Rare Leader: Donna Appell, Executive Director, Hermansky-Pulak Syndrome Network

The Basics
Name: Donna Appell

Title: Founder and executive director

Organization: Hermansky-Pudlak Syndrome Network

Social Media Links:

Disease focus:  Hermansky-Pudlak syndrome (HPS) is a genetic metabolic disorder, characterized by albinism, visual impairment, and a platelet dysfunction that results in prolonged bleeding. Some people with HPS may develop other complications depending on the HPS gene involved, including inflammatory bowel disease, pulmonary fibrosis, and kidney disease. Currently there are 10 known types of HPS. The future might also reveal other unidentified HPS gene types. HPS can range from mild with few symptoms to very severe and disabling. Since HPS is an autosomal recessive disorder, both parents are expected to be carriers of the abnormal gene.

Headquarters: Oyster Bay, New York

How did you become involved in rare disease: I was blessed with having a daughter, who was born with this disorder. When my first child was born, we discovered at her two-week, well-baby visit that she had legal blindness and we were pretty upset to find out that she had albinism. We were given to understand that she wasn’t going to see well and that was sad. Then, as she was developing and starting to walk around, I noticed that she had little bruises on her shins. She was trying to walk in our living room on the carpeting. I couldn’t understand that. I started to research albinism and I found a sentence on a rare platelet defect that occurs sometimes in albinism. I brought it to the attention of her pediatrician. I brought her about four times back and forth to the pediatrician was told things like, “Her skin is fair, so you see bruises more,” which I found to be utterly ridiculous. It’s like telling me that I could be partially pregnant. It’s either a bruise, or it isn’t a bruise, no matter what color your skin is. I was unsatisfied, so I investigated further and tried to get to the bottom of this. I ended up getting enough gumption to call the author of a pamphlet I was reading on albinism. He was in Minnesota. We were living in New York at the time. I got the author on the phone and I asked, “What is this sentence about this platelet defect, this bleeding problem?” He sent some test tubes in the mail to New York to us and said, “Have her blood drawn and we’ll check it.” Lo and behold, he diagnosed her with Hermansky-Pudlak syndrome, which is a type of albinism that causes a bleeding problem due to a platelet defect. We wanted to move and go live next door to his house. He told me you need to learn the disease and teach her and help her community understand her. We started to learn about it. In the meantime, before I learned very much, when she was under two years old, she hemorrhaged to shock in her crib in the middle of the night. I went in and there was blood all over the place and I remember standing there and changing her diaper five times just to clean her to take her to the hospital. And it just kept coming, she was just bleeding tremendously. She was put in the intensive care unit and she got 36 units of platelets and six units of blood during that hospital admission. She had gone into a body shock and had lost some blood supply to her head. She had a traumatic brain injury from that.  She had developed the inflammatory bowel disease of Hermansky-Pudlak syndrome coupled with the platelet defect. There was little known if anything.  She needed platelets to stop the bleeding.  We were terrified.  That was my entrance to the world of rare diseases.

Previous career: Nurse

Education: Bachelor’s degree in nursing from Molloy College

The Organization
Organization’s mandate: Our mandate is to cure Hermansky-Pudlak syndrome.

Organization’s strategy: Finding a cure has much to do with the fact that people with Hermansky-Pudlak syndrome develop pulmonary fibrosis. The disease is rather relentless and there are 10 different gene types. Three of the gene types develop pulmonary fibrosis and these people die in their thirties and forties of lung disease. We urgently need to find a cure. We do what a lot of other groups do to raise money to fund research.  But part of our strategy is to understand our assets. We are the face and the heart of the disease. We’re international. We don’t have any other organizations working with Hermansky-Pudlak syndrome. We try to attract and inspire researchers to work on this. We don’t have tons of money, so it’s hard to financially support them. We do it as best we can, but we try to inspire them as often as we possibly can. My second strategy, and possibly just as important, is that my job is to create a clear, clean cohort of people that are “research ready”—people who understand what it means to be involved in clinical trials and in research and the benefit and the complexity and the challenges of being rare disease, clinical trial participants. I feel that’s equally as important as attracting and inspiring the researchers.  I need to attract and inspire the members.

Funding strategy: We’re blessed with some major donors who support us every year, and we have an amazing group of selfless members who do all sorts of small fundraisers of every type. We have a lot of people who understand our mission and believe in our work. We have an annual holiday concert and we have a singer and a band that adopted our cause. That’s one of our annual fundraisers and we’re blessed to have received some grants.

