Twelve people with HPS or their direct family/caregivers are taking part in focus groups to help refine an HPS symptom scale tool. The tool is a collaboration of the National Institutes of Health and the HPS Network. It will help quantify which symptoms of HPS affect one’s quality of life the most through the progression of the disorder.
While if one is living with HPS it might seem obvious which symptoms are most impactful in day-to-day life, it’s helpful for researchers to have data to back up what they are anecdotally told by the community.
The tool will reflect the input of people with HPS as well as caregivers for people with HPS from childhood to adulthood. It will also include input from any HPS gene types.
The focus groups are helping researchers refine the tool. Once that is done, they will survey the entire HPS community. It will be vital to have maximum participation of the community during this step to make the tool, and the data, is most useful to researchers. Be on the lookout for invitations to participate in this project.
The project will not only help move research, but in the future it may prove useful when seeking FDA approval for a therapy.
HPS Network Responds to Urgent COVID19 Need with a gratitude campaign of online giving, Joining #GivingTuesdayNow in Global Day of Giving and Unity.
We hope that this message finds you all safe during these trying times. We realize that while we may all be in the same storm, we may be in different boats. We want to ensure our supporters that our commitment to our mission of finding a cure for Hermansky-Pudlak Syndrome has not waned, and that important work continues, even during a pandemic.
Giving will be done in an online fundraiser as well as direct donations to our website, HPS Network. A 7 day countdown will begin, culminating with the day of giving on Tuesday May 5, 2020. The HPS Network is responding to meet the needs of our population, who are particularly susceptible to the effects of COVID-19, as they are by any respiratory illness. The novel coronavirus presents a particular challenge because so little is known about its long term effects on the lungs. We hope to foster goodwill by expressing our gratitude, even in these challenging times and hope that if you can support our cause you will. We are all in this together!
#GivingTuesdayNow is a global day of giving and unity, set to take place on May 5, 2020 as an emergency response to the unprecedented need caused by COVID-19. The day is designed to drive an influx of generosity, citizen engagement, business and philanthropy activation, and support for communities and nonprofits around the world.
At a time when we are all experiencing the pandemic, generosity is what brings people of all races, faiths, and political views together across the globe. Generosity gives everyone power to make a positive change in the lives of others and is a fundamental value anyone can act on. It’s a day for everyone around the world to stand together and give back in all ways, no matter who or where we are.
Like many non-profits during this time, we have had to cancel multiple in person fundraisers due to the necessity to keep our population safe. We also had to cancel our annual conference this past March. Yet, as always, the work continues. We continue to work virtually with all members of our staff and volunteers. We continue to prepare to be research ready. We have also hosted virtual meet ups with our members to maintain our sense of community and to keep everyone up to do date on the workings of the HPS Network.
As our founder and Executive Director Donna Appell loves to quote, “It’s not about waiting for the storm to pass, it’s about learning to dance in the rain.”
Please consider making an emergency donation to the HPS Network, so that we may continue our mission and continue to support our members. We may be rare, but we are mighty! A cure for us means a possible cure for many of the ailments that afflict those in the general population. We thank you from the bottom of our lungs!
The HPS Network is closely monitoring the rapidly evolving developments regarding COVID-19. The World Health Organization has officially declared COVID-19 as a pandemic. Read our PDF for more details.
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.
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: https://www.surveymonkey.com/r/8BP2H9W
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, 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: https://www.hpsnetwork.org/27th-annual-hps-network-conference/.
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.
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.
The HPS Network visited the Kotton Lab in Framingham, Mass in July to learn more about how the lab is using stem cells derived from the blood of people with HPS to find clues to treat the lung disease of HPS. The lab collected blood samples at the HPS Conference two years ago. The Kotton Lab is known the world over for their stem cell work on a variety of lung diseases. While there, the visitors from the HPS Network learned more about induced pluripotent stem cells, the process to coax them to develop into the desired cell type to be studied and how that process helps researchers understand the lung disease of HPS better. They also got to see some of these cells in the microscope!
The HPS team that was able to visit the lab included: Donna and Ashley Appell, Frankie Feliciano and Carmen Camacho.
Dr. Kotton explained that being able to grow new lungs from stem cells, or even repair damaged tissue, is still a long way away now. Still, the lab is learning much more about what may go wrong in the development of various lung cells in people with HPS. This may help researchers identify new therapeutic targets for future therapies.