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.

Join the HPS Network for patient day at the American Thoracic Society

A group from the HPS Network will be attending Meet the Experts, a patient program held at the American Thoracic Society by the Public Advisory Roundtable. This year’s theme will be “The Role of Patients in Advancing Treatments and Cures.” The seminar will be held Saturday, May 20, 2017 from 10:00 am to 2:00 pm at the Renaissance Washington DC Hotel, 999 9th St. NW in Washington DC. Parking validation, lunch and complimentary oxygen will be provided.

Sessions will be about various aspects of participating in research. After lunch, the audience will break up into different groups to discuss their particular disease state. The HPS Network will not have a physician expert this year, but will meet with anyone interested in Hermansky-Pudlak Syndrome and discuss the research needs of our community.

To RSVP contact the HPS Network office at (516) 922-4022 or e-mail: info:hpsnetwork.org.

Bag it for the Cure

Becky Nieves, a mother of a child with HPS and a board member of the HPS Network, is hosting an online fundraiser for the HPS Network with Mixed Bag Designs. Need a beach bag for a summer trip, or a backpack for the fall? Check out these colorful and stylish bags. Buy one for Mother’s Day and stuff it with great goodies for your mom! Fundraiser ends April 30th. http://www.mixedbagdesigns.com/?fundraiserid=661284

First Mothers’ Workshop held at the HPS Network Conference

 

The first afternoon-long Mothers’ Workshop was held at the 24th Annual HPS Network Conference at the Long Island Marriott in Uniondale, N.Y. in March. The workshop was hosted by Sheila Adamo, LCSW, CADC, a licensed clinical social worker who has conducted similar workshops for other groups of mothers of children with disabilities. The workshop covered issues of interest to the moms of kids affected by HPS such as, how to explain and interact with extended family about concerns related to HPS, how to deal with different reactions in the family to having a child with HPS and how moms can support one another along the journey.

 

“This was the first time we’ve had a workshop like this, and it was an opportunity that came along only shortly before the conference, but it was well receive and I think we will do something similar in the future again,” said Heather Kirkwood, COO and Director of Communications, as well as a member of the conference planning committee.”

 

“The workshop was long enough it gave us time to get to know one another. We were able to get comfortable and have a great discussion,” said Becky Nieves, mother of a child with HPS and a member of the HPS Network Board of Directors. “Not having the men there gave us a chance to be more vulnerable.”

Adamo, who ran the workshop, is a mother of four, one of whom, has albinism. She has a business called Building Parent Connections. Its mission is to help parents build a strong authentic connection to themselves and others while raising a child with special needs.

 

 

 

 

Hermansky-Pudlak Syndrome Network to attend American Thoracic Society International Meeting

The Hermansky-Pudlak Syndrome Network (HPS Network) will attend, and exhibit at, the American Thoracic Society’s International Meeting May 19 – 24th in Washington DC. The meeting attracts more than 16,000 respiratory medicine physicians, scientists, clinical researchers and other related health care professionals from more than 90 countries. More than 6,700 abstracts and case reports are expected to be presented. More than 800 presenters are expected to present clinical research and best practice findings at more than 500 sessions. The HPS Network will be one of 200 exhibitors in the exhibit hall and will work to build awareness of the syndrome in the respiratory community.

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Phone: 1 (800) 789-9HPS
Email: info@hpsnetwork.org

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