What’s changing at your organization in the next year: One of the exciting things that happened to us is receiving an exciting grant, which came from the Chan Zuckerberg Initiative. We’re one of the Rare As One community members, and that gave us a lot of oomph for our goals this year. One of them is that we want to create a platform, a better database that could involve patient reported outcomes (PRO) work, which is really a strategy to engage our members in clinical research.  A lot of our people are from Puerto Rico. This disorder has a founder’s effect in Puerto Rico. There is a large majority of our people who are Spanish speaking, legally blind, and live on the island of Puerto Rico where they have hurricanes and earthquakes. We are working to bring clinical trials to them. We’re hoping to do that in the form of a robust database that they can interact with on their phone with some patient reported outcomes. We want to get them involved—report back some of their feelings and findings—get them ready to be involved in clinical trials. The other thing that we want to do this year is to do a better job in engaging and networking the researchers and clinicians from around the world. We want to have a platform for collaboration for researchers from other countries.

Management Style
Management philosophy: We work closely together. In everything that we do, we collect data, discuss, and then decide. We check out the data, we gather all the information we need to inform the decision. Then we discuss it and then we decide. I don’t do that in a silo. I do that with my whole team. I feel like I’m only part of a brain. We work together well. We’re fueled by our passion. Everybody understands that.  Our stakes are high. It’s a life or death race that we have going on here.

Guiding principles for running an effective organization: The big mantra that everybody in my organization lives by is “Don’t drop the ball.” When you are running an organization for a rare disorder, there are people in leadership that have the disease as well as others on our team, who are family members and caregivers. There are a lot of times that things come up that prevent us from finishing what we’re doing. That’s fine. I’m okay with that, except that you have got to throw the ball to somebody else. All the balls have to be constantly in the air and they have to be tossed in whatever direction that they need to be tossed to get the job done. I would say our biggest guiding principle is, “Don’t drop the ball.”

Best way to keep your organization relevant: Staying on top of research. We’re keyed into what’s going on in gene therapy, what’s going on in stem cell therapy, what’s going on with the bigger organizations and the new treatments that come out to treat pulmonary fibrosis. We just watch the landscape. You’ve got to set your inbox for all the alerts of newly published articles.  We do host an annual science meeting and we invite the researchers. We love them to come to this meeting, but one of the requirements of the meeting is that nobody’s allowed to be a speaker if they lecture about published work. All the work that is brought together has to be unpublished data. It is behind closed doors, but it’s current information and relevant conversations ensue.

Why people like working with you: I laugh and I cry. My emotions are obvious and I’m confident enough to say that I’m not confident all the time. Maybe they feel sorry for me. Maybe they know that I don’t know all the answers. Maybe they feel like they can pitch in and help. I have a great team. I pinch myself all the time with the people that work with me. I like working with them probably more than they like working with me. I’m flexible because we’re all about family and I understand their commitments. We have a sense of objectivity about what matters in life. It enables me to be flexible so that people’s lives come first.

Mentor: I cannot think of one person. I have so many influencers in my life and I would say one of my biggest influencers is my daughter. To see her kindness and her gentle nature—she’s never said, “Why me?” She is an incredible human being who has such tenacity. She never gives up. She just keeps at it. I am honored to be her mother and I learn from her every day. Looking at our members, all the people that have the disorder that are going through lung transplants and the challenges that they’ve gone through so graciously. Another influencer is my husband.  He is successful in business and I ask him some business questions. I’m not a business type. A lot of times I have to reach out for his advice. And I have a son that adds humor to everything. I’ve learned to laugh from him and learned to enjoy the journey. And last but not least I have my colleagues from other organizations. I carefully watch what other organizations are doing. I don’t hesitate to pick up the phone and asking a colleague in a bigger, better organization, “How am I supposed to do this? How do we do this? What do I do next?”

On the Job
What inspires you: I would say the courage of my daughter and our members again. That just keeps me motivated. I get inspired by watching them support each other. The love that they have for each other inspires me. They lift each other up and me too.

What makes you hopeful: Research right now is cool. I’ve been at this for a long time. I’m 20 years into this whole rare disease thing and it’s so slow. It’s just incredibly snail-paced. I thought that when my daughter was born the fact that they might succumb in their thirties and forties meant that I had a long time to fix this disease. I thought that it would be possible.  It is now 20 years later and we’re still at it and we don’t even have a treatment! The hopeful thing is that I look at gene therapy now and I think that gene therapy is the answer. There are great advances that are just on the horizon. I’m not sure how fast they’ll be here for us, but I see them on the horizon. That makes me hopeful. Another thing that makes me hopeful is watching the speed at which the unbelievable collaborative researchers are working on COVID-19 and that we’re going to get a vaccine and we’re going to get a treatment. It’s like everybody’s head spun, everybody got to work, and everybody’s going to get us taken care of. It is inspirational to see the collaboration that’s going on. If it can be done for COVID-19, maybe lessons will be learned, and science will maintain some innovations.   

