Be a part of the Million Dollar Bike Ride!
The HPS Network will have cyclists participating in the Million Dollar Bike Ride at Highline Park in Philadelphia on June 8th, 2019. The ride is hosted by the Penn Medicine Orphan Disease Center. Cyclists raise money to support their rare disease organizations. If you’d like to support our riders, you can donate at: https://www.hpsnetwork.org/million-dollar-bike-ride-2019/ Stay tuned for more information about our riders!
The first annual HPS Awareness Day went above and beyond expectations on April 6th, 2019 as people impacted by HPS around the world took advantage of the day to host fundraisers as well as generate awareness through social media activism.
Some fundraisers were online events through facebook or online t-shirt sales, but some were in-person events such as a pizza party, a movie night and a lemonade stand.
The day was conceived by Kristen Brantner, a board member of the HPS Network as well as the mother of two children with HPS. Sometimes it is hard to bring up the subject or ask friends and family for donations, but having a day makes it easier to talk about HPS.
An awareness ribbon and facebook frame was created by Cassandra Mendez Ocasio and used by many in their social media advocacy on the day. The ribbon is red with black polka dots to represent the delta dense bodies missing from the platelets of everyone with HPS.
Genetic counseling students interning at the HPS Network office created a mascot for the Network that is a ladybug with sunglasses and dubbed, HPShady. People around the world sent in selfies showing off the polka dots they were wearing on HPS Awareness Day.
Approximately $25,000 was raised for HPS on or near the day. The impact was global with participants from all over the US and Puerto Rico as well as places such as France, Turkey, Columbia and Germany.
A record number of researchers attended the 5th Annual Meeting of the Minds scientific meeting, held March 9 – 10 at the HPS Network Conference. In all 46 physicians and scientists, all working on various aspects of research related to Hermansky-Pudlak Syndrome, gathered to share findings and plot future goals.
“It was amazing to watch so many great minds together,” said Donna Appell, Executive Director and Founder of the HPS Network, “It is exciting how quickly this meeting has grown, and how much work these great minds are getting done toward finding better treatments, and someday, the cure.”
For the first time, 11 scientific posters were presented at the meeting, a tradition the scientists intend to carry forward.
Session one of the meeting addressed the gastrointestinal complications of HPS. Dr. Gochuico from the National Human Genome Research Institute, presented about the clinical and pathological findings among people affected by HPS seen at the National Institutes of Health as part of the natural history study. Professor Holm Uhlig from Oxford University in England presented about defective antimicrobial autophagy caused by HPS genetic variants and its relevance for inflammatory bowel disease.
The second session addressed pre-clinical models of pulmonary fibrosis in HPS. Dr. Jonathan Kropski spoke about new insights into genetic risk in familial interstitial pneumonia. Dr. Michael Marks from the University of Pennsylvania talked about AP-3 and BLOC complex functions in protein sorting to melanosomes. Dr. Ross Summer from Thomas Jefferson University in Pennsylvania talked about increased matrix metalloproteinase activity as a marker of HPS lung disease. Dr. Freddy Romero, also from Thomas Jefferson University, talked about hyperactivation of the 26S proteasome in the lung epithelium of HPS type 2 mice. Dr. Susan Guttentag of Vanderbilt University spoke about re-energizing interest in HPS 1 function in lung epithelium. Dr. Hans-Willem Snoeck of Columbia University in New York spoke about modeling HPS-associated pulmonary fibrosis using pluripotent stem cell-derived lung organoids.
The third session of the day focused on therapeutics for HPS and planning the next Meeting of the Minds in 2020. Melissa Lokugamage from Georgia Institute of Technology spoke about drug delivery vehicles using DNA barcoding. Dr. Yang Zhou from Brown University presented about targeting CRTH2 receptor in HPS lung disease. Dr. Resat Cinar from the National Institutes of Health’s National Institute on Alcohol Abuse and Alcoholism gave an update on the project to use MRI-1867 as a candidate drug for HPS pulmonary fibrosis. Dr. Christian Mueller from the University of Massachusetts gave a presentation about the meeting held regarding gene therapy for HPS in December, 2018 as well as potential strategies to develop gene therapy for HPS going forward.
“Sometimes as a patient it can seem like nothing is happening. That’s because you want the cure now and that’s not how finding cures works. But, since I was diagnosed with HPS in 2002, so much has happened in research,” says Heather Kirkwood, Vice President and Director of Communications for the HPS Network, “Now we, as the patient community, the patient family, have to do what we can to keep helping our researchers push onward toward our goal.”
Attendees at the 26th Annual HPS Network Conference, held in Uniondale NY in March, created a video to wish the National Heart, Lung and Blood Institute (NHLBI) at the National Institutes of Health a happy 50th anniversary. NHLBI was pleased with the video and plans to use it at various events throughout the year. If you wish to follow the NHLBI through its 50th anniversary year, follow the hashtag #lung50. If you’d like to see the video, go to: https://youtu.be/1C1wwPzdeYY
On April 9th Heather Kirkwood and MaryAnn Canter, two people with HPS that live in the greater Washington DC area, attended a special reception for NHLBI on Capitol Hill. Besides a few congressional representatives and staffers, there were a number of NHLBI employees at the event. NHLBI showed the video at their staff celebration event. “It was really sweet that several of the NHLBI staff that were at that event came up to MaryAnn and I to tell us how much they loved the video,” says Heather Kirkwood, “I think they’ll remember the HPS Network!”
Global Genes and the Rare Compassion project are teaming up to match patients and families affected by a rare disease with medical students eager to understand our lives better. If you would be willing to share your HPS story, the ups and downs and real day-to-day experiences, then this might be an outreach volunteer experience for you!
