Mother’s Workshop planned for this year’s HPS Conference

Mothers with children that have Hermansky-Pudlak Syndrome will be able to network with each other and learn how to handle the common issues that come up raising a child with HPS at the 24th Annual HPS Network Conference, to be held March 10 – 12, at the Long Island Marriott in Uniondale, NY. The workshop will be held March 10, from 2:00 pm to 6:00 pm. Friday is always an arrival day at the HPS Conference, so if you can’t make it by 2:00 pm then join the workshop when you arrive.

The workshop will consist of a presentation and small group discussion on the unique journey of parents raising a child with HPS. The presentation will outline the common stages parents experience while adapting to raising their child, and provide strategies and tools for parents and their families. The facilitated discussion will create an environment where parents with similar experiences will be able to learn and support one another. This time will be used to strengthen our power as mothers and open our minds and hearts so we can absorb all of the information that will be presented to us over this weekend.

The workshop is being provided to the HPS Network and community free of charge by Building Parent Connections. Sheila Adamo, LCSW, CADC will facilitate the presentation and discussion. Sheila is a Licensed Clinical Social Worker with an additional certification in Alcohol and Drug Abuse Counseling. She facilitates Mothers’ Workshops, discussion groups and teleconferences for parents of children with special needs. Sheila and her husband are raising 4 children, one of whom has albinism. She currently leads the New Parent Program for the National Organization of Albinism and Hypopigmentation, which includes a Parent Connections Program sponsored by The Lighthouse Guild International that offers support to parents via teleconference meetings. (The Lighthouse currently offers the same program for parents of those with Hermansky-Pudlak Syndrome too.) Ms. Adamo has worked with many different populations in the mental health field. Her passion is working with parents to help them find the tools they need to be successful.

Building Parent Connection’s mission is to help parents build a strong authentic connection to themselves and others while raising a child with special needs. Building Parent Connections believes that providing consistent support, education and guidance throughout parenthood will empower parents to be stronger, happier and healthier individuals and parents.

 

Fun activities planned for kids of all ages at the HPS Conference Kids Camp!

 

Kids attending Kids Camp at the HPS Conference, to be held at the Long Island Marriott in Uniondale, NY March 10 – 12 will have a plethora of fun activities to keep them busy while their parents attend conference sessions.

The HPS Kids Camp includes children with HPS, children of adults with HPS and often, the children of researchers and physicians presenting at the conference.

This year’s annual field trip (for kids 5 and up) will be to the Cradle of Aviation Museum near the hotel. While there, they will see an IMAX film called, Blast Off to Space, ride an old fashioned carousel, play games in a “historic” video game arcade, and get a private tour of the museum. Other activities during the weekend will include a treasure hunt, learning about treating cuts with Nurse Jessie at the McStuffins Clinic, Low Vision Bingo and the annual pool party. Kids under five will have their own activities and playroom. They will get a visit from the Fun Bus – a school bus renovated as a tumbles gym where they can play – and a special drumming activity. All the kids can join in the DJ Dance Party Friday night! Kids’ activities are included in their conference registration price.

Research on the GI issues of HPS to be discussed at 24th Annual Conference

 

 

A number of researchers working on the gastrointestinal issues of Hermansky-Pudlak Syndrome will join us at this year’s HPS Conference to discuss current and planned research projects. If approval is secured in time, some samples may be collected at the conference. If not, HPSers affected by the gastrointestinal complications of HPS will be able to learn how they might participate in upcoming research projects. They will also have a chance to network with other patients affected by the GI complications of HPS as well as speak with physicians that have experience treating the GI disease of Hermansky-Pudlak Syndrome. If you attend conference and have the GI complications of HPS, we request that you attend the Saturday session, “GI Wish I Felt Better” to be sure you are able to connect with these valuable resources.

