Virtually all ATMs manufactured in the United States are accessible, and every polling place is required to have a nonvisually accessible voting machine. Frequently, a simple audio output or vibrotactile feature can make a product accessible at little to no additional cost for manufacturers.

Current disability laws are not able to keep up with advancements due to the expeditious evolution of medical technology and its incorporation into medical devices. Although the Americans with Disabilities Act and other laws require physical accessibility for people with disabilities (e.g., wheelchair ramps, Braille in public buildings), no laws protect the blind consumer’s right to access medical devices. The National Council on Disability concluded that accessibility standards lag behind the rapid pace of technology, which can interfere with technology access.2 This trend of inaccessibility will continue if accessibility solutions are ignored. Only a fraction of medical device manufacturers has incorporated nonvisual access standards into their product design, while others continue to resist these solutions.

Solution—Medical Device Nonvisual Accessibility Act (H.R. 4853):

Calls on the Food and Drug Administration (FDA) to promulgate nonvisual accessibility standards for Class II and Class III medical devices. The FDA will consult with stakeholders with disabilities and manufacturers and issue a notice of proposed rulemaking no later than twelve months after the date of enactment of the act. No later than 24 months after the date of enactment of the act, the FDA will publish the final rule including the nonvisual accessibility standards.

Requires manufacturers of Class II and Class III medical devices to make their products nonvisually accessible. Manufacturers will have twelve months following the publication of the final rule to ensure that all of the Class II and Class III medical devices they produce are nonvisually accessible.

Authorizes the FDA to enforce the nonvisual access standards for Class II and Class III medical devices. Any manufactured device found to be out of compliance, whether by a public complaint to the FDA or by an independent FDA investigation, will be considered an adulterated product under the Federal Food, Drug, and Cosmetic Act.


Cosponsor the Medical Device Nonvisual Accessibility Act (H.R. 4853)

To cosponsor H.R. 4853 contact:
Gidget Benitez, Health Policy Counsel, Rep. Jan Schakowsky (D-IL-09)
Phone: 202-225-2111, Email: gidget.benitez@mail.house.gov

For more information, contact:
Jesa Medders, National Federation of the Blind
Phone: 410-659-9314, extension 2207, Email: jmedders@nfb.org


Give thanks where thanks is due. Thank these representatives for being among the first to cosponsor this bill:

Rep. Grijalva, Raúl M. [D-AZ-3]

Rep. Kirkpatrick, Ann [D-AZ-2]

Rep. Aguilar, Pete [D-CA-31]

Rep. Bass, Karen [D-CA-37]

Rep. Chu, Judy [D-CA-27]

Rep. Costa, Jim [D-CA-16]

Rep. Cárdenas, Tony [D-CA-29]

Rep. Garamendi, John [D-CA-3]

Rep. Harder, Josh [D-CA-10]

Rep. Lee, Barbara [D-CA-13]

Rep. Lieu, Ted [D-CA-33]

Rep. Panetta, Jimmy [D-CA-20]

Rep. Sánchez, Linda T. [D-CA-38]

Rep. Vargas, Juan [D-CA-51]

Rep. Neguse, Joe [D-CO-2]

Rep. Hayes, Jahana [D-CT-5]

Rep. Soto, Darren [D-FL-9]

Rep. Wasserman Schultz, Debbie [D-FL-23]

Rep. Bishop, Sanford D., Jr. [D-GA-2]

Rep. McBath, Lucy [D-GA-6]

Rep. Scott, David [D-GA-13]

Rep. Casten, Sean [D-IL-6]

Rep. Davis, Danny K. [D-IL-7]

Rep. Krishnamoorthi, Raja [D-IL-8]

Rep. Newman, Marie [D-IL-3]

Rep. Mrvan, Frank J. [D-IN-1]

Rep. Axne, Cynthia [D-IA-3]

Rep. Yarmuth, John A. [D-KY-3]

Rep. Mfume, Kweisi [D-MD-7]

Rep. Raskin, Jamie [D-MD-8]

Rep. Lynch, Stephen F. [D-MA-8]

Rep. Tlaib, Rashida [D-MI-13]

Rep. Bacon, Don [R-NE-2]

Rep. Pappas, Chris [D-NH-1]

Rep. Payne, Donald M., Jr. [D-NJ-10]

Rep. Sherrill, Mikie [D-NJ-11]

Rep. Morelle, Joseph D. [D-NY-25]

Rep. Butterfield, G. K. [D-NC-1]

Rep. Ross, Deborah K. [D-NC-2]

Rep. DeFazio, Peter A. [D-OR-4]

Rep. Langevin, James R. [D-RI-2]

Rep. Veasey, Marc A. [D-TX-33]

Rep. Connolly, Gerald E. [D-VA-11]

Rep. Herrera Beutler, Jaime [R-WA-3]

Rep. Smith, Adam [D-WA-9]

Rep. Kind, Ron [D-WI-3]

Rep. Pocan, Mark [D-WI-2]

Update on Speeding up New Therapies and the FDA

As we continue to gather each year for our conferences, we most definitely can say that we are an HPS family, that makes up quite a heartfelt, and inspired community! Our community has also been part of other community organizations that are working together to strive for a cure for HPS, and all Rare Diseases. We feel very thankful to be able to work with these brother/sister organizations.  They assist us in finding out the latest information, and updates on what all of us within the Rare Disease Community need to work on, to implement the next steps to take to strive for the best future we can aspire to!

Every so often, we are all called to Action to advocate, and/or be part of signing letters to highlight specific focus on policies that will help the needs of all of us with Rare Diseases.   

This week, our Call to Action for our communities, to our executive directors, has been to focus on an Accelerated Approval Pathway that is an initiative to bolster the FDA in helping to fast-track development of therapies for Rare Diseases and other associated conditions.  

A letter that was sent to us, written by NORD (National Organization for Rare Disorders) states: 

“The accelerated approval pathway exists to help patients where there is urgent and unmet need. This applies to most of the estimated 25-30 million Americans living with rare diseases. Fewer than 10% of the approximate 7,000 rare diseases have an FDA-approved treatment. Last summer, NORD released a white paper with several recommendations for how to strengthen and improve the accelerated approval pathway, not weaken it. As the Department of Health and Human Services (HHS) considers various proposals limiting patient access to safe and effective accelerated approval drugs, we urge Congress to act now to help rare disease patients.” 

The call to Action that was proposed was for the Executive Directors of HPS, and Rare Disease Community organizations to sign two types of letters that would support the strengthening of the Accelerated Approval Pathway:  

NORD writes:

“The first letter is directed toward Congressional leadership asking them to incorporate several policy recommendations that NORD believes would strengthen accelerated approval into legislation to reauthorize the Prescription Drug User Fee Act (PDUFA).”    

“The second letter is directed towards HHS Secretary Becerra, urging the Secretary to support efforts underway within Congress and the FDA to reform and strengthen the accelerated approval pathway and reject policies that could limit patient access to rare disease therapies that utilize accelerated approval.”  

In learning so much more about various policies that we have been advocating for through the years (even though we can often feel perplexed and overwhelmed about our political system) there is still so much within our political system that does relate to our mission for HPS and Rare Diseases. Though it can be hard to find a sense of hope at times, whether through our journeys, or everything that happens around us, may our sights never lose faith on change that can happen, that can be positive! Stay Tuned for more information, updates, and ways to stay involved through our whole website, and our Advocacy page!

For more information on this topic, and to check out another organization that are working on policy and advocacy for Rare Diseases, check out: https://rarediseases.org/ 

Any other Advocacy related questions please contact Ashley Appell at: ashley@hpsnetwork.org