May. 20, 2019
Posted by Christina Jensen
When Donna Appell’s one-year-old daughter Ashley exhibited frequent and unexplainable bruising, Donna turned to her toddler’s pediatrician for answers. She was told that the bruising was “easier to see” because of Ashley’s albinism. After leaving the pediatrician feeling patronized, Donna sought answers herself, learned about a rare bleeding disorder associated with albinism and soon met with a specialist who was able to diagnose Ashley with Hermansky-Pudlak syndrome (HPS).
Although they had finally received a diagnosis, Donna and her family were misinformed that HPS was only a mild bleeding disorder. Within a year, Ashley went into hemorrhagic shock due to extreme blood loss and had a traumatic brain injury. Having experienced such terror and isolation during this time, Donna and her husband were determined to ensure that no family would have to endure a similar experience. In 1992 they founded the HPS Network, a nonprofit organization dedicated to gathering and disseminating information, promoting awareness, accelerating research and providing support to its members.
In the early days, Donna worried about how to find patients, but after working tirelessly to spread the word about the HPS Network, she now welcomes one new family per week. The network has over 1,300 members and supports each of them through conference calls, a website filled with resources and member stories, an annual conference and more. In addition to Donna’s support for the HPS community, she has also launched Dare to be Rare, a clothing line helping to raise awareness for all 25-30 million Americans living with a rare disease.
Donna’s mission started with Ashley and continues with the thousands of families she has connected with over the past 26 years. Looking ahead she says, “We are still dreaming of the day there is a targeted treatment…I know that it will happen and I know that we helped. I pray that I have fueled the journey with hope.”
NORD is honored to present Donna Appell with a 2019 Rare Impact Award.
Join us during NORD’s annual Rare Impact Awards ceremony, presented as part
of the 2019 Living Rare, Living Stronger Patient & Family Forum in Houston, TX.