RARE Daily

Rare Leader: Nikki Stusick, Co-Founder, President, and Executive Director of The TBCK Foundation

February 10, 2022

The Basics
Name: Nikki Stusick

Title: Co-founder, president, and executive director

Organization: The TBCK Foundation

Social Media Links:

Disease focus: TBCK or TBCK-related encephalopathy is a rare neurogenetic disorder. The disease is autosomal recessive (meaning both parents have to carry the same mutation for TBCK.) There are variants within the disease, one specifically known variant is found in the Caribbean region and is what scientists call a “founder variant” it is called the “Boricua mutation” p.R126X. This specific variant is associated with a more severe version of the disease, sometimes called TBCK-encephaloneuronopathy. As of 2022, there are about 100 cases worldwide, with the oldest patient in the second decade of life. Persons impacted by TBCK Syndrome battle epilepsy, severe hypotonia, intellectual and physical disability, and a spectrum of symptoms.

Headquarters: Stevensville, Michigan

How did you become involved in rare disease: My son, who’s almost 5, was diagnosed with TBCK syndrome a month after his first birthday. We spent his first year of life going specialist to specialist trying to figure out why he was developing differently than peers. When he first got a diagnosis, there were very limited resources. There were a few journal articles, but beyond that there was no support group or community. A few weeks after diagnosis, our family along with another recently diagnosed family, started a Facebook support group for TBCK Families that is still going today. Although there was yet to be much of a TBCK community, we did find that there were TBCK researchers at CHOP. We went out to meet them so they could help us to get a better understanding of Theo’s condition and when we asked what else we could do, they mentioned that some families start a rare disease foundation to help build a community and advance research. The rest is the story we have been writing for the past few years.

Previous career: Eighth grade teacher

Education: B.A. in Elementary Education (minors in Integrated Science and Language Arts) Calvin University; MSW (focus on Interpersonal Practice with Children and Families) from University of Michigan

The Organization
Organization’s mission: The TBCK Foundation’s mission is to improve lives of those impacted by TBCK Syndrome through advancing research, leading education and advocacy, and connecting families.

Organization’s strategy: Our organization’s strategy has always been patient-centered. When our son was diagnosed in 2018, about 40 kids had the condition, now we are at around 100 patients, so our community has grown, but remains small. Our strategy is first and foremost about connecting families and giving them a place to land once they are diagnosed and a community to learn alongside. That works in tandem with our continued efforts to raise funding for research. Finally, there is so much work needed in the way of connecting mainstream society to disability education and rare disease advocacy- that is a filter all of our work goes through.

Funding strategy: Our funding strategy is evolving. We have always been a bit more grassroots, generating funds from campaigns within our community. One of our proudest strategies was in our first year of operation launching a charity 5K race called, Race for Rare Kids. In our second year, we were accepted as a grant partner in The Million Dollar Bike Ride matching grant program. We recently kicked off our third TBCK Syndrome Awareness Day (February 1) and saw donations coming in from all over the world. With those efforts, we have been able to fund three separate grants to three different research groups. This year, we are so deeply proud to be one of the recipients of the Chan Zuckerberg Initiative Rare As One grant, which changes the landscape and scope of our fundraising for the next three years. We are so excited about how this opportunity can have an impact on our work.

What’s changing at your organization in the next year: As just mentioned, the CZI RAO grant will have a drastic impact on this year and the years to come in virtually all aspects of our work. Specifically, the grant is going to help us strategize, build, and structure ourselves to expand the scope of work that our parent leaders do. “Capacity builds capacity” as they say.

Management Style
Management philosophy: First, it is a privilege to be able to even answer this question in the role of a leader in a rare disease community, I don’t take that lightly. Management for me means being a part of the team, asking a lot of questions, being open-minded, inclusive, and always moving forward in a genuine, compassionate, and transparent way.

Guiding principles for running an effective organization: We are guided by centering the needs and voices of our TBCK community; our work must be reflective and inclusive of who we are fighting for, our kids and young people. Staying focused on why we exist; our focus is always on improving the lives of families impacted by TBCK Syndrome, whether that is pursuing research funding, providing education, or leading advocacy.

Best way to keep your organization relevant: As long as there are patients diagnosed with TBCK Syndrome, then our organization is relevant. Our focus begins and ends with being patient centered. In a broader sense, I think the battle a lot of small, rare disease foundations like us face is that our families’ experiences can seem distant to the mainstream experience, so staying relevant is a challenge. We counter that with an approach of centering the stories of our TBCK families, helping to educate with what families with disabled kids look like, what a neurodegenerative disease like TBCK Syndrome means for someone, and how small contributions can combine together to have big impact.

