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.
The theme of the 2020 HPS Network Conference will be “Our Vision 2020”. Join us on March 13-15, 2020 at the Long Island Marriott in Uniondale, NY to learn more about living with HPS, updates on medical research, fellowship with others walking in the same shoes and, well, just a lot of fun! Save the date on your calendar. We will update you further as more plans develop.
The Brantner family manned an HPS Network booth at the Annual Clinical Genetics Meeting, April 1-2, 2019 in Seattle. They spoke with people working directly with patients in genetics departments across the country about HPS, how to test for HPS and the services offered by the HPS Network. Kylee Brantner stole the show at the booth as she expertly explained HPS to conference attendees and offered them cookies. (HPS booths typically feature cookies to illustrate the lack of delta dense bodies on HPS platelets.) “Sometimes people would stop by the booth and one of us would start to explain HPS, and they would stop us and ask to hear it from Kylee,” says Kristen Brantner, Kylee’s mom and a board member of the HPS Network. “We actually had some of the conference attendees tweeting us to compliment Kylee on what a great job she did explaining the syndrome,” says Heather Kirkwood, Vice President and Director of Communications of the HPS Network, who manages HPS Network social media and communications. “She really did make an impact on them, and that’s great!”
Join the Rodriguez family for their first annual HPS awareness and fundraising event, Aug. 17, in Sparta Township, NJ. The Rodriguez has one-year-old identical twin girls with HPS. Thirty percent of proceeds will go to the HPS Network, and the rest will go toward any current or future medical needs for Brooke and Brielle. The event will have a buffet dinner, DJ and cash bar. Auction baskets will also be at the event. Doors will open at 3:00 pm. To buy tickets or learn more, go to: https://www.eventbrite.com/e/1st-annual-hermansky-pudlak-syndrome-awareness-charity-event-tickets-64232988598
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.