HPS Network acquires donor management platform

The HPS Network has acquired a donor management platform, DonorView, as part of the grant award from CZI (Chan Zuckerberg Initiative). The platform will not only help us manage and communicate with our donors more efficiently, but it offers a variety of tools that will help us more efficiently communicate with membership on a wide variety of topics. It also offers fundraising tools that can be used by members and improved online registration for HPS Network events.

We will gradually roll out some of these changes as we learn this new system in the office. It is also very important to make sure the HPS Network has updated contact information to reach you including a current e-mail address, and a mobile phone number (if you would like to receive text alerts in the future.) Please send updated contact information to: info@hpsnetwork.org.

Appell speaks to Blue Cross/Blue Shield employees

Donna Appell, President and Executive Director of the HPS Network, joined two other panelists on a company-wide webinar for Blue Cross/Blue Shield as part of its Rare Disease Webinar Series: Patient and Family Perspectives.
Appell explained HPS to the audience, and then explained why covering genetic testing for HPS is so important. “I can’t know if it will make it easier for families affected by HPS to get tested, but I hope that we were heard, and maybe next time, when another family needs an approval they might just remember this talk.”

NORD offers Convid-19 financial assistance program

The National Organization for Rare Disorders (NORD), based in Washington DC, has launched a CONVID 19 Critical Relief Program for those with rare diseases. The financial relief program will help meet non-medical, yet critical, expenses. These expenses may include items such as: rent or mortgage expenses, unexpected utility expenses or emergency auto repair.
Eligible recipients could receive grants up to $1,000. To learn more, or to apply for the program, call: (203) 242-0497 or e-mail CONVID19assistance@rarediseases.org.

HPS Network partners with NIH to create symptom scale tool

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.

Giving Tuesday Now

HPS Network Responds to Urgent COVID19 Need with a gratitude campaign of online giving, Joining #GivingTuesdayNow in Global Day of Giving and Unity.

Go Fund Me Donation Page for Giving Tuesday Now

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!

Click Here to Donate!

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:  https://www.surveymonkey.com/r/8BP2H9W

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: https://www.hpsnetwork.org/27th-annual-hps-network-conference/.