NIH Symptom Scale Study



Our mission at the Network is to find a cure for HPS. This is the driving force behind all that we do. A cure is not possible without research and for that we need you!


We are reaching out to see if you would be interested in taking part in an NIH Symptom Scale Study. This study will be used to inform researchers about what problems and challenges are important to those living with HPS. It will ask how you are doing and explore your individual symptoms. This is vital in determining research priorities and possibly exposing needs not yet identified. Getting involved now will help us all become ready for research opportunities in the future.

In order to enroll in this study you need to have had your HPS diagnosis confirmed.
All types of HPS are needed.
Contact us at if you are unsure, and we will help you.


To be considered for the study, please answer the following questions:

How were you diagnosed with HPS?
Have you ever been to the NIH?
Are you now or have you ever taken pirfenidone?

Please send your answers in an email to us at along with your name, address and phone number.

The study can be done from home and it takes about 30 minutes. Please give us your full attention for that 30 minutes to help change lives. Be part of the solution!
Please send us your answers promptly.
Help us to help you and all the other HPS members.
Thank you in advance for making this effort a success!

Your HPS RESEARCH Support Team
Donna Appell, RN, Executive Director
Valerie Friedman, RN, Director of Medical Affairs
Hilda Cardona RN, Director of Affairs in Puerto Rico
Flavia Del Colle, PA-C, HPS Board of Directors
Carmen Camacho, LSW, HPS Board of Directors

Giving Tuesday

Giving Tuesday Zoom talk.  Please join us and view our latest Zoom talk in Youtube for more information.

Click here to see a Youtube video of the Zoom talk.



Giving Tuesday 2020

Giving Tuesday 2020 is fast approaching!

The HPS Network will be participating in Giving Tuesday this December 1, 2020. We understand these are challenging times, but the work of finding a cure does not stop! This year, we have a new software to make fundraising easier. Donorview allows you to create your own personalized fundraising page to share on social media and off social media. We are having a Zoom meeting to discuss strategy. A recording of the meeting will also be available. For any further information, please contact Becky Nieves at  or Kristen Brantner at

Recall of nasal DDAVP

Ferring US issued a voluntary recall of DDAVP nasal spray 10 mcg/0.1 mL, Desmopressin Acetate Nasal Spray 10 mcg/0.1 mL, STIMATE Nasal Spray 1.5 mg/mL because of superpotency.
Superpotency can cause low sodium levels that could result in seizures, coma or death. If you keep these medications on hand to treat bleeding, please check with your pharmacy to see if they are in the batches being recalled.
To read the company’s press release, go to: Recall

EveryLife Foundation establishes RAREis scholarship fund

The EveryLife Foundation is accepting applications for their new undergraduate/graduate scholarship program called RAREis. To qualify, students must be at least 17 years old and enrolled in a two-year, four-year or graduate level college program. Students can be enrolled full time or part time. Applicants will need their physician to fill out a verification of diagnosis form, so don’t wait until the last minute to apply.

The program plans to award up to 32 scholarships of $5,000. The deadline for the application is Aug. 28, 2020 at 3:00 pm ET. To learn more, go to: Scholarship

2020 Rare Artist Contest now accepting submissions

The 2020 Rare Artist Contest is open for business! Anyone connected to the rare disease community – patient, caregiver, friend, medical professional etc. – may enter the contest. There are different categories for children, teens and adults. Cash prizes are awarded and winners are invited to Washington DC when their work is displayed on Capitol Hill as part of Rare Disease Week. The goal of the contest is to generate awareness of rare diseases as well as celebrate the diverse talents in the rare disease community. To learn more about the contest, prizes or learn how to submit artwork, go to: RareArtist

New HPS gene identified

Researchers at the University of Bordeaux’s Molecular Genetics, Rare Disease, Genetics, Metabolism Lab report finding a new gene that causes the HPS type of albinism in the Journal of Genetics in Medicine. They found two individuals with the newly discovered gene, HPS 11.

The HPS 11 gene encodes to the protein complex BLOC 1. Other types of HPS that encode to protein complex BLOC 1 include HPS 7, 8 and 9. These are especially rare types of HPS with few known patients around the world.

Patient 1 is reported to be 20 years old and of French Flandish heritage. It appears patient one is a mild bleeder. Patient 2 is 39 years old and of Slovenian heritage. She has a more extensive bleeding history as well as a history of some infections. More study will be needed to determine with greater certainty which clinical features, besides albinism and a bleeding tendency, are associated with these rarer types of HPS.