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:

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.

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.

Hermansky-Pudlak Syndrome Network featured in the New York Post

The Hermansky-Pudlak Syndrome was one of the rare diseases featured in a recent article in the New York Post by Molly Shea. Donna Appell, CEO of the HPS Network, and her daughter Ashley, were featured in the article that ran April 3rd, 2017. To see the article, go to:

HPS Network launches the Silver for Silver initiative

The Hermansky-Pudlak Syndrome Network (HPS Network) will celebrate its 25th annual conference in 2018 and to help pay the bills, the Network is launching the Silver for Silver initiative. Supporters of the HPS Network are encouraged to save their silver change until New Years, cash in the coins and send a donation for the silver they’ve saved throughout the year. “We are asking people to send their donations around the first of the year because we need the funds to help pay the bills the conference generates for the Network,” said Heather Kirkwood, COO and Director of Communications for the HPS Network, “Another alternative is to keep the funds and use them to help pay to attend the event.”

Supporters are encouraged to take “Silver selfies” with their coin stash to encourage others. Post them with the hashtag, #HPScon18.

The HPS Conference, and the Meeting of the Minds, a scientific meeting for researchers that is co-located with the conference, are one of the most expensive programs the Network undertakes annually. “We make this investment, not just so that those affected by HPS can see one another and learn more about the syndrome, but because it is vital to supporting ongoing research to someday find a cure for HPS,” Kirkwood said.


HPS researchers gather for Meeting of the Minds

The third annual Meeting of the Minds brought together 38 doctors and researchers working to solve the mysteries of Hermansky-Pudlak Syndrome, March 11th at the Long Island Marriott in Uniondale, NY. The meeting was held in conjunction with the 24th Annual HPS Network Conference.

Chaired by Dr. Lisa Young and Dr. Bernadette Gochuico, the invitation-only and researcher-only meeting gave attendees a safe and collaborative environment to discuss unpublished research, communicate about novel methods, practices and resources and to identify vital research priorities.

“When researchers get together and talk to one another, new ideas percolate,” said Dr. Lisa Young.

Fifteen presentations were given during the six-hour event concerning clinical care and research, basic cell biology and priority setting.

Several researchers presented for the first time at the meeting, including a team of researchers from the Children’s Hospital of Philadelphia. This group, recipients of an HPS Network grant, is studying the inflammatory responses and immune reactions that may be playing a role in the bowel disease of HPS.

Dr. Tadafumi Yokoyama, a researcher from the National Institutes of Health, was another first-time presenter. He is studying the kidneys of people with HPS and has found unusual cellular deposits in the urine of patients with HPS types 1 and 4. He has also discovered that a protein commonly found in the kidneys is also present in the lungs. “That was not known before,” explained Dr. William Gahl from the NIH, “In patients with HPS there is more of this protein sitting on the lungs.” Gahl explained that the researchers do not yet know what this means, or whether it has any clinical or therapeutic target relevance. “For now, I’d put it in the category of a good lead,” said Dr. Gahl.

Dr. Susan Guttentag, from Vanderbilt University, has developed a gene editing technology that allows researchers to better study lung epithelial cells in HPS mice. It is not possible to obtain these cells via lung lavage from patients, and is a time-consuming process to collect them from mouse samples. “Having cell lines like these allows us to get through more experiments faster,” said Dr. Young.

Dr. Resat Cinar, also from the NIH and also a new presenter, shared information on his work with the cannabinoid 1 receptor. He is preparing to study a potential medication for the lung disease of HPS in HPS mice. He and collaborators have submitted a grant to help pay for this work. “It takes a long time to go through this process,” said Dr. Gahl, “But this is what we need to do to follow this lead.”

Dr. Christian Mueller from the University Of Massachusetts Medical School talked about gene therapy techniques and issues that must be overcome to make gene therapy a possible treatment for HPS.

Finally, Israel Rodriguez, a board member of the HPS Network, gave a presentation on behalf of HPS patients offering their perspective on the challenges and issues surrounding medication access.

HPS Network joins other patient groups to ask Trump to lift hiring freeze on NIH and FDA

The HPS Network joined 145 other patient organizations in signing a letter to President Trump asking him to lift a hiring freeze he instituted on the National Institutes of Health (NIH) and the Food and Drug Administration (FDA) on Jan. 23, 2017. The letter was sent to the president on Feb. 27th, 2017.

The hiring freeze could significantly impact research on rare diseases as well as the review and approval of new medications. Already the FDA is hampered by a shortage of qualified employees to review new drug applications. A hiring freeze at both agencies is likely to slow down implementation of the recently passed 21st Century Cures Act.

Trump’s hiring freeze, which impacted other federal agencies besides just the NIH and FDA, does have an exemption for employees key to public safety, however, the definition of what that might mean in terms of medical research is unclear.

HPSers participate in bowel research at the HPS Network Conference

People with Hermansky-Pudlak Syndrome (HPS) offered up stool and blood samples for a bowel research study being conducted by Dr. Louis Cohen, Assistant Professor at Mount Sinai Medical Center in New York. Samples were collected from any gene type of HPS and were needed from those with HPS who did, and did not, have bowel disease.

“Even though I don’t have the GI issues of HPS, I chose to participate in the project because I feel it could contribute important information to the researchers so they can compare those with, and those without, bowel disease, “ said Nancy Lee.

Karen Tillman, who has lived with the bowel disease of HPS since she was nine years old, also chose to participate. “It would be great to be a part of the solution for future generations so that no one would have to deal with all the emotional and physical distress that I have endured.”

The bowel disease of HPS is very similar to a more common disorder called Crohn’s disease. It can occur anywhere in the digestive track, but seems to be most common in the colon.

Stay tuned for future developments from this research project.

HPS Brotherhood makes plans for 2017-2018

The HPS Brotherhood – a group of men who are supporting or caring for a loved one with HPS – met for the second time at the 24th Annual HPS Network Conference. “We had 18 men there. They were husbands, brothers, boyfriends, sons – it doesn’t matter. It was just great to have such a good turnout of men looking for a way to get involved and support someone with HPS,” said Anthony Creer, founder of the HPS Brotherhood.

The group agreed to set the goal of raising the nearly $20,000 it takes to host the HPS Conference Saturday night dinner in 2018. “We want the Network to spend that money on something else next year, like bringing doctors to the Meeting of the Minds research meeting, or funding research,” said Creer, “If each of us there raises $1,000 in the next year, we can meet that goal.” To kick off the year, the group passed the hat among themselves and raised $301.

Creer founded the HPS Brotherhood last year out of recognition that men support each other differently than women. He wanted to create a space where men could get to know each other, help one another, and get involved in the HPS community to be a part of the solution.

If you are interested in being a part of the HPS Brotherhood, message Anthony Creer on Facebook, or call him at: (813) 373-3294.  If you’d like to make a donation to support the Brotherhood’s 2018 conference goal, Creer asks that you make the check out to the HPS Network and put Brotherhood in the memo line. Donations can be sent to: HPS Network, One South Road, Oyster Bay, NY 11771.

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