Congressmen Andre Carson (D-IN) and Ryan Costello, (R-PA) have introduced the Rare disease Advancement, Research and Education Act (H.R.5115) to the U.S. House of Representatives. The HPS Network has joined more than 100 other patient organizations and the National Organization for Rare Disorders, in support of the legislation.
The Rare Act of 2018 would:
- Increase rare disease research funding at the National Institutes of Health (NIH) by authorizing an additional $10 million each year for the Rare Disease Clinical Research Network (RDCRN)
- Create new efforts to track and combat rare diseases at the Centers for Disease Control and Prevention (CDC) by creating the “National Rare Disease or Condition Surveillance System”
- Educate physicians on rare diseases through new programs at the Agency for Healthcare Research and Quality (AHRQ), and,
- Commission additional research on how to better incentivize rare disease therapeutic development.
A person with Hermansky-Pudlak Syndrome (HPS) was the first person to receive a lung transplant at NYU Langone Transplant Institute, a newly opened transplant program in New York City.
Wanda Cepeda received her double lung transplant Feb. 10th. Cepeda had been turned down by other centers in the region.
“I had been fighting this disease for years, trying to stay healthy for my husband and our two daughters, but I was losing hope,” says Cepeda. “Dr. Angel was the first to say he wouldn’t turn me away. I’m so grateful for him and Dr. Kon—my dream team—for allowing me to hope again.”
The Hermansky-Pudlak Syndrome Network (HPS Network) was awarded a Patient Advocacy Leadership Award by Sanofi Genzyme to support the Network’s “Individualized Research Plan” (IRP) project. To prepare for future recruitment into drug trials, the Network is working with its membership to develop individualized plans for research participation. The process helps to identify interest in research participation, provide information about current research participation opportunities and identify any barriers to participation as well as strategies to overcome them.
“We are so honored and grateful to receive this award,” says Donna Appell, Founder and Executive Director of the HPS Network, “To make research truly patient centered, we need to meet patients where they live and this program is meant to do just that. This support will allow us to increase our engagement and effectiveness as well as further perfect the Individualized Research Plan tool its self.”
Patients with Hermansky-Pudlak Syndrome interested in learning more about the “Individualized Research Plan” project and how they might participate should e-mail: firstname.lastname@example.org or call: (516) 922-4022.
The HPS Network is a 501©3 organization serving those affected by Hermansky-Pudlak Syndrome (HPS). HPS is a form of albinism that causes legal blindness, a bleeding disorder and in some types, digestive disease very similar to Crohn’s disease. It also causes pulmonary fibrosis, a fatal scarring of the lungs, in types 1, 2 and 4.
Sanofi Genzyme’s Global Patient Advocacy team launched the Patient Advocacy Leadership (PAL) Awards grants program in 2011 to encourage bold new ideas and programs to support the Lysosomal Storage Disorder (LSD) community worldwide. The PAL Awards program funds innovative projects focused on disease awareness and education, community mobilization, non-profit development, and patient care and support programs to allow organizations to begin new efforts to address unmet needs in their local LSD patient community.
The American Thoracic Society (ATS), the Hermansky-Pudlak Syndrome Network (HPS Network) and the San Juan City Hospital Puerto Rico will offer a free one-day educational seminar for patients affected by Hermansky-Pudlak Syndrome, their families and health care providers.
The event will be held Saturday, April 21st from 9:00 am to 3:00 pm at the Sheraton Puerto Rico Hotel, 200 Convention Blvd, San Juan PR 0090. A light breakfast and complimentary lunch will be served. To RSVP, e-mail Donna Appell at email@example.com or to register in Spanish, call 1 855 754-1040. Please register by Monday, April 16, 2018. Not able to attend in person? Sign up to attend via Webinar at: https://register.gotowebinar.com/register/5794862074816665090
The HPS Network, a non-profit patient organization serving families affected by Hermansky-Pudlak Syndrome (HPS) added 48 new people with HPS to its registry between March 2017 and March 2018 as part of its Hundred People Search (H.P.S.) campaign. The HPS Network often assists families and their physicians access diagnostic testing, and provides education and other support services after diagnosis.
“We never want anyone to test positive for HPS,” says Heather Kirkwood, Director of Communications, “But if someone has HPS, we want them to get an accurate diagnosis and information they need to stay as healthy as possible. It can literally be a life and death matter.” The Hundred People Search campaign is a yearly effort to encourage members and friends of the HPS community to outreach in their communities to identify others who might need testing or access to other services.
HPS is a rare disorder, thus identifying 100 new patients in a year is usually not likely. Even so, statistically, there are still hundreds in the United States alone who are either not diagnosed, or are not benefiting from being part of the HPS Network patient registry.
“A lot of work is being done to identify better treatments and one day, a cure for HPS. As progress is made, we want to be able to find the people with HPS that would benefit. What good is working for a cure if you then can’t find the people who need it?” says Kirkwood.
