National Institutes of Health gets $2.6 billion budget boost

On Dec. 20, 2019 President Trump signed into law a legislative package that, among many other national budget items, included a $2.6 billion, or 7 percent, budget increase for the National Institutes of Health (NIH) in 2020, as well as a $636 million budget increase for the Centers of Disease Control and Prevention (CDC) and a $91 million budget increase for the Food and Drug Administration (FDA). The increases at NIH are expected to be spread out among the institutes and centers.

The increases headed off proposed cuts and were the result of bipartisan negotiations.

The same bill also included language to require the Government Accountability Office (GAO) to conduct a study on the economic costs of untreated or undiagnosed rare diseases.

Take part in survey to help the rare disease community


The National Organization for Rare Disorders (NORD) is conducting a survey to collect data about the diagnosis and care of people with rare diseases. NORD first conducted the survey in 1989 and then again in 2003. This is a follow up survey to help NORD and policy makers better understand the needs and experiences of people with rare diseases. The survey takes approximately 5 to 10 minutes. To participate, go to:

Christmas Jazz raises money for the HPS Network

JoAnn Criblez and The Jingle Boys entertained an audience of HPS Network supporters at Jingles and Jazz, held Dec. 12 at the Tilles Center Atrium, Long Island University Post. The fundraiser to benefit the HPS Network featured a range of holiday favorites, mostly performed in a jazz style. Attendees also took part in a basket raffle and enjoyed holiday cookies and snacks.

The program also included special guest vocalist including: Ashley Appell, Natalie Diaz, Nina Cialone, Beatrix Postley and Lydia and Nitha Paulus.

The HPS Network is also grateful to the many sponsors that bought ads in the event program.


Sabrina Sakoda to speak about her work with the film RARE in Japan

Sabrina Sakoda, president and founder of Dream Bridge, will be at the 2020 HPS Network Conference to talk about her work screening RARE around Japan. Sakoda raised the money to have RARE, a documentary about a drug trial to treat Hermansky-Pudlak Syndrome, translated into Japanese. She didn’t stop there. She began looking for places to screen the film and so far has screened RARE around Japan at venues ranging from high schools to hospitals to pharmaceutical companies.

Sakoda named her non-profit in reference to a line in the film she found moving. After word went out to the trial participants that the study was ending, one of the participants, Elsie Gonzalez, told Dr. Gahl, the trial’s primary investigator,  she was worried about how he took the news. She told him that he shouldn’t feel as though he let us down because the trial gave us hope – that he was her dream maker. Thus, Sakoda named her non-profit Dream Bridge.

Come learn more about how Sakoda, her non-profit and the documentary RARE at the 2020 HPS Network Conference in Uniondale, NY. Learn more about the conference here:

HPS Network outreaches at 2019 American Thoracic Society International Meeting

A team from the HPS Network attended the American Thoracic Society (ATS) Annual Meeting, held May 17 – 22 in Dallas. The group was able to interact with more than 14,000 lung physicians, researchers, and representatives from pharmaceutical companies, at the HPS Network booth in the exhibit hall, and by attending some of the thousands of lecture sessions, scientific poster sessions and special events.

Donna Appell, Founder and Executive Director of the HPS Network, serves on the ATS Public Advisory Roundtable. She organized “speed dating” for early career physicians and researchers at ATS. Groups of five at a time came by each patient advocacy table and got a five-minute presentation about the disorder.

The HPS Network also held a reception for our researchers and physicians attending the meeting to give us all a chance to chat, network, discuss things we’d seen at the meeting that might be relevant to HPS and get to know each other better.

Numerous researchers presented scientific posters on their HPS-related research. Scientific poster sessions are much like a science fair for grownups. Giant ballrooms and meeting rooms are filled with rows and rows of bulletin boards. On each is a poster summarizing an experiment of one researcher, or research team. At appointed times, they stand by their posters and answer questions.

“It’s always exciting to me to look around the exhibition center and just take in how much research is being done on all aspects of lung diseases. Our own research might be a pebble in this sea of knowledge, but you never know what scientist, looking at something completely different, might have stumbled upon something that our researchers get excited about,” says Heather Kirkwood, “It makes me feel a little better as a patient to see so many brilliant people working to help us, and working to help everyone with lung disease around the world.”

The HPS Network team included: Donna and Ashley Appell, Carmen Camacho, Heather Kirkwood, Kristen Brantner and Candice and Crystal Sipe. Nancy Lee helped to prepare for the event, but was unable to attend because of the death of her sister.

HPS Network partners with the ATS Foundation to fund another cycle of HPS research grants

Thanks to the hard work of our members and donors, the HPS Network will be able to partner again with the American Thoracic Society (ATS) Foundation to fund another HPS research grant. The $40,000 per year runs for two years and is funded half by the HPS Network, and half by the ATS Foundation. The ATS Foundation also gives us valuable support and know-how to collect and manage grant proposals and have them evaluated by scientists to select the awardee.

Historically, these grants have been a fantastic investment for the HPS community. Besides the additional funding, some of the research that has significantly moved HPS research forward got its start through this program. Every researcher we have funded through this program is still researching HPS today.

Building Your Village: HPS Network Webinar

Save the Date!

Aug, 13, 2019 at 8:00 pm ET

There are lots of times when those of us impacted by HPS, whether we are people with HPS or caregivers, need our community support systems. They say it takes a village, and we need our villages to help us along the way. This webinar will provide information about community resources to look for as well as tips for building your own village, or even major metropolitan area, to better navigate living and thriving with HPS.  Come to listen, or share your own experiences.

Instructions on how to log in to the webinar will be available closer to the event. Look for directions on social media.

Funding the HPS Conference Focus Group

Save the Date!

Aug 14, 2019 at 8:00 pm ET

We’ve come a long way. Instead of looking for researchers and hoping they will be interested in HPS, we have some of the world’s leading minds in gene therapy and stem cell research working on HPS. We have promising candidate drugs that will hopefully soon advance to clinical trials. Now, we need to fund the conference. The conference isn’t just informative or fun. It’s the place where our researchers come together to compare notes and find ways to work together. It’s where we, the people with HPS, often give samples for research. It’s the place where we inspire the people we need to help us. And, for many of us, it’s the one place where we know we are not alone living with HPS.

We have spent a LOT of our budget this year to take advantage of research opportunities that came along, thus we are very, very short of funds for the HPS Conference. This webinar will be a focus group to gather ideas about fundraising, to learn what the Network can do to help our community fundraise or to get some practical how-to advice if you’ve got a fundraiser in mind. The more brains the better. Join us and help us create solutions. Stay tuned for details about how to log in closer to the Webinar.

Entries now open for the Rare Artist Awards

The Rare Artist Contest, sponsored by the EveryLife Foundation for Rare Diseases, is now taking submissions for its annual art contest featuring the work of artists with rare diseases, or their family, caregivers, friends, researchers or medical personnel. There are a variety of categories for kids as well as adults in a wide range of traditional or digital media.

Winners receive cash prizes as well as are invited to speak on Capitol Hill during Rare Disease Week.

To learn more, go to: