Meeting Ashley Appell, you can’t miss her unique brand of spunk. It’s a mix of wanting to hug the world with a determination to make it a better place. Then you meet mom Donna and quickly learn where Ashley gets it from, and how this duo became such empowered advocates for people with Hermansky Pudlak Syndrome.

HPS is a genetic metabolic disorder characterized by albinism, visual impairment, and platelet dysfunction that causes prolonged bleeding. “There are 11 subtypes of HPS” adds Donna, a nurse, as she runs through other problems people with HPS can have, including inflammatory bowel disease, pulmonary fibrosis, and kidney disease.

Ashley has struggled with many of these complications, barely surviving massive blood loss as an infant. It’s common for people with rare diseases to struggle with serious medical issues, compounded by a lack of treatment, before they can get a proper diagnosis and proper help. “My Mom had to fight to get me the care I needed,” Ashley says, “She’s really the reason I’m here today.”  

A visit to the HPS Network website testifies to the wide-ranging challenges faced by people with HPS, along with the hard work of the HPS Network to help address these challenges. Having experienced so many of these struggles themselves, Donna and Ashley are intent on doing what they can to help others like them.   

“Ashley was very sick and I felt very, very isolated. So I started the HPS network and then I didn't know how to get research done, so I cold called the NIH and got invited to speak to them.” Donna says. As a result, Ashley became the first, or index case, of HPS studied by NIH. It led to NIH opening a HPS study protocol and inviting other families.

They work out of their Long Island home on efforts that take them from NIH conferences, to the United Nations. “We have a hard stop at 9am to Zoom with the UN about a human rights campaign to protect people with albinism particularly in non-developed countries where they can suffer horrific abuse.” Donna says.  

A priority for Donna and Ashley is better treatment for HPS. Besides collaborating with NIH, they’re working on med school classes, an international database on albinism, and a clinic for providers and patients in Puerto Rico where they have a high rate of HPS. (Recently they hosted the UN in Puerto Rico, which will be a UN report next month.) No opportunity for progress is overlooked. “We collect specimens for studies at our meetings. At our annual conference the rule is if you’re sharing research information it has to be unpublished, which means it’s new work, so we can keep moving the needle.” Donna explains as she ticks off what they do.

On the state level, Ashley served as part of a NY Dept. of Health work group which released a report in December detailing the needs of people with rare diseases and what NYS can do to help meet those needs. Now that the work group is over, Ashley is part of a campaign to create a permanent NYS rare disease advisory council. 

“We have so much yet to do,” Ashley explains. Donna nods, and together this dynamic duo head off to their Zoom with the UN. 

Learn more about HPS and the HPS network here.