Rare Leader: Heidi Wallis, President, Association for Creatine Deficiencies
January 14, 2021
Name: Heidi Wallis
Organization: Association for Creatine Deficiencies
Social Media Links:
Disease focus: Creatine is essential to sustain the high energy levels needed for muscle and brain development. Creatine is necessary to increase adenosine triphosphate (ATP), providing energy to all the cells in the body. Mutations to different genes can cause a creatine deficiency, which can lead to development delays, intellectual disability, seizure disorders, behavior disorders, movement disorders, and other complications.
Headquarters: Carlsbad, California
How did you become involved in rare disease: I have a daughter with GAMT (a type of creatine deficiency) and knew of another mom, through our genetic counselor, who had a son with GAMT. She’d waited several years to find another family with a child with the same disorder. I got to know that mom, Kim, and she founded ACD in 2012. At that time, I was homeschooling my daughter. I wasn’t able to be involved from the beginning. Kim was in town with ACD at an American College of Medical Genetics (ACMG) conference where ACD was exhibiting. She said, “Do you want to come down and meet us and see what this is all about?” I didn’t understand the purpose of patient advocacy groups at the time. I thought of ACD as just warm and fuzzy “charity” work. I went to the ACMG and was impressed right away. Later, I joined the board, and served four-and-a-half years, until the beginning of 2020 when I took on the presidency. It’s a passion. It’s my official hobby and gives me balance in my life. I suspect a lot of people who serve on nonprofit boards feel similarly and have to strike a fine balance between service work, career, and family. I sometimes have to remind my husband, “You have your hobbies and I fully support them. This is my hobby. This is what I love.”
Career: I feel fortunate to work for the Utah Public Health Lab in the newborn screening department.
Organization’s mandate: Our mission is to advocate for education, build awareness, decrease the time to diagnosis (through increased clinician awareness as well as newborn screening), and support research to find treatment options and cures. My children have a treatment option. It could be improved greatly. But other children with creatine deficiencies have no treatment options. A big focus of ACD is to support research and build awareness, so families aren’t spending seven years with a misdiagnosis or no diagnosis at all. They know right away what they’re dealing with, get support, and then eventually get a treatment.
Organization’s strategy: Our strategy is to identify the gaps in creatine deficiency research and help fill them—whether that is shareable research tools like a well-planned patient registry, patient samples, or partnerships among researchers. We are also focused on having a robust social media and public relations presence to ensure that when a family is diagnosed with a creatine deficiency, it’s easy to find our organization and get the support families need. We have an active and positive international support group. It’s a safe place to seek help and support and people are very friendly.
Funding strategy: It’s a work in progress as with all nonprofits. We have grown over the years with different initiatives, like our annual walk. Our Holiday Heroes program has grown in recent years as we’ve given it a very specific focus of raising funds for CCDS (Cerebral Creatine Deficiency Syndrome) gene therapy research. This tangible goal really got a lot of people on board. Our strategy going forward is to continue to be transparent with our community and fundraise with a purpose.
What’s changing at your organization in the next year: We have very firm goals for 2021. We have very specific patient registry goals. We are launching our new registry on February 28, 2021- Rare Disease Day, and we are releasing a certain number of surveys throughout the year. 2021 will be a big year for the CCDS family and research community. We are going to complete an FDA listening session in 2021. We are supporting three fellows in 2021 to research CCDS and hopefully create lifelong CCDS scientists. We want to push even harder this year because we look at 2020 and what a challenge it was. I can recall meeting in the spring, and we had to make the hard decision to cancel our second symposium that was supposed to be in the summer of 2020. We heard from different researchers, “Our labs are shut down” and despite all of the struggle, 2020 ended up being a phenomenal year. We had a great virtual conference where we had new researchers participate who likely wouldn’t have come to an in-person symposium. We reached out, we scrubbed PubMed, found new papers that had come out on anything related to creatine deficiencies. We built our research network in 2020. I don’t think that would have happened otherwise. We’re going to take what we learned in 2020 and magnify it this year. I believe 2021 will be our best year yet.
Management philosophy: My management philosophy is based on goals, trust, and support. Each board member heads a committee and has very tangible goals for the coming year. I trust everyone’s approach. I stay in the know and in contact with everyone. I like to be on as many calls as I can, but I’m not a loud voice. I’m a listening member of those calls. I like to keep my finger on the pulse of our organization and know that we’re all rowing in the same direction, but I don’t like to micro-manage because I like people to join our board, or our ambassador group, and find their passion. I feel like when you identify what you’re passionate about, you’re going to do your best work.