Early bird hotel and registration extended

The early bird hotel and registration prices for the HPS Network Conference are extended until Valentine’s Day, Feb. 14. This year’s conference theme is “Tune In The Network.” The HPS Conference is a chance to meet other families affected by the HPS type of albinism, participate in educational sessions about how to manage HPS, meet medical experts on the syndrome and have a lot of fun! If you need a registration form, e-mail info@hspnetwork.org. To register for the hotel, go to: http://tinyurl.com/hps2017 The hotel block code is HRP. To network with others that plan to attend, go to: https://www.facebook.com/events/337681909906676/

Dr. Mueller to present about gene therapy at 24th Annual HPS Conference

Dr. Christian Mueller, Associate Professor in the Department of Pediatrics and in the Horae Gene Therapy Center at the University of Massachusetts Medical School will give a presentation on the basics of gene therapy at the 24th Annual HPS Network Conference, March 12 at the Long Island Marriott in Uniondale, N.Y. While there currently is not a gene therapy or gene therapy clinical trial for Hermansky-Pudlak Syndrome, scientists are working on potential gene therapies in the lab. Dr. Mueller will help educate the HPS community about what gene therapy really is, how it works and how it might one day benefit patients with Hermansky-Pudlak Syndrome.

Dr. Mueller holds a PhD in Genetics from the University of Florida. He subsequently completed his postdoctoral work as a Parker B Francis Fellow while working on his Master in Clinical Investigation at the University of Massachusetts Medical School. In 2011 he opened the Mueller Lab for Gene Therapy in the Horae Gene Therapy Center. The main focus of his lab is recombinant adeno-associated virus (rAAV)-mediated gene therapy for rare genetic diseases such as alpha-one antitrypsin deficiency (AATD), amyotrophic lateral sclerosis (ALS), and Huntington’s disease (HD). Dr. Mueller is also investigating adaptive immune responses to AAV capsid and is currently collaborating on various AAV clinical trials to characterize these immune responses in patients. One of these collaborations has resulted in the appreciation that human patients treated with intra-muscular injections of rAAV1 can elicit capsid specific T-regulatory immune responses to the capsid. Dr Mueller also pioneered the use of rAAV to deliver artificial miRNAs to silence genes with toxic gain-of-function products. Some of this research culminated with the development of a dual function rAAV vector that is able to augment normal alpha-one antitrypsin (AAT) while simultaneously silencing mutant AAT, as well as rAAV vectors for silencing SOD1, C9ORF72 and HTT as therapies for ALS and HD. Dr Mueller is currently translating the dual-function vector for AATD as well as those for ALS into the clinic.

“To me art and science go hand in hand, as a young artist I enjoyed exploring the boundaries of my imagination, using the tools and techniques I had learned to explore new ways of expressing my thoughts and interpreting the world around me,” said Dr. Mueller, “Although art was my earliest motivator my aspirations to be an artist got re-focused when as a young adult I faced a life-threatening disease. I was grateful to have been cured thanks to recent advances in medical research at the time. I realized that the opportunity that science had bestowed on me through its advances in medicine was to be my new muse. Nowadays that creativity and curiosity is played out on the lab with the hope that one day the lab and its members can be part of collective that helps heal another person so they too can realize their dreams.” 

Dr. Samuel Seward to present basic standard of care at the 24th Annual HPS Network Conference

Dr. Samuel Seward, board member of the HPS Network the Site Chair, Department of Medicine, at Mount Sinai St. Luke’s and West Hospitals, will present an overview of the basic standard of care for people affected by Hermansky-Pudlak Syndrome at the 24th Annual HPS Network Conference, March 12, at the Long Island Mariott in Uniondale, Long Island. Dr. Seward has cared for patients with HPS for more than two decades.

Dr. Seward received his M.D. from the University of Texas Southwestern School of Medicine in 1990. He joined the Sinai faculty, for the first time, in 1994, as an Associate and, later, Program Director of the Combined Internal Medicine-Pediatrics Residency. In 2004, he joined the faculty of Columbia University Medical Center, ultimately rising to Associate Vice President of Columbia Health which provided a broad array of outpatient services and programs to the Columbia community. Dr. Seward returned to Mount Sinai in 2016 as the Site Chair, Department of Medicine, Mount Sinai St. Luke’s and West hospitals. Dr. Seward is internationally known for his work with the Hermansky-Pudlak Syndrome patient population; HPS is a rare autosomal recessive disorder. In addition, his clinical interests include the care of adult patients who are survivors of congenital and pediatric disorders.

