Dr. Roman awarded Doctor of the Year by HPS Network

Dr. Jesse Roman was awarded the Doctor of the Year Award at the 24th Annual Hermansky-Pudlak Syndrome Network Conference, held March 10 – 12 at the Long Island Marriott in Uniondale, N.Y.

Dr. Roman is a Professor of Medicine, Pharmacology and Toxicology at the University Of Louisville School Of Medicine. He is also Chairman of the Department of Medicine, Chief of the Division of Pulmonary, Critical Care and Sleep Disorders Medicine and a Distinguished University Scholar. Dr. Roman has taken on helping patients with Hermansky-Pudlak Syndrome as a personal cause. He lead the way by reaching out to contacts and partners in Puerto Rico to establish a clinic for patients with HPS in Puerto Rico. He is originally from Puerto Rico, where he attended medical school at the University of Puerto Rico and did his residency at San Juan Veterans Affairs Medical Center. He also completed a fellowship at Washington University.

 

Power Pro Wrestling and Klein Supporters Dare to be Rare

Amber Klein, and her dad Jeff, once again sold Dare to be Rare merchandise at the Power Pro Wrestling event, held at the Ellendale Fire Company in Ellendale, Del. on June 17th. Amber and her dad have worked in partnership with Power Pro Wrestling for many years to raise money for the HPS Network. At this event, they sold t-shirts and had a donation jar available for anyone not wanting to make a purchase, but eager to help fund the cure for HPS.

HPS Network supports OPEN Act legislation

The HPS Network is one of more than 220 patient organizations urging Congress to pass the Orphan Products Extension Now Accelerating Cures and Treatments Act (OPEN Act). This legislation would offer incentives to pharmaceutical companies to repurpose existing drugs to treat often life-threatening rare diseases by giving them an extra six months exclusivity for an FDA approved drug or biological product when it is FDA approved for a new indication. It is estimated the legislation could expand the number of FDA approved treatments for rare diseases by hundreds. Currently, many treatments for rare diseases are off label and thus can’t always be covered by insurance. To tell your Congressional representatives to support this legislation (H.R. 1223), go to: http://rareadvocates.org/everylife-foundation-urges-advocates-members-congress-co-sponsor-open-act/

Mangiafico runs Boston Run to Remember for Hermansky-Pudlak Syndrome

Liliana Mangiafico, a long-time supporter of the HPS Network and those affected by Hermansky-Pudlak Syndrome, ran the Boston Run to Remember May 28th to raise funds and awareness for HPS. Mangiafico has run the same race several years for the HPS Network and has used her skills as an attorney to be a great resource for patients with HPS and concerns regarding social security disability. She learned about the HPS Network through a colleague at work, Carmen Camacho. We, as a community, are grateful for her support.

HPS Network attends Mount Sinai / CHOP ribbon cutting

Donna Appell, President and CEO of the HPS Network, and Ashley Appell, an adult with HPS, were on hand for the new joint Fetal Medicine Program created between the Children’s Hospital of Philadelphia (CHOP) and Mount Sinai hospitals. The hospitals also have an alliance for pediatric cardiac and oncology services. Both medical institutions are also home to bowel research on Hermansky-Pudlak Syndrome. The ribbon cutting was held at its new facility at the Mount Sinai Annenberg Building.

The new program will provide mothers who have fetuses that may be at risk a “one-stop” experience for diagnostic evaluation and consultation. Multiple tests can be done during a one-day visit. Families can also meet with a team of experts from both Mount Sinai and CHOP to discuss diagnosis and potential treatments. Diagnostic testing will be done at Mount Sinai Hospital and images will be read by fetal imaging experts at CHOP.

HPS Network presents Grand Rounds at Metropolitan Hospital

Donna Appell, President and CEO of the HPS Network, and Ashley Appell, an adult with HPS, presented Grand Rounds to pediatric and genetics staff at New York’s Metropolitan Hospital on Friday, June 2, 2017. Donna Appell explained the basics of Hermansky-Pudlak Syndrome (HPS), caring for patients with HPS and how to identify a patient with HPS who might not be aware they are affected by the syndrome. Ashley Appell answered questions from those in attendance about her experiences living with HPS every day. “Metropolitan Hospital did an awesome job with Rare Disease Day last year and that is how we connected with them,” said Donna Appell, “We are looking forward to working with them on Rare Disease Day in 2018.”

Deadline approaching for HPS/ATS research grant

Letters of Interest for the American Thoracic Society Foundation and Hermansky-Pudlak Syndrome Network Partnership research grant are due June 6th. LOI submission forms, and more information about the grant, can be found at: https://www.thoracic.org/professionals/research/research-program-portfolio/partner-grants-loi.php.

The grant offers $40,000 per year for two years to an investigator interested in research that is directly relevant to the pulmonary fibrosis of Hermansky-Pudlak Syndrome. Grant submissions should have a high likelihood of advancing the understanding of HPS lung disease.

Single lung transplant reported in Spain at American Thoracic Society

Doctors from Spain attended the International American Thoracic Society meeting, held in Washington DC, May 19 – 24th and presented an abstract case report of a single lung transplant in a 49-year-old male with Hermansky-Pudlak Syndrome. The transplant was conducted a year and a half ago, and the patient is doing well. The HPS Network was able to meet with these doctors, and they reported having a second patient with HPS and mild pulmonary fibrosis who is 72 years old. This patient will not be a candidate for lung transplant. The physicians seemed very willing to share information with these patients about the HPS Network and encourage them to contact us. Hopefully, they will join our community soon.

Knowledge of these cases can be so helpful in furthering HPS research and offering hope to all those affected by HPS. It is further evidence to support why it is so important for those with HPS to register with the HPS Network, no matter where in the world they live.

Single lung transplant reported in Spain at American Thoracic Society

Doctors from Spain attended the International American Thoracic Society meeting, held in Washington DC, May 19 – 24th and presented an abstract case report of a single lung transplant in a 49-year-old male with Hermansky-Pudlak Syndrome. The transplant was conducted a year and a half ago, and the patient is doing well. The HPS Network was able to meet with these doctors, and they reported having a second patient with HPS and mild pulmonary fibrosis who is 72 years old. This patient will not be a candidate for lung transplant. The physicians seemed very willing to share information with these patients about the HPS Network and encourage them to contact us. Hopefully, they will join our community soon.

Knowledge of these cases can be so helpful in furthering HPS research and offering hope to all those affected by HPS. It is further evidence to support why it is so important for those with HPS to register with the HPS Network, no matter where in the world they live.

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