If you have HPS, and would like to be included in the HPS Network’s patient registry, or you’d simply like more information about HPS, call: (516) 922-4022.
Dr. Lisa Young, Associate Professor of Pediatrics, Medicine and Cell Biology at Vanderbilt University, will give an update on the HPS Centers through the Rare Lung Disease Consortium, as well as about her lab’s research, March 11, 2018 at the HPS Network Conference.
Lisa Young, M.D., is a physician-scientist focusing on research in genetic and interstitial lung diseases (ILD). Dr. Young’s research lab utilizes both laboratory-based and patient-oriented research approaches to study interstitial lung diseases and other rare lung diseases in both adults and children.
Her lab’s primary interest is in the role of the alveolar epithelium and alveolar macrophages in the regulation of pulmonary inflammation and fibrosis. They utilize genetic mouse models to understand the cell biology and mechanisms of ILD pathogenesis. They also maintain a longitudinal research cohort of children with ILD and other rare lung diseases.
Currently her lab is looking at mechanisms of Pulmonary Fibrosis in Hermansky-Pudlak Syndrome (HPS) The lab’s studies utilize mouse models to understand what causes pulmonary fibrosis in HPS and how new therapies might be developed. Their hypothesis is that HPS trafficking defects in alveolar epithelial cells result in increased reactive oxygen species production and enhanced secretion of mediators, which recruit and activate alveolar macrophages in the local microenvironment. They also study how these mechanisms apply to other more common forms of ILD.
The HPS Network is waving registration fees for the 25th Annual HPS Network Conference, to be held March 9 – 11, 2018 at the Long Island Marriott in Uniondale, N.Y. for families that live in Puerto Rico and come to the conference. Registration fees include: meals from Friday dinner to Sunday lunch, childcare and conference materials. For more information call (516) 922 4022 or e-mail: firstname.lastname@example.org.
The HPS Network is grateful to our Capital Campaign donors who made this year’s campaign the most successful yet! Like most non-profits, the HPS Network mails an annual request for donations to help support our work. The response this year was the best ever. “There are not words enough to say thank you to our supporters. Their generosity is what makes it possible for us to keep helping families get an accurate diagnosis, to help families affected by HPS and to continue to drive research forward,” says Heather Kirkwood, Vice President of the HPS Network.
For the past year, in celebration of the 25th Annual HPS Network Conference, members have collected their silver in change jars at home, and at local businesses. Renee McEvoy, CFO of the HPS Network, is asking that everyone send in the revenue from their change jars now to start to pay Network bills for conference. Thanks to everyone who participated in this project!!!!
Oyster Bay, N.Y. The Hermansky-Pudlak Syndrome (HPS) Network will hold its 25th Annual Conference March 9 – 11, 2018 at the Long Island Marriott in Uniondale, N.Y. HPS is a type of albinism that involves low vision (usually legal blindness), a bleeding disorder, and in some cases, bowel disease very similar to Crohn’s disease. Depending on the gene involved, it may also cause pulmonary fibrosis or a scarring of the lungs. Although it occurs around the world in all ethnic groups, it’s most common among people of Puerto Rican ancestry.
The HPS Conference allows families affected by the syndrome to meet others as well as hear from the world’s leading experts on the syndrome. Sessions include both fun activities as well as serious topics on how to manage living with HPS. Some of the sessions include:
- Pre-conference workshop for mothers of children with HPS.
- HPS 101 – a overview of the basics of HPS for new families, or those that need a refresher.
- GI Wish I Felt Better – a chance for those affected with the bowel disease of HPS to hear about new research and network with peers.
- Managing the bleeding of HPS – a session presented by a hematologist familiar with HPS.
- Stand Up and Be Heard – an overview of legislative issues of importance to the HPS community as well as tips on how to get involved and be an advocate.
- Women’s Health – an overview of the unique medical issues experienced by women with HPS given by an OBGYN experienced in helping women with HPS.
- Social Aspects of Raising a Child with Albinism
- Information about preparing for lung transplantation
- A Top Chef-style cooking contest
- Zumba classes
- Information about Orientation and Mobility
Sunday’s program focuses on current research about HPS and includes speakers such as:
- William Gahl, Clinical Director of the National Human Genome Research Institute
- Kostas Alysandratos, a fellow at Boston University’s Center for Regenerative Medicine, who will speak about stem cell research.
- Lisa Young, an HPS researcher at Vanderbilt University, who will give an update on the growing number of HPS Centers as well as HPS research.
- Samuel Seward, one of the only physicians with a clinical practice for those with HPS, who will speak about the HPS Standard of Care.
To register or to learn about conference scholarship opportunities, contact the HPS Network at: (516) 922-4022 or e-mail: email@example.com.
The HPS Network is a 501(c)3 organization serving families affected by Hermansky-Pudlak Syndrome or HPS.