Edwin Santiago has partnered with his employer, Dell, to help the HPS Network raise funds to purchase spirometers for post-transplant HPS patients. Spirometry is vital to post-transplant patients because even small changes can be the first tip off to potential rejection or infection issues, sometimes even before other symptoms are felt. Survival rates are better when such complications are treated early! Often, however, spirometers are not covered by insurance. Dell as agreed to match up to $4,000 for the program.
You can donate by clicking on the link below. You do not have to be an employee of Dell to participate. Just register as a guest when prompted.
A team from the HPS Network attended the 114th American Thoracic Society International Conference in San Diego in May to hear the latest in pulmonary research, and to generate awareness of Hermansky-Pudlak Syndrome (HPS). More than 116,000 pulmonary doctors, researchers, nurses and therapists from 102 countries attended the conference.
The HPS Network manned a booth on the exhibition floor to generate awareness, provide literature to interested doctors and researchers and to answer questions. Volunteers with HPS in the booth showed off their eyes to demonstrate what nystagmus looks like and showed photos of various members to illustrate the varying skin tones in our community.
While some of the team manned the booth, others attended scientific meetings to hear the latest in pulmonary fibrosis research and keep an eye out for developments that might be applicable to those with HPS one day.
Carmen Camacho, a member of the HPS Network’s board of directors, gave a presentation about the benefits of palliative care for patients to one of the conference’s sessions. “Pallative care isn’t just for people who are dying. It isn’t the same as hospice. More patients could benefit earlier in the course of their disease,” says Camacho.
The HPS Network also hosted a chocolate reception at The Melting Pot for HPS researchers and physicians. It is a tradition the Network started several years ago and provides a chance for interested doctors and researchers to network informally in a relaxed atmosphere. It also gives them a chance to connect in person in between the Meeting of the Minds, a research meeting held in conjunction with the HPS Network Conference.
This year’s team attending ATS included: Carmen Camacho, Nancy Lee, Donna Appell, Ashley Appelll, Demetria Saffore, Kristen Brantner, Candice Sipe and Crystal Sipe.
Dr. Arlene Drack, an ophthalmologist from the University of Iowa, will speak to families affected by Hermansky-Pudlak Syndrome (HPS) at the HPS Network Conference, March 8 – 10, 2019 at the Long Island Marriott in New York.
Dr. Drack is a clinician scientist specializing in juvenile inherited eye diseases. She is the inaugural Ronald V. Keech Associate Professor in Pediatric Ophthalmic Genetics at the University of Iowa Department of Ophthalmology and Visual Sciences. Her research focuses on inherited eye diseases that affect children, particularly in the development of novel treatments. She is experienced in subretinal injection of molecules to treat mouse models of retinal degeneration, as well as participating in human trials for retinal disorders. She co-directs both the clinical and rodent electroretinogram services at the University of Iowa. Her clinical practice includes the full scope of pediatric ophthalmology and strabismus, in addition to running specialized genetic eye disease clinics.
Dr. Drack received her BS in biology and philosophy from the University of Scranton and her MD from the Pennsylvania State University College of Medicine. She then did a fellowship in immunology at Det Norske Radiumhospitalet, University of Oslo. Dr. Drack then did her internship at Georgetown University Medical Center and another fellowship at the Ophthalmic Genetics program at the Wilmer Institute at John’s Hopkins University. She did a residency in Ophthalmology at Georgetown University Medical Center… Finally, she did fellowships in pediatric ophthalmology and Strabismus, and in molecular Opthalmic Genetics at the University of Iowa. Dr. Drack even has a video to tell you all about herself! How cool is that? https://www.youtube.com/watch?v=ettVFCSZFNM
The American Society of Human Genetics announced the question for the 2019 Essay Contest. The annual contest is open to students from around the world in grades 9 – 12. The winning submission will be awarded $1,000 and $1,000 in lab equipment for the student’s science teacher. There are also other prizes. The contest is one of many activities held to celebrate DNA Day, April 25th, 2019. The day honors the completion of the Human Geenome Project in April, 2003 and the discovery of the double helix in 1953. Students won’t be able to enter the contest until January and all submissions are due March 8, 2019 (the first day of the HPS Network Conference in New York.) To learn more about the contest, and to see the this year’s question, go to: http://www.ashg.org/education/dnaday.shtml
Steve Shank, an HPSer who received a double lung transplant two years ago, shared his story with Minnesota KARE 11 News in July. Steve had hoped to participate as a bicyclist in the American Transplant Games, but sadly had to stay home after being hospitalized with an infection. That didn’t stop him, however, from using his plans for the games as a way to share his story about HPS and about transplantation and organ donation. To watch the interview, go to: https://www.youtube.com/watch?v=yAhkU5y-faI&feature=youtu.be
Caren Shank returned to Iowa this past June to join with her husband’s ophthalmologists and give a presentation about Hermansky-Pudlak Syndrome at the 2018 Iowa Eye Annual Meeting. The presentation was called “The Importance of Gene Testing in Albinism – It Is Not Just Academic.” Caren and her husband Steve relocated to Minnesota two years ago after Steve was diagnosed with HPS. He received a double lung transplant at the Mayo Clinic soon thereafter.
Caren presented with Dr. Arlene Drack and Dr. Mark Wilkinson. She shared Steve’s story and why it was so vital to know the specific type of albinism Steve had. Dr. Drack will be at the 2019 HPS Network Conference. We are thrilled to have these allies helping to advocate for HPS screening.
Enjoy a juicy steak and help us fund the cure, Sept. 25 between 4:00 pm to 9:00 pm at the Outback Steakhouse, 901 Route 73 South in Marlton, NJ. Tell the server you’re there to support the HPS Network, and a portion of your bill will benefit us. Enjoy some steak and lobster, or some Queensland chicken and shrimp pasta. Or, maybe a salted caramel cookie skillet for dessert. Yummy!
A multi-disciplinary clinic for anyone with HPS will be held Oct. 20 at Mayaguez Medical Center in Puerto Rico. The clinic is free, and is a chance for children and adults with HPS to consult with a variety of physicians knowledgeable about Hermansky-Pudlak Syndrome. There are a limited number of appointments available, so don’t wait too long to make yours. Limited transportation assistance is available.
Physician experts will include:
Pulmonary – Dr. Monia Egozcue, Dr. Rosa Roman and Dr. Jesse Roman
Pediatric pulmonary – Dr. Wilfredo de Jesus
Hematology – Dr. Eric Cruz
Gastroenterology – Dr. Felix Rivera Borges
To make an appointment, call: (787) 210-1102 or (787) 236-9873.
For questions you can leave a message for Hilda Cardona at: 1 (855) 754-1040.
Mothers of children with HPS will gather for their third annual workshop Friday, March 8, 2019 at the 26th Annual HPS Network Conference. The HPS Network Conference will be held March 8 – 10, 2019 at the Long Island Marriott in Uniondale, NY.
The Mother’s Workshop will begin at noon and run until 6:00 pm. Moms will have a chance to network with one another, talk about the importance of self care and share ways to cope with the many issues surrounding raising a child with HPS. “We have to take care of ourselves so we can be the best for our kids,” says Becky Nieves, the mom of a daughter with HPS and HPS Network board member, “This is a place to network, and vent and learn with other moms who really do get it.”
Sheila Adamo, LCSW, CADC will lead the workshop. Adamo 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. 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. Her company, Building Parent Connections, 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.
The workshop will begin at noon, but we understand that some families will need to arrive later. Please feel free to join us when you arrive. Child care for the conference does not begin until 7:00 pm, so moms must make arrangements for their children during the workshop. Caretakers might want to take the kids to the hotel pool for a swim, or join the early conference getting-to-know-you sessions that begin at 3:00 pm.
Kylee Brantner’s Girl Scout troop voted to donate left over funds from their year to the HPS Network in July. Kylee is a person with HPS and has done several HPS fundraisers over the years with her friends. The HPS Network is grateful to Girl Scouts of Western Washington Troop 44267! It is ladies like all of you that make a difference!