The project takes applications from patients all year, and matches medical students with patients quarterly based on geographical proximity. Because the number of students and rare disease patients might not always match up, you are not guaranteed to get a match.
If you volunteer to participate, the project will expect you to:
- Introduce yourself and make regular contact with your student match by phone, e-mail or in-person visits
- Actively engage with your student and share about your daily life diagnostic journey and medical experiences
- Take time to ask questions of your student and learn about the challenges and obstacles they face in medical education or in the medical field
- Work with your student to determine how long your engagement will last
- Always treat your student with respect and courtesy.
To learn more or apply, go to: GlobalGenes.org/Cox-Scholarship/
The HPS Network and the American Thoracic Society (ATS) are partnering to offer a Patient Education Day April 27th in Carolina, Puerto Rico. The event will offer information about the pulmonary fibrosis of HPS as well as many other aspects of living with Hermansky-Pudlak Syndrome.
The event will be held from 8:00 pm to 4:00 pm at the Courtyard by Marriott Isla Verde Beach Resort, 7012 Calle Avenue Boca de Cangrejos. To register, call: 1 (855) 754-1040.
A book illustrated by kids at the 26th Annual HPS Network Conference, under the organization, leadership and help of Sandra and Cassandra Mendez, is now available as an incentive for a $25 or more donation. What Makes Me Unique, Makes Me Rare can be obtained at: https://www.facebook.com/donate/397702131047949/10205561629716855/
The kids and teenagers attending the conference illustrated what they felt made them rare, and then Cassandra Mendez wrote the words and made the digital copy. Her mom, Sandra Mendez, organized the project and obtained a grant from Thrivent Financial’s Action Team to offset costs associated with the project.
The book explains what a rare disease is, how children find common ground in their uniqueness and how kids with HPS celebrate and find strength in being rare.
Attending conference can we a whirlwind of events. If you didn’t get a chance to complete the conference survey while you were at the conference, you can do it now online. Completing the survey helps us improve the conference in the future. It also helps us collect data we need to try to attract grant funding and sponsorships to offset costs. Please complete the survey here: https://www.surveymonkey.com/r/conferencesurvey
The HPS Network and community celebrated togetherness at the 26th Annual HPS Network Conference, held March 8 – 10, 2019 at the Long Island Marriott in Uniondale, NY. Themed, “Life is Sweet When We Are Together” the event attracted approximately 300 people affected by the Hermansky-Pudlak Syndrome (HPS) type of albinism, their families, physicians, interested researchers and supporters.
Attendees shared stories about living with HPS, listened to medical experts explain key points of the standard of care for someone with HPS, explored various ways to become better advocates, got updates on the latest HPS research and spent time simply having fun together.
Mothers with children affected by HPS kicked off the weekend with the Mother’s Workshop given by Sheila Adamo, LCSW, CADC. “As a mom, my favorite offering at the conference is the Mother’s Workshop. Sheila is an amazing facilitator, and having a safe space to talk about ourselves, our rare kiddos, and the different challenges moms face, is invaluable,” said Becky Nieves.
The rest of Friday was filled with sessions explaining the genetics of HPS, a legislative advocacy session and a special greeting for attendees and physicians from Puerto Rico. Finally, Donna Appell, Founder and Executive Director of the HPS Network, capped off the day with her annual Year in Review. It’s a chance for the HPS community to meet together and learn what the HPS Network has accomplished during the past year. Meanwhile, Friday evening, the kids held their annual HPS Dance Party and afterwards, family bingo games.
Saturday morning a time-honored HPS community tradition continued as everyone met for the “Family Album” – a chance to learn who is at the conference, what big event happened in their lives during the past year, and what they are looking forward to most in the coming year. Attendees remained together to watch a presentation given by Matt Bailey explaining how people with albinism see. “This was my favorite session,” says Que Quccm, “I loved that my mom got to really see and understand how I see.”
During the afternoon attendees chose from a variety of sessions ranging from laughter yoga to how to speak to children about their HPS.
In another area 46 researchers, all working to solve the mysteries of HPS and find better treatments, attended the Meeting of the Minds. They discussed subjects ranging from gene therapy for HPS, to other potential therapeutic targets to bioengineering technology that might one day help to deliver future treatments.
The children were treated to a visit from the Big Apple Circus on Saturday. They watched a private performance, and then had the chance to learn how to do some of the tricks in the act. They also got a visit from Dr. McStuffins who explained how easily germs can be transmitted and how to avoid getting sick. They also had a cupcake decorating contest and a pool party.
Saturday evening the community gathered for the “Sugar Ball,” the annual dinner. The HPS Singers provided entertainment in between eating and awards. Then, families and physicians danced the night away.
Sunday is traditionally the day when research and medical presentations are given. Attendees learned everything from the progress of HPS research to best practices for treating complications of HPS. One such presentation was given by Dr. Arlene Drack, an ophthalmologist from Iowa. “I loved Dr. Drack’s presentation. I love that she answered so many questions and that she was so supportive of us. I also loved that at the end of her talk, she told us she was here to stay.”
Other presentations included information about how to prepare for a lung transplant, how to handle bleeding complications and information about the gastrointestinal complications that can come with HPS.
“We all had tears in our eyes when we said our goodbyes. This group of strangers have become more than my friends – they are now my family,” said Jill Pounders, a first-time attendee.
Representatives Butterfield and Bilirakis introduced House Resolution 242 celebrating the success of the Orphan Drug Act and calling for continued support of the legislation. Before the legislation there were only 34 FDA approved treatments for a rare disease. Today there are more than 750 and counting. More than 90 percent of rare diseases are still waiting for an FDA approved treatment. Please ask your Congressional representatives to support the resolution.