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

RAREis Scholarship

Pursue Your Dreams through the #RAREis Scholarship Fund

The #RAREis Scholarship Fund was established in 2020 to help young adults with rare diseases to pursue their dreams through education. Thanks to the support of the #RAREis program by Horizon Therapeutics, The EveryLife Foundation is pleased to announce its third year of the #RAREis Scholarship Fund, a scholarship dedicated to the rare disease community. The #RAREis Scholarship Fund will award up to 53 $5,000 scholarships for the Fall 2022 semester. The scholarship application is open today, March 18 through April 22, 2022 at rarescholarship.org

The #RAREis Scholarship is available to applicants who are:

  • Over the age of 17
  • Residents of the United States
  • Diagnosed by a physician as having any form of rare disease regardless of treatment status. Undiagnosed patients are also encouraged to apply. 
  • Must be planning to enroll full-time or part-time in undergraduate or graduate study at an accredited two- or four-year college, university, or vocational-technical/trade school for the Fall 2022 semester. There is no minimum amount of credit hours to be part-time

March 2022 Advocacy Update

Rare Disease Day has been brought to the public’s attention since 2008, but even before this day came to be there have been so many initiatives that the HPS Network, and the Rare Disease Community have been advocating for, and standing behind!  One of the biggest asks that we’ve been voicing, is a Bill that focuses on Appropriations for the NIH and other Institutions that work with them, like the FDA, CDC, along with many others.

With continuously changing political needs, The Omnibus Appropriations for the FY 21, and FY 22 Bill has been one of the most important asks voiced by us and the Rare Disease Community! This Legislation is a documented budget that these institutions will have to keep research, safety, oversight, as well as the ability to approve various therapies and vaccines for our nation and the world going.

Just this last week various news sources that work with the research community have been reporting that our Seventh Wonder of the World (these bills) are in high gear as both the House and the Senate are making strides to move this ask forward!

As sources that support Researchers write:

“Research!America applauds Congress for developing the bipartisan Consolidated Appropriations Act, 2022. Among many critically important provisions, the Omnibus appropriations legislation provides much needed FY22 funding increases for NIH, CDC, FDA, AHRQ, BARDA, and NSF, funds a breakthrough innovation incubator.”

As reported, some of the outcomes that are expected to come with the previous FY 21, and into the FY 22 year are:   

National Institutes of Health- NIH

“By providing an increase of $2.25 billion to the core budget of the NIH (5.3% over FY21), this agreement reaffirms strong bipartisan support in Congress for empowering life-saving research in every state across our nation.”  

“The American public agrees: A January 2022 survey commissioned by Research!America found that more than 8 in 10 Americans (83%) across party lines agreed the federal government should fund basic scientific research that advances the frontiers of knowledge.”

Food and Drug Administration- FDA

“Research!America is gratified to see a $102 million increase (3.2% over FY21) for FDA. “  

“The ever-increasing list of public health responsibilities FDA fulfills directly affects the health and safety of Americans.”

“On a bipartisan basis, members of Congress responded to the need for more funding, and we look forward to working with the Administration and Congress to assure robust resources for this agency going forward.”  

Centers for Disease Control and Prevention- CDC  

The bill provides an increase of $582 million for the CDC (7.4% over FY21). The CDC is our nation’s front line — not only against pandemics, but against the opioid crisis, antibiotic-resistant “superbugs,” disparities in health and health care, and everyday threats to communities nationwide.”  

“The funding increase is a down payment that will begin the revitalization of an agency that has faced years of inadequate funding, bolstering its capacity to address a range of public health threats and potential global crises.”    

Policy Makers that have been reported to support this Legislation:  

We are grateful to House Appropriations Committee and Labor-HHS Subcommittee Chair Rosa DeLauro (D-CT), House Appropriations Committee Ranking Member Kay Granger (R-TX), and Labor-HHS Subcommittee Ranking Member Tom Cole (R-OK); as well as Senate Appropriations Committee Chair Patrick Leahy (D-VT) and Ranking Member Richard Shelby (R-AL); and Senate Labor-HHS Appropriations Subcommittee Chair Patty Murray (D-WA) and Ranking Member Roy Blunt (R-MO) for their leadership in prioritizing vital medical research and public health investments at the Department of Health and Human Services.”  

The HPS Network, and all who are in the Rare Disease Community are so thankful for what the NIH and all the affiliating agencies do for us to strive for a cure, and a better quality of life for all in the future to come! We are very thankful for the outcome of this Legislation, and what it is providing!  Every couple of years these asks, and the whole outcome of this budget itself can keep changing– depending on political goals. We always need more voices to thank and advocate for all who assist us in attaining a better quality of life for all! It takes both resolve and numbers! Together with the strength that we all have as an HPS community, we can move mountains! This is such great news to find out, but we also need to continuously keep the momentum going! May we always keep being part of the solution and a clear voice within our political arena in whatever way we can!  

For more information about those mentioned in this source, or questions about Appropriations and Legislation that is happening, please contact ashley@hpsnetwork.org!

Join Us on June 10, 2022

Mark your calendars to join us and make HPS history advocating for future treatments. The HPS Network will host an Externally-Led Patient Focused Drug Development meeting on June 10, 2022. This meeting will be open to the public, with speakers and attendees attending virtually. It is a day devoted entirely to listening to and learning from patients and caregivers of people living with HPS.

Many of the attendees listening will be medical product reviewers working for the FDA who want to have a better understanding of HPS to help them make the best decisions when evaluating future treatments. These reviewers have a great responsibility to weigh the benefits of a treatment vs the risks side effects might pose to patients. For example, would an improved sunscreen that did away with sunburns entirely be worth the risk of developing skin cancer down the road? Some would view current treatments as good enough and others would think it is worth the risk. Likewise, how much does vision, bleeding, bowel, or lung disease impact your daily life? These are the voices WE will be presenting: the voices of those with HPS and their families.

It is vitally important to have as many individuals with HPS and family caregivers as possible attend this meeting. On the day of the meeting, there will be the opportunity to participate in live polling and either call in or write in to join the discussion. The all-day meeting will then be summarized into a “Voice of the Patient” report that will be publicly available.

Please mark your calendar for June 10, 2022, from 10am to 3pm EST “A Day in the Life” and come help us make history! Details on how to attend the meeting will be posted as soon as available.

HPS Network awarded an additional $150,000 grant

The HPS Network was awarded a $150,000 grant on January 31, 2022, as part of the Rare As One (RAO) Network, a program of the Chan Zuckerberg Initiative (CZI).  The HPS Network is currently completing a two-year grant from CZI.  The first grant has allowed the Network to engage in initiatives we once could have only dreamed of.  This third year of funding will allow the Network to continue to strengthen infrastructure as we support research and our programs.  

“We are thrilled with, yet another opportunity provided by the CZI Rare As One Network!  Not only does it help provide funding, but RAO has also helped provide technical expertise and mentors,” says Donna Appell, Executive Director of the HPS Network.