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.
This year the Hermansky-Pudlak Syndrome community is celebrating the first-ever Hermansky-Pudlak Syndrome Awareness Day! The day is devoted to generating awareness of the syndrome, as well as awareness of the problems we must overcome to find better treatments and a cure.
Keep checking the HPS Network social media for the launch of our awareness ribbon. We hope you will also support our online social media campaign.
The HPS Network’s facebook page is: https://www.facebook.com/hpsnetwork/
You can find us on Twitter at: @HPSNetwork
You can find us on Instagram at: HPS Network
The Puerto Rican Senate will hold a hearing to consider Bill 1127 that would make changes in coverage for those with Hermansky-Pudlak Syndrome (HPS) and other types of albinism that are insured by Reforma, the island’s public health care coverage.
Advocates for HPS on the island are asking supporters to attend the hearing on Feb. 12 at 9:00 am at the Annex of the Capitol. Hilda Cardona and Dr. Enid Rivera have advocated for this legislation that would, among other things:
- Extend catastrophic coverage for HPS to affected adults,
- Do away with the need for referrals before those affected by HPS can see relevant specialists such as hematologists or pulmonologists,
- Make it unnecessary to seek exemption from laws regarding car window tinting every single year since the need for those with HPS does not change.
For more information on how to participate in the event on Feb. 12th, call Hilda Cardona at: (301) 974-7108.
The National Organization for Albinism and Hypopigmentation (NOAH) announces that the application period for the Michael J. McGowan Leadership Scholarship is now open.
NOAH awards one scholarship annually to a NOAH member who:
- has albinism,
- resides in the U.S. or Canada, and
- is enrolled in an undergraduate program at a U.S. or Canadian institution of higher education.
The intent is to enhance educational opportunities for students with albinism while celebrating dedication and outstanding leadership qualities similar to those exhibited by NOAH’s current and past leaders.
The 2019 scholarship award is $3,000.
NOAH established the Michael J. McGowan Leadership Scholarship Award in 2008 to recognize leadership and empower young people with albinism. For more information, go to: https://www.albinism.org/leadership/
Dr. Souheil Y. El-Chemaly will give a presentation about lung transplantation at the 26th Annual HPS Network Conference, to be held March 8 – 10, 2019 at the Long Island Marriott in Uniondale, N.Y. Understanding the process of lung transplantation will help those with Hermansky-Pudlak Syndrome decide if this is the right option for them, as well as help them prepare for the process. Advanced planning can save time when time matters most.
Dr. El Chemaly is the Clinical Director of the Center for LAM Research and Clinical Care and a physician at Brigham and Women’s Hospital (BWH). He is also an Assistant Professor of Medicine at Harvard Medical School. His lab is also currently researching Hermansky-Pudlak Syndrome.
He received his medical degree from Saint Joseph University (Beirut, Lebanon). He then completed a residency in internal medicine at St. Luke’s-Roosevelt Hospital Center, a teaching affiliate of Columbia University College of Physicians and Surgeons. He also participated in two fellowship programs in pulmonary and critical care: the first at the National Heart and Lung Institute (now the National Heart, Lung, and Blood Institute), and the second at the Jackson Memorial Hospital. He is board certified in critical care medicine, internal medicine and pulmonary disease.
Dr. El-Chemaly’s clinical interests include interstitial lung disease, lung transplantation and lymphangioleiomyomatosis (LAM) and Hermansky-Pudlak Syndrome. His recent clinical research examines the impact of interstitial lung abnormalities on mortality and lymphatic vessel formation after lung transplantation. He has written over 30 peer-reviewed publications and has received funding from the National Institutes of Health.