Guiding principles for running an effective organization: Having a clear vision and goals that everyone on board understands and agrees to. We work hard to define and redefine our goals as a team. That unites all of our actions and keeps us going in the right direction.
Best way to keep your organization relevant: Pushing ourselves. Pushing, pushing, pushing. Nonprofits are interesting and unique because they start out as an idea for everyone and some of those ideas are gentle and some of those are aggressive, but it’s still an idea that you decided to take on. You are free to work as hard or as little as you choose. You’re not being paid. It’s all volunteer work. We have one paid employee and she’s a great employee. But the rest of our seven-member board are all professionals who are parents of children with creatine deficiencies. We are not being paid. We are here out of genuine love of the mission. Sometimes in nonprofits it can be comfy and cozy and friendly. To make progress, I felt like the best thing that has happened to me is that I’ve pushed myself into doing things that are difficult and push me out of my comfort zone. We get out there and recruit these people who are experts. They are MDs and PhDs, and we are encouraging them to pivot their work, to focus on creatine deficiencies. That can be uncomfortable- we can feel like salespeople. That’s not the most comfortable role for me. I’m not a natural salesperson, but when you’re selling something you believe in you sell it. And you do these uncomfortable things because if you don’t, and you just are sitting back and waiting to see what happens, you’ll miss your chance to make a difference. You can’t look at the measurables and take any credit for that. We really want to do that. We really want to say, “We are making a difference.”
Why people like working with you: I am empathetic, and I want everybody who is in our organization to be happy and fulfilled and to be doing something they enjoy. Even though I talk about it being uncomfortable and difficult, I want them to be doing something they’re passionate about because I know it will be more rewarding for them. Not only will they do better work, and they will do more for ACD, they’ll love it. And they’ll, they’ll get addicted to this hard work, just like I am, and they’ll call this their hobby eventually. I try to help others find their voice and find their place and their passion and trust and empower them and believe in them. I do what I would want someone to do in my shoes.
Who has mentored you: It’s a combination of people that I’ve taken bits and pieces of their approaches. Our previous president, Whitnie Strauss, was very organized, very professional, and focused on putting our best face forward. She did so much for us, and I learned a lot from her. She had a real focus on marketing and public relations and how we present ourselves. I think that’s very wise and a good move for a nonprofit because nonprofits can be very family cozy and come across as unprofessional and not be taken very seriously. I am trying to maintain the groundwork Whitnie laid. Also, our director of research, Laura Trutoiu. She challenges everything for the sake of finding the right answer. She’s helped me to learn to lean into what’s uncomfortable and figure out: What’s the value of it? Why is it uncomfortable? How can I push past that and do the hard things that are best for the org? Really, our board is so collaborative, each board member has taught me and mentored me in one way or another.
On the Job
What inspires you: It inspires me to see us moving forward. It inspires me to see that we have a vision and that I can measurably see that we have made progress towards that vision. In the end, this is going to change people’s lives. It might not change my family’s, but I know what other families will go through. The thought of people with creatine transport disorders one day getting diagnosed and immediately being put on a treatment is motivating and inspires me to work harder each day. My daughter was diagnosed when she was five and her type of creatine deficiency is treatable, but there’s not a lot you can do at five. You can stop the progression of the disease, but you can’t turn back time. She has seizures. She is intellectually disabled. She will always live with my husband and me. I have a son who was diagnosed at birth only because we knew that he had that one in four chance of having the disorder. He’s nine and he is fine. He’s great. He’s going to live on his own and he’s going to do whatever his life choices are. He gets those choices to make. My own experience with GAMT inspires me to help others. The thought of these new families who might possibly get a newborn screening for GAMT is inspiring. I know they will probably mourn that their child has a disease that they weren’t expecting. But they will be able to treat their child from birth. They’ll probably feel like it’s a pain to do, give their child these treatments and everything, but they’ll never fully grasp how fortunate they were, and that’s great. I’ll be thrilled. I want that for them. I joke that I want a treatment for CTD and newborn screening for GAMT and AGAT so we can close our doors because no one will need us anymore. That’s what I want. I want to be a cozy, family support group that has all this hard stuff checked off the list, with the happiest and healthy CCDS individuals possible.