Best organization decision: I’ve been in this a long time and I think that my best decision ever was to go from a volunteer organization to staff. The day that I hired my first team member was a gift from God. She’s incredible. She’s still with me. My team has been with me for a while and that made a big difference for the organization; to be able to ramp things up and manage the amount of people who are coming on board. There are more and more people with the disorder that we are finding or that are finding us. That causes the organization to get bigger and we need to be able to handle it.

Hardest lesson learned: The hardest lesson was watching my members die. I get sad because I feel like I let them down. We’ve worked a long time and we still don’t have a treatment. I feel like there’s a lot of people counting on the stuff that we do, and I feel like I let them down sometimes. The hardest lesson I had to learn is to just have the fortitude of my daughter to keep going.

Toughest organization decision: Our annual conference and our huge science meeting was to be held on March 11 this year. The week before I had to make the decision to cancel our conference [because of the pandemic] when we were so ready. We worked on it for a year. We had people flying from other countries. I had people coming from Japan and France and I had to make the decision to cancel the conference before it was an obvious thing. It became obvious the week later, but because I couldn’t put my people at risk, I had to shut down our conference for the first time.  We have had 26 consecutive conferences and that was the 27th.

Biggest missed opportunity: I’m not sure it’s totally missed yet, but I’m trying to organize the rare disease community to do fundraising together. I have ideas for that, but it’s hard to dedicate time to make something like that happen because it takes me away from what I’m doing with HPS. It’s a missed opportunity because it wasn’t done two years ago when I wanted to start working on it.  I’m not sure it’s missed yet, just wish I could clone myself to get more done.

Like best about the job: I think being surrounded by the kindest, most amazing, and wonderful researchers and doctors. I mean I have the best of everybody. I have the best doctors in the world. I have the most creative staff. I have the most inspirational and happy members. They’re all lovely, nice, and happy. Being surrounded by these individuals is what I like best about this job.

Like least about the job: What I like least is feeling that I never can get the job done. I want to be able to put down my pencil and say, “Okay, did it. Cured.” Drop the mic.

Pet peeve: It’s something that I work on a lot, so it’s something I own too, but procrastination is hard to swallow when you’re trying to race to beat the disease. It’s something I don’t particularly care for, but it’s not like I don’t own it too. I try to minimize it.

First choice for a new career: Well, that’s a funny question. I can’t even retire from this career ever. I would love to think about another career, but I can’t give myself that luxury. If I did, I would love to design greeting cards or be a lyricist. I love words and I often can’t speak them correctly or say them concisely. I would love to work on music or on cards to tell my feelings and tell people what I’m thinking.

Personal Taste
Most influential book: Good to Great: Why Some Companies Make the Leap and Others Don’t by Jim Collins. I worked hard to understand Good to Great. I learned a lot of lifelong lessons from it, especially about running an organization. I read it a long time ago and one of the things that have stuck with me over the years is that if there’s a problem in the organization, or there’s a problem anywhere, don’t look out the window. Do not look accusatory at everybody else for the cause of the problem. Look in the mirror instead. It has been a lifelong lesson that has had great value. It could be that something’s going on that I don’t particularly care for, but the way to fix it is not out there. It’s in me. It’s in the workings of the organization. It also taught me that to be a good leader, you should become more and more invisible. You become less in front of everybody’s face. Being a good leader is to get everybody else to become leaders.  It teaches you to be less egocentric. It’s not about the attention. It’s about getting the job done. That has served me well. And, stick to your “hedgehog”; stick to the goal. Don’t get confused with all the noise that’s around. Stay focused on your mission.

Favorite movie: Lorenzo’s Oil. That movie came out about when I started my organization.  Watching that movie, I felt so strongly that people CAN make a difference. We CAN move the needle. We can become citizen scientists. We can do this. And it gave me the power. I’m not an aggressive person, but it gave me the oomph to start an international nonprofit organization to try to find a cure for a disease. Who would have ever thought of it? I think I watched it 20 times.

Favorite music: All genres that have uplifting messages – songs like “We Are Family,” and “You’ve Got a Friend,” “Bridge over Troubled Water.” I love words. I love when words can lift people’s spirits.  I love music that does that.

Favorite food: I like blueberries, but I love all kinds of food. It’s too numerous to count. It’s the same as mentors. I have so many influences. I have a lot of food that influences me too.

Guilty pleasure: Eating all those foods

Favorite way to spend free time: I have a hard time relaxing. It’s a little pathologic—my need to cure this disease. I think that sleep is a waste of time. I feel like I let people down if I relax, but to relax, I realized that there has to be somewhat of a balance in life somehow. I like to play games. If I’m going to relax, somebody has to engage me in some activity. I’m not good with small talk. I’m just not a small talker. It’s hard for me to shut off. I need to play a game. That’s what I like. That’s the way that I can calm down.