I would like to nominate, Donna Appell as a candidate for the "Lead a Rare Life Contest." Donna Appell is a rare and wonderful human being who has dedicated her life to finding the cure for a rare genetic metabolic syndrome known as Hermansky-Pudlak Syndrome. Her daughter, Ashley Appell was born with this syndrome and her mother has moved heaven and earth to find a way to save her from a shortened life brought about by the inevitable pulmonary fibrosis that comes with her illness. Two weeks after her birth Donna was told that her daughter had albinism and legal blindness. She had no idea what Ashley was suffering from or the challenges that would follow. In 1989, at 2 years and 10 months of age, Ashley had a horrific night in which she hemorrhaged to shock in her crib from rectal bleeding. She needed 36 units of platelets and 6 units of blood and was in the hospital for months. Donna and her husband, Richard never wanting another couple to go through this terrifying unknown founded the Hermansky-Pudlak Syndrome Network (www.hermansky-pudlak.org) shortly after this hospital stay. The HPS Network became a not-for-profit corporation in 1992
Prior to establishing the HPS Network, Donna was receiving no answers as to what was wrong with her daughter. She began to feel patronized by her doctor and frightened that he would continue to disregard her concerns. Urgently, she called the author of a pamphlet she was reading about albinism. It contained a sentence about some patients with a rare type of albinism that also suffered from a rare bleeding disorder involving platelets. She called the Dr., made arrangements to have Ashley tested and it was then confirmed that Ashley suffered from Hermansky-Pudlak Syndrome. It was Donna's devotion to Ashley as well as her medical back round as a nurse that led to the discovery of her rare genetic metabolic disorder. Starting and developing the HPS Network from a few families to an International Organization and helping this community to live a healthier life and someday have a cure is Donna Appell's main mission and ministry.
A few comments from one HPS member will speak volumes on how she impacts all members. "I guess something about Donna that strikes me the most is the first conversation I ever had with her. I had been googling HPS with the suspicion that my daughter had it, as we were in the process of testing for the different types of albinism. What stuck with me the most is the last thing she said to me. Donna said, 'I pray I never hear from you again, not because I don't want to, but because you're daughter does not have HPS. If she does, we are here for you always.' That is the type of person that Donna is, hoping for the best, preparing for the worst, and being absolutely selfless about it"....Becky Nieves, mom of a daughter, Leanna, with HPS and an HPS Board Member
I admire her devotion to her precious daughter, Ashley and to all of her HPS family. She has taken a personal challenge and created a "life changing" Network for a community of people who suffer from a very difficult syndrome. "Somehow she has single-handedly managed to draw attention to and interest in HPS while weaving the complexities of the research, medical and government communities, and the most impressive part is that she has accomplished all of this while caring for hundreds of us who are affected by HPS and its complex medical issues"....Nancy Lee, double lung transplant recipient and HPS Board member.
It would be an incredible help to accomplish two very important goals of the Network. 1) Funding the research that will lead to effective treatment and the cure for HPS. "I would highlight Donna's extraordinary skill at engaging scientific and medical professionals, aligning the needs of the HPS community with their research and clinical interests, gaining their trust and commitment and then growing this over years and decades".....Dr. Samuel Seward (Chair, Dept. of Medicine Mount Sinai St. Luke's, cares for many HPS patients). 2)Support of our annual HPS Family Conference. March 2018 will mark the 25th Anniversary of this popular conference. The evolution of the conference has been a life altering event for the HPS family. It is here that those with HPS connect with others who look like them and are suffering the same disease and the difficult challenges that entails. The weekend is both highly educational and great fun as they learn how to achieve a better, safer quality of life. There is also the opportunity to meet with the Doctors and Researchers that are working on effective treatment and the cure for HPS
Two other "rare" points should be made here. First the Network has a documentary entitled, Rare by Maren Granger-Monsen and Nicole Newnham from Stanford University, that chronicles the story of Donna Appell and the HPS Network. The result was an acclaimed film that has been aired on PBS and is used in Medical Schools for its educational value. Second Donna's newest vision resulted in the launch of another non-profit entitled, "dare to be rare" (daretoberare.org). Hopefully this slogan on apparel and other merchandise will become as well known as, "Just do it" and help all rare diseases raise money for their communities.