Flor Otero, who received a double lung transplant in May, shared her story with the Highlands News-Sun and it was published in the June 18th edition of the paper. Otero was able to share about her surgery, raise awareness about organ donation as well as explain Hermansky-Pudlak Syndrome to the general public. Flor says she believes she received a miracle and now hopes to help work on outreach to raise awareness about HPS. You can read the article here: https://www.yoursun.com/sebring/a-new-lease-on-life/article_c2f9e210-05ce-59f6-a56f-10c54d7ac010.html
The HPS Network is offering a wallet-sized medical health alert card that has a QR code physicians or emergency personnel can scan to instantly be directed to information about HPS, treating bleeding and even some of the key standard-of-care medical papers they might find helpful. The information is in both English and Spanish.
A QR code is a symbol that has a barcode in it. The symbol can be scanned with any number of free applications available for all types of smart phones. Once scanned, the user is taken directly to the information about HPS. This way a person with HPS, or a care giver, doesn’t have to worry about always having a doctor packet with them. They can simply give medical staff this easy-to-carry card. While not a replacement for a medical alert bracelet, it can be kept in your wallet next to your medical insurance card so emergency personnel can find it.
If you would like to request a HPS medical health alert card, please e-mail the HPS Network at: email@example.com
Join the HPS Network and eat for the cure Saturday, Aug. 18 at Mamma Gina’s Pizzeria, 104 East Merrick Rd in Valley Stream, N.Y. The event will run from 4:00 pm to 9:00 pm.
Mamma Gina’s Pizzeria will donate 20 percent of your bill to the HPS Network if you mention the HPS Network’s event when you order (and remind them when you pay).
It is very helpful for planning purposes if you RSVP at: https://www.groupraise.com/events/62927
Thanks Amber Klein for organizing this event.
Families impacted by Hermansky-Pudlak Syndrome will gather for the 26th Annual HPS Network Conference, March 8 – 10, 2019, at the Long Island Marriott in Uniondale, N.Y. This year’s theme: “Life is Sweet When We Are Together.”
The HPS Network Conference is a place for families, physicians and researchers with an interest in Hermansky-Pudlak Syndrome (HPS) from around the world to gather for fellowship, education and fun.
The conference includes:
- Opportunities to meet and network with other families impacted by HPS
- Educational sessions for everyone from the newly diagnosed, to seasoned veterans. Topics include an overview for those newly diagnosed, women’s health issues, coping with the GI complications of HPS and information about lung transplantation, among others.
- Updates on the most current HPS research
- Opportunities to meet the doctors and researchers working to find better treatments, and someday, the cure
- Sessions designed to be a chance for attendees to have fun with new and old friends
- Sessions to learn how your family can participate and be a part of the solution
- Opportunities to participate in HPS research
- A workshop for the moms of kids with HPS
- Kids Camp – fun activities and a field trip for kids over five years old (Childcare is provided.)
Spanish language translators will be available.
Limited scholarship assistance is available in some cases. Contact the HPS Network to learn more.
There is also a Facebook event page at: https://www.facebook.com/events/691973927816341/
Since you registered with the HPS Network, have you updated us about your health history? Keeping us up to date on major developments helps us find you should there be a research development or opportunity that might be applicable to your situation. Have you, for example, learned your gene type? Have you developed any other health issues such as GI complications or lung disease? Have you developed other health issues you might assume are not related to HPS such as arthritis or Lupus? This also helps the HPS Network keep an eye on potential less common symptoms. If we see trends that exceed those in the general population, we are able to alert our researchers and ask if it is worth looking into further. Some types of HPS are rarer than others, and thus the number of people studied is smaller. It is likely there is still much we do not know. You can help by communicating with us about such information. To learn more, or to talk about updating your information, contact Valerie Friedman, Director of Medical Affairs, firstname.lastname@example.org.
Without research, we will never find better treatments, and someday, a cure for HPS. If you would like to participate in HPS research let us know you are interested. There may or may not be an opportunity currently that is the right fit, but it helps if we know you want to participate should the right opportunity come along. You can e-mail Valerie Friedman, Director of Medical Affairs and let her know you’d like to check in to see if there is the right opportunity for you. Her e-mail address is: email@example.com
Dr. William Gahl, Clinical Director of the National Human Genome Research Institute, Head of the Undiagnosed Diseases Program and Senior Investigator, Medical Genetics Branch at the National Institutes of Health, was awarded the Lifetime Achievement Award by the Hermansky-Pudlak Syndrome Network at its 25th annual conference in March, 2018.
