What’s Your Story?

The EveryLife Foundation for Rare Diseases launched What’s Your Story?, an online rare disease story bank for advocates like you to share your experiences on a wide-range of issues impacting the rare disease community.

What’s Your Story? presents a series of questions covering topics ranging from difficulty in getting diagnosed to challenges in gaining access to therapies, to facing discrimination in the workplace and more.  You are also invited to upload photos and videos that help illustrate your rare disease journey.  Advocates of any age are welcome to submit stories.

Stories submitted through What’s Your Story? will help advance rare disease policy priorities through ongoing advocacy efforts to advance the equitable development of and access to lifesaving diagnoses, treatments, and cures.  Submissions may be shared during meetings with Members of Congress or with the public via social media, online or in the press.

Visit the What’s Your Story? story bank to learn more and submit your story.

The STAT Act

The Speeding Therapy Access Today, or STAT Act, H.R. 1730/S. 670, is a bipartisan bill that was created with the input of the rare disease community aimed at improving the development of and access to therapies for the rare disease community. The centerpiece of the STAT Act is the creation of a Rare Disease Center of Excellence at the US Food and Drug Administration. The STAT Act will:

• Accelerate rare disease therapy development,
• Optimize interagency coordination,
• Advance science-based regulatory policies, and
• Facilitate access to therapies.

Learn more at StatAct.org.

For those who currently live in Pennsylvania

PA patients need the right medicine at the right time!

Step therapy, often called “fail first,” is a process that requires patients to take one or more alternative medications chosen by their insurer before permitting patients to access the medicine originally prescribed by their provider. Senate Bill 225 (SB 225) would help ensure prescription drug decisions are kept between a provider and their patient and would create quicker, more efficient prior authorization and step therapy processes.  

Reach out to your Senator today and ask them to support SB 225 to help patients get the right treatment at the right time. 

NonVision Accessibility Act

Ask Congress to Support the Safe Step Act (H.R. 2163/S.464)

Step therapy, often called “fail first,” is a process that requires patients to take one or more alternative medications chosen by their insurer before permitting patients to access the medicine prescribed by their health care provider. H.R. 2163 and S. 464 would protect rare disease patients in federally regulated health insurance plans by establishing an exemption process, requiring certain exceptions to the step therapy protocols and requiring a time frame for plans to respond to exception or appeal requests. Contact your legislators today to ask them to cosponsor this important legislation!

Giving Tuesday, November 30, 2021

An event NOT to be missed!  Whether it’s doing an act of kindness, speaking out for a cause that matters to you, or donating to a favorite nonprofit, every act of generosity counts and each means more when we give together…this is the spirit of Giving Tuesday.  Stay tuned to this page for a full day of entertainment!  Our leadership team is all in for a day of fun!  As we reach our donation goals the videos promised will be posted here.

Thank you for 10 donations!

Thank you for 15 donations!

Thank you for 20 donations!

Thank you for 25 donations!

Thank you for 30 donations!

Thank you for 35 donations!

Thank you for 40 donations!

Thank you for 45 donations!

Thank you for 50 donations!

Virtual Christmas Concert, December 4, 2021 at 7:30pm ET

We Saved the Best for Last and You’re Invited!

The 20th Anniversary HPS Benefit Christmas Concert will take place virtually again this year.  Minimum donation for the concert link is $50.  Send in your donation to the network with a note that you would like to attend the concert or go to our online donation page for the event:

Christmas Concert Donation Page


Medical Device Nonvisual Accessibility Act introduced in the U.S. House of Representatives

U.S House of Representative Jan Schakowsky (D) IL introduced H.R. 4853, the Medical Device Nonvisual Accessibility Act to the U.S. Congress. The bill calls upon the Food and Drug Administration to promulgate non-visual accessibility standards for Class II and Class III medical devices with digital displays. Some examples of these items include oximeters, thermometers, CPAP machines and diabetic readers. Once the FDA has created the regulations, manufacturers will have a year to comply.

If you would like to support this legislation, please ask your own Congressional representative to co-sponsor the bill.

If you are not sure who your representative is, you can look up using your zip code here: https://www.house.gov/representatives

The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

This article is a review of lysosome-related organelles.  They are specialized structures within a cell that have specific jobs to perform.  These organelles are involved in coloring in eyes and skin, hemostasis (stopping of bleeding), and lung function.  In HPS they do not function normally or are entirely absent.  Researchers continue to understand lysosome-related organelles and search intensively for treatment options.


Flavia's Journal Club