 

 

Gitman to present about maintaining kidney health at the 24th Annual HPS Network Conference

Dr. Michael Gitman, a kidney specialist, will give a presentation about maintaining kidney health on Science Sunday at the 24th Annual HPS Network Conference, March 12th, at the Long Island Marriott Conference Center in Uniondale, NY. Although a relationship between HPS and kidney disease is not yet known, a small number of people with HPS have reported kidney problems. Little is known about the issue and it is currently unclear if the problems are a result of issues related to the syndrome, or other treatments patients may have undergone to cope with various complications of HPS.

Dr. Gitman is Associate Chair for Academic Affairs and Quality for the North Shore-LIJ Department of Medicine and is an Assistant Professor of Medicine at Hofstra North Shore-LIJ School of Medicine. Dr. Gitman’s academic interests include medical education, quality improvement, and medication safety. His clinical interests are in electrolyte disorders, acid base abnormalities, and acute kidney injury.

 

Dr. Sharda to present about the bleeding challenges of Hermansky-Pudlak Syndrome at the 24th Annual HPS Conference

Dr. Anish Sharda, a researcher working on the bleeding problems associated with Hermansky-Pudlak Syndrome, will be a speaker on Science Sunday, March 12 at the 24th Annual HPS Network Conference at the Long Island Marriott in Uniondale, NY.

Dr. Sharda is an Instructor of Medicine at Beth Israel Deaconess Medical Center and Harvard Medical School. Originally from central India, he obtained M.B., B.S. from B P Koirala Institute of Health Sciences, Nepal. After completing residency training in Internal Medicine at the University of Minnesota, he joined the Hematology/Oncology fellowship program at Beth Israel Deaconess Medical Center in 2011. He has been a research fellow in the laboratories of Dr. Bruce Furie and Dr. Robert Flaumenhaft since 2012.

Dr. Sharda’s research has primarily focused on the role of platelet dense granules in thrombus formation. Currently, he is studying the molecular mechanisms underlying endothelial release of von Willebrand factor. Specifically, he is evaluating the role played by Hermansky-Pudlak Syndrome 6 protein and its partners in Weibel-Palade body biogenesis, and maturation and release of von Willebrand factor. As a clinician, he specializes in bleeding and clotting disorders, including platelet and rare bleeding disorders.

 

 

Treat your pet and raise money for HPS

If you’re a pet owner, you know that pet medications can easily be as expensive as medications for people. The HPS Network has partnered with USAPetMeds to offer drug discount cards for pet medications. For each purchase made using our policy numbers, the HPS Network gets 25 cents. That might not sound like a lot, but every little bit adds up. Get creative! If you need cards to share with other pet owners, contact the office.

“I started passing them out at the dog park,” says Heather Kirkwood, “I also gave a stack to Finley’s groomer to share with her clients.”

To buy pet medications online using our policy number go to: www.USAPetMeds.com/u500. Our ID number is 770441089. The bin number is: 610709 and the Grp number is USAP250.

Seward gives presentation about HPS at Grand Rounds

Dr. Samuel Seward Jr., a board member of the HPS Network, gave a grand rounds presentation in September at Mount Sinai West. The presentation was also telecast to an audience at Mount Sinai St. Lukes. He is the new Chair of the Department of Medicine at Mount Sinai West and Mount Sinai St. Lukes. He has also cared for patients with Hermansky-Pudlak Syndrome for decades.

Donna Appell, President and CEO of the HPS Network, attended the event and formally introduced Dr. Seward to the audience. “It was great to listen to the great questions that came from the audience,” says Appell, “We are so grateful to Dr. Seward for all he has done for us over the years, and for giving this presentation.”

 

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