Ann-Delia Bayer, a longtime volunteer with the HPS Network, passed away on Dec. 9th, 2017. She is survived by her husband Robert Bayer and her daughters Katrina and Sarah as well as her brother Timothy (Stacie) Valentine and his children Corrine and Jena.
Bayer was actively involved in HPS Network events, even though no one in her family was affected by the syndrome. For a decade she managed the kids’ dance party on Friday night at the HPS Network conference. The party gives kids affected by Hermansky-Pudlak Syndrome, their siblings and the kids of adults with HPS, a chance to have fun together and get to know one another. Bayer also regularly volunteered at the HPS Network booth at the Oyster Festival, held annually in Oyster Bay, N.Y. and at the HPS Network annual Christmas Concert. Bayer knew the Appell family through their church and started her volunteering with the HPS Network when she heard about the Network’s need for volunteers to help with the annual conference.
“AnnDelia my heart is broken. You were a quiet warrior with the biggest heart of anyone I knew,” says Donna Appell Executive Director and Founder of the HPS Network and AnnDelia’s friend, “You were always so humble and kind. Your thoughts were always about helping others. I don’t want to say good bye. I never will.”
Her family has asked that in lieu of flowers, donations be made in her memory to the HPS Network.
The HPS Network attended the Pulmonary Fibrosis Summit Nov. 10 – 12 in Nashville, TN. The summit was organized by the Pulmonary Fibrosis Foundation and featured tracks for patients and caregivers, as well as medical professionals. “The content at the Pulmonary Fibrosis Summit was very robust,” says Donna Appell, President and CEO of the Hermansky-Pudlak Syndrome Network, “It was exciting to see so much interest in the genetics behind pulmonary fibrosis, as well as a talk about Hermansky-Pudlak Syndrome given by Dr. Lisa Young.” Appell reported a myriad of potential medications in the pipeline to treat pulmonary fibrosis. That, coupled with other potential therapies such as the use of stem cells, was hopeful for everyone in the pulmonary fibrosis community.Nancy Lee, a board member of the HPS Network and a double lung transplant recipient, also attended the event.
HPS Network joins coalition of rare disease organizations to oppose repeal of the Orphan Drug Tax Credit
The HPS Network has joined with the National Organization of Rare Disorders (NORD) and more than 200 rare disease organizations to oppose repeal of the Orphan Drug Tax Credit within the proposed Tax Cuts and Jobs Act. This tax credit is one of the only a few incentives to encourage pharmaceutical companies to develop treatments for rare disorders. Currently, 95 percent of people affected by a rare disorder have no FDA approved treatment, including those with Hermansky-Pudlak Syndrome. Rare disorders affect 1 in 10 Americans.
The credit allows pharmaceutical companies to claim a tax credit of 50 percent of the qualified costs of clinical research and drug testing of orphan drugs. It was first implemented in 1983. Since then, 3,500 drugs potential treatments have been eligible for the credit, and 500 orphan therapies have made it all the way to FDA approval. Yet, there is still so much work to do!
It isn’t too early to contact your member of Congress. To find out how, go to: https://rarediseases.org/advocate/policy-priorities/contact-representatives/
Sandra Ocasio and her daughter Cassandra Mendez Ocasio are holding an online fundraiser to raise money for the Hermansky-Pudlak Syndrome (HPS). The fundraiser will run through Nov. 14 and is selling various coffee and tea products. “I bought some tea last year to give as Christmas gifts. It was a great way to not just give a gift, but to give a gift that gave twice!” says Heather Kirkwood, Vice President and Director of Communications for the HPS Network. To make a purchase, go to: https://form.jotform.com/hpstogether/coffee-break-for-hps
Research Alert: HPS Network tracking medical issues, looking for HPSers with specific characteristics
Valerie Friedman RN and Director of Medical Affairs for the Hermansky-Pudlak Syndrome Network, is tracking several medical issues we’ve noticed among the HPS community. We DO NOT know if they are in any way related to HPS, but would like to collect data that, if significant, could be shared with HPS researchers. If you have any of these medical issues, please e-mail Valerie at email@example.com and let her know so that she can add it to your profile in our membership database:
- Rheumatoid Arthritis
- Multiple Sclerosis
- Kidney disease
The HPS Network is also tracking people with albinism who have too many dense bodies to meet the diagnostic criteria for HPS currently, yet do not have a normal number of dense bodies on their platelets. They should also not have a genetically diagnosed other type of albinism such as OCA1 or OCA2. We see an increasing number of people who fall into this category and are interested in identifying whether these cases could be a new type of HPS or another form of albinism.
Valerie is also interested in hearing about any medically significant bleeding events before an HPS diagnosis was made. These stories would be used for presentations about why accurate diagnosis of HPS is so important.
If you can help, please don’t forget to e-mail Valerie at: firstname.lastname@example.org
Please make sure to update your contact information with the HPS Network! We know many families have relocated, even temporarily, because of Hurricane Maria. If we can’t find you, we can’t reach out to you with any developments that might be helpful or important. Please encourage anyone in the HPS community you know who has had a change of address to update their information with the HPS Network. They can e-mail: email@example.com or they can call: (516) 922-4022.
The HPS Network’s Capital Campaign will be mailed in early December. This is our annual general fundraising appeal mailing. Most charities do this, and for most, it is a major part of their budgets. This year the HPS Network lost one of our major fundraisers. It is even more important than ever that we have a successful capital campaign. If you know anyone you’d like us to add to the mailing list for this appeal, please send their name and snail mail address to: firstname.lastname@example.org. Or, if you’d prefer, let us know you’d like to do your own mailing with a personal appeal from you. We will send you already stuffed envelopes ready for you to drop in the mail!
A group from the HPS Network attended Meet the Experts, a patient program held at the American Thoracic Society’s annual meeting by the Public Advisory Roundtable in May. This year’s theme was “The Role of Patients in Advancing Treatments and Cures.” Sessions covered various aspects of participating in research, from what questions to ask to what it means to participate in a patient registry.
After lunch, the audience broke into different groups to discuss their particular disease state. The HPS community spent our time discussing updates in advocacy for continued research and the obstacles we must overcome as a community.
“It was great to have such a turn out from the HPS community at this event,” says Heather Kirkwood, Vice President of the HPS Network, “We all wore our Dare to be Rare shirts so we were very noticeable to the doctors and other patients that attended.”
Those from the HPS community who attended the event were: Donna Appell, Ashley Appell, Heather Kirkwood, Carmen Camacho, Frankie Feliciano, Nancy Lee, Julie Rehman, Karen Tillman, Tommy Tillman, Candice Sipe, Candice Sipe and Eden Brock.
The HPS Network raised nearly $3,500 to help with relief efforts in Puerto Rico after hurricanes Maria and Irma. After being in contact with some of our friends in the medical community regarding what was needed, the Network purchased medical supplies and sent them, with HPS Network Board of Director member Hilda Cardona, to Puerto Rico.
The Appell family helped to encourage donations by offering a $1,500 matching grant.
Puerto Rico has a long way to go to recover from these devastating events. Our hearts and prayers continue to be with our friends and family on the island every day. We know that what we could do is so little compared with so many needs. We look forward to hearing from more and more friends as the situation in Puerto Rico improves.
Make hotel reservations now to attend the 25th Annual HPS Network Conference, March 9 – 11, 2018 at the Long Island Marriott in Uniondale, N.Y. Rooms are $154 a night plus tax with the room rate. The theme of this year’s conference is Our True Colors and the banquet dinner will be a celebration of our 25th (silver) anniversary! Don’t miss this historic, and informative, event.
To make reservations online, go to: http://tinyurl.com/hps252018, or to make reservations by phone call: 516.794.3800. Tell them you are with the Hermansky-Pudlak Syndrome Network Group. Our group code is HYM. If you have downloaded the igive button on your toolbar, and you make the reservation online, a small portion of your bill will be donated to the HPS Network. The igive donation will not work if you go through the igive.com online mall and access the main Marriott reservations page. You must have the igive button downloaded on your toolbar.
Come celebrate the achievements of the last 25 years with us, and help us work toward being out of business by our 50th anniversary!