What makes you hopeful: I’m hopeful because of an incredible research community that is working on creatine deficiencies. They are all open and giving and genuinely interested in the diseases. I mentioned we had the gene therapy focus for our Holiday Heroes last year and this year. During 2020, we launched a Gene Therapy Consortium with different researchers that are either already looking into gene therapy for creatine deficiencies, or they’re interested in it. We have quarterly meetings. In those meetings I have heard researchers correct other researchers and give them tips and tricks to skip ahead. “Don’t do this”, “do this”, or “you’ll need to do this”. This is where I know we are making a difference because we’re taking these people, bringing them together, and getting them to talk. They are good people. They’re open. They’re friendly and willing to talk, but we’re providing a platform and I don’t know how else that would have happened. These researchers would have worked in their silos and not had other people mentoring them. It would have taken years longer. We’ve also given gene therapy awards to help fund the work. We’re not done yet, but this gives me hope.
Best organization decision: The best decision was pivoting to have more of a growth mindset—to grow, and to push outside of our comfort zones and expand our board to get more focused and get a firmer, more defined voice in how we support research. That’s been huge for us. It’s changed us from being a great patient support organization to also being an organization that is driving change and supporting- even pushing- research. Before, we wanted treatments. We wanted cures. We wanted to see doctors work together and help each other. I don’t think we quite knew how big of an impact our efforts could have. Focusing on that, focusing on a research strategy, expanding, and having an aggressive vision for implementing what we need to do to get there- that’s made a big difference.
Hardest lesson learned: We had one pharma company working on a treatment for several years. They were lovely people and sat down with us at breakfast at a conference and told us that they weren’t going to be able to carry on. That was a hard lesson to learn—to never think something will work out and feel comfortable or settled or take the status quo and just wait to see it play out. The lesson learned there was, “All right, let’s spread ourselves everywhere. We need to support anything that has potential.” The lesson learned was it doesn’t always work out. We need tools and we need approaches that will be everlasting for any research that comes along. We need to cast a wide net.
Toughest organization decision: It is tough to decide to change. Like I’ve said, leaning into the hard stuff, the big changes, the discomfort- is hard. It’s hard, but it’s been worth it every time. Our first symposium was a very tough decision. We worried- will people come? Will this be a success? It was a ton of work, but it turned out to be a great decision and a very successful symposium. No one is holding our hand and telling us the right course to set out on. Every new thing we launch has the potential to fail. No decisions are easy. And the stakes are high, so we can’t take our decisions lightly.
Biggest missed opportunity: Missed opportunities are all around us as rare disease parents and it’s what we all struggle not to focus on and not to punish ourselves about. My missed opportunity is when my daughter missed her first milestone and why I didn’t freak out – why I didn’t scream and shout and demand more attention the first time she got the first diagnosis or the next diagnosis. In a rare disease organization, it’s similar. We figured something out. We can easily look back and ask why didn’t we figure this out sooner? We should have launched a gene therapy consortium two, three years before. That’s chronic. I’m always going to kick myself if I do anything right. Why didn’t I do it right sooner? But at the same time, as a tortured rare disease parent, I’ve come to learn that our only real choice is to work hard and do our best because looking backwards just means we can’t walk as fast or straight, so let’s keep our eyes forward.
Like best about the job: I like the hope this work gives me. I like the exciting things that happen, where I learn of progress in a lab or in a bill or anything like that and I see the CCDS future is slowly, but surely changing. It’s a wild ride that a lot of people don’t even know is going on and I get to be right in the thick of it, and hopefully be a part of helping move the needle.
Like least about the job: What I like least about the job is that I don’t have more time to give to it and it’s the kind of job you could put in 24 hours a day and never be done. Like a lot of people, I’m trying to get through a pandemic- helping a daughter with special needs and three other children with distance learning, working a full-time job, being a wife, and only being able to devote a portion of my time to ACD. It’s hard. I would love to give ACD all of my time. Thankfully, we have a devoted and active board, ambassadors, a full-time employee, a scientific advisor, a patient registry coordinator, a Scientific Medical Advisory Board, and others all carrying this forward with me.
Pet peeve: Dishonesty.
First choice for a new career: Metabolic geneticist or genetic counselor
Most influential book: The Sun Does Shine: How I Found Life, Freedom, and Justice Anthony Ray Hinton, Lara Love Hardin
Favorite movie: Gone with the Wind
Favorite music: ‘70s rock, classic ‘80s. My music is all over the place- mostly old stuff.
Favorite food: Chocolate
Guilty pleasure: Reading a book.
Favorite way to spend free time: Camping with my family.
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