Dr. Gahl started clinical research into HPS at the NIH back in the early 90s by first studying Ashley Appell, the index case for HPS. He then opened the Natural History Study of HPS to begin to understand how HPS symptoms developed over the course of a lifetime. Using data from this study, he opened a phase II clinical trial to study the use of Pirfenidone (Esbriet) to treat the pulmonary fibrosis of HPS in 1998. Later he opened a phase III study for Pirfenidone. His lab identified three of the 10 known genes to cause HPS.
Dr. Gahl has attended every HPS conference since the first conferences held in the Appell home. He and his lab have seen more HPS patients than anywhere else in the world at the NIH Clinical Center.
“We have been so blessed to have an investigator like Dr. Gahl in our corner all of these years,” says Donna Appell, Executive Director and Founder of the HPS Network, “I don’t know where we would be today without his dedication, insight, intellect and kindness.”
Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin’s McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH’s Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl’s research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome.
Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, and neutropenia due to VPS45 deficiency. He has published more than 350 peer-reviewed papers and trained 36 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served one the board of directors of the ABMG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians.
Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards.
The HPS Network exhibited at the annual meeting of the New York Thoracic Society, held March 23-24, 2018 at the Westchester Medical Center in Valhalla, N.Y. Exhibiting at this event gives the HPS Network a chance to reach out to pulmonologists in New York to increase awareness of HPS, and to make them aware of the services the HPS Network can offer their patients. “It’s an honor to be at this event, and to support the New York Thoracic Society in any way we can,” says Donna Appell, Executive Director and Founder of the HPS Network. Donna, and her daughter Ashley Appell, manned the HPS booth at the event.
HPS Network Supports the 2018 FASEB Science Research Conference on “The Lung Epithelium in Health and Disease”
Oyster Bay, NY – The Hermansky-Pudlak Syndrome Network (HPS Network) donated $5,000 to the 2018 Federation of American Societies for Experimental Biology (FASEB) Science Research Conference on “The Lung Epithelium in Health and Disease.” The FASEB conference will be held, July 29 – August 3, 2018 in Olean, NY.
“We are delighted to be able to support the work of this conference, and the researchers who will be attending,” said Donna Appell, Executive Director and Founder of the HPS Network, “Understanding the lung epithelium better will help not only patients with Hermansky-Pudlak Syndrome, but those with other lung diseases as well.” Their work is vital to discoveries that will, hopefully, lead to better treatments, and someday cures, for all of us.”
The HPS Network is a 501c3 organization serving families affected by Hermansky-Pudlak Syndome or HPS. HPS is a type of albinism that involves not only low vision, but also a bleeding disorder. Depending on the gene involved, it can also cause digestive disease and pulmonary fibrosis. People with HPS types 1, 2, and 4 develop pulmonary fibrosis 100 percent of the time. The HPS Network connects families with diagnostic testing, provides education for both the patient and medical communities and supports research. Learn more at www.hpsnetwork.org
Becky Nieves and Sandra Ocasio, both mothers of someone with HPS, are organizing a fundraising project and they’d like your child’s help. They are creating a 15-page book, written and illustrated by kids with HPS, their siblings and the children of adults with HPS, about being rare. The books will then be sold as a fundraiser. They already have eight submissions, but would love to have more! If you and your child 12 or under would like to participate here is what you need to do:
- Ask your child to draw two or three pages portraying something rare about themselves. It could be HPS related, but it doesn’t have to be. It might be something they are good at doing, or a unique hobby. It would be great if the kids used pencils or crayons to create their drawings.
- Each drawing should have a text box, typed, that answers the question, “I am rare because…”
- Submit the drawings as PDF files to Becky Nieves at firstname.lastname@example.org
If you are not able to add the typed text box or scan your child’s artwork to make a PDF, you can mail it to: Becky Nieves, 9 Elbow Lane, Sicklerville NJ, 08081.
Please have submissions in by Sept. 1.