Why people like working with you: There’s a mutual understanding among people seeing someone doing everything they can for someone they love. I know at least for me, I gravitate towards that and have a deep respect for it and I think others may have that experience too. I hope that people find me approachable, genuine, compassionate, and dedicated. I try to make it as clear as possible how much I care and that although I never had plans of leading a rare disease foundation, I always knew that my life would involve giving back in some capacity, so now I just get to do it fighting for my favorite little boy on the planet and “all his friends.”

Mentor: I feel fortunate that I have had formal and informal mentors throughout my life who I think all have impact on my approach to my role in this foundation. Specific to rare disease, I don’t necessarily have one individual who comes to mind but have been influenced and learned so much from other rare disease advocates through social media, Global Genes Foundation Alliance Group, and the broader rare disease sphere. ADNP Kids Research Foundation, Team Telomere, Grin2B Foundation, and Gwendolyn Strong Foundation are some that inspire me and now getting connected to so many other rare disease groups in the Rare As One Network is so exciting.

On the Job
What inspires you: Of course, my son and my family inspire me in this work, but it is also the families in our community. Knowing their stories, even if it is just a sliver, is the fuel to keep on with the work we have been building the past few years. I have a personal relationship, a friendship, with a lot of the other parents in our community, so the work becomes personal very quickly.

I am also inspired by different foundations because of the work they’re doing, what they’ve accomplished, how they’re supporting their families, and how they’re engaging with research. I’m so motivated by that big picture work of what seems like a small, kitchen-table organization like ours, how that can evolve and grow to have an impact and make a true difference in improving the lives of people impacted by rare disease.

What makes you hopeful: I like to say that working in rare disease advocacy and disability advocacy is working in the business of hope. To be here doing any of this work means that we believe that things can get better, cures can be found, treatments revealed, and that lives can ultimately be improved. Rare disease is so unpredictable and can take so much from the people that are impacted by it, but hope stands against all of it. What makes me hopeful is seeing the “wins” both big and small. Whether it is knowing that two families got connected in our community, so they feel less alone, or seeing a donation check come in from someone who initially had no connection to rare disease but was moved by a story of someone in our community, or hearing about one of our kids with TBCK Syndrome’s whole class wearing teal to show support for TBCK Syndrome Awareness Day—all of it brings me so much hope.

Best organization decision: The best organization decision is probably just diving in head-first and going for it. I look forward to the next five years when I can hopefully build on that answer.

Hardest lesson learned: The hardest lessons learned are that not everyone will share your passion and enthusiasm for the work of the foundation, not everyone will understand the urgency and reality of living with rare disease, and finally that you simply cannot do it all.

Toughest organization decision: One of the toughest organization decisions is reconciling how families can be asked to fundraise on behalf of the organization while also managing the strain of supporting their child with an intensive diagnosis like TBCK Syndrome, which demands resources of every kind: financial, emotional, physical and more. Most kids require full-time caregiving: diaper changes, feeding, mobility assistance. It’s tough, but we want families to engage in our work in the way that is the best fit for them.

Biggest missed opportunity: As an optimist, I want to say we haven’t had one. Hopefully, that’s true. So far, I think we’ve been trying to harness the momentum of being a young organization and a community so eager to help their children. We’re a little bit like that Hamilton quote: “young, hungry, and scrappy.” That’s us.

Unfortunately, I believe Covid struck us in only our second year of operation causing a shockwave that impacted all aspects of our work and that ultimately feels like a very big, missed opportunity. We missed out on time to help sick kids that urgently need support, intervention, and a cure. Obviously, that is beyond our control, but it is an unfortunate reality of the times we live in.

Like best about the job: It gives my life a lot of purpose and has helped me to channel a lot of the challenging aspects of caring for a child with a rare disease into a tangible way to make a difference and find healing from a lot of the anticipatory grief. More specifically, I love the advocacy component of the work: sharing the stories of our kids, the creative projects, connecting with other rare disease advocates, and event planning.

Like least about the job: For the most part it has been me in the central role of all aspects of the foundation, so it kind of has no borders of where it starts and ends. There is always so much that can be done, but as a full-time mom of two (almost 3), my kids’ always come first, so code-switching between mom and “work” is a daily challenge. I do this all volunteer, so it’s a “job” that I do at naptime and bedtime and can only do it with the support of my husband and family.

Pet peeve: My pet peeve is negativity. There’s always a place for kindness, assuming positive intent, and self-reflection.

First choice for a new career: A lot interests me, so I could see several different things. Perhaps a social worker for families of medically complex children, being a children’s author, even a graphic designer, but for now I am where I am supposed to be.

Personal Taste
Most influential book: Raising a Rare Girl by Heather Lanier

Favorite movie: My Cousin Vinny, Up, and Love Actually

Favorite music
: It changes daily, but oldies, folk, pop, rock- my 2 year old recently discovered our record player, so anything she puts on.

Favorite food: Probably peanut butter anything

Guilty pleasure: Putting my kids in matching outfits, house rehab shows, and too many cookies

Favorite way to spend free time: Outdoors with the people I love.



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