When Nikki Stusick comes face-to-face with the self-correcting nature of science, she begins to question everything she thought she knew.

Nikki Stusick became a rare disease and disability advocate through parenting her now 7 year-old son, Theo who has been diagnosed two times over with two different rare disease diagnoses. She is the co-founder of The TBCK Foundation, advocate for the CAMK2 Therapeutics Network, and is currently building an all-abilities playground in her hometown along Lake Michigan called Kaleidoscope Playground with her family. She has a Masters of Social Work, Bachelors of Arts in Education, and most proudly is a mom to her and her husband’s three children.

TRANSCRIPT

When I was a kid, I used to keep this notebook where I'd put quotes and song lyrics I loved and wanted to remember. And now, as an adult, I'll screenshot things and I'm constantly putting things into the Notes app on my phone. But, there's a quote I never needed to put in a notebook in case I forgot because, as far as I know, my dad has been reminding us since, I'm assuming, birth about our family motto: “Never give up.”

The inspiration of the motto came from both of my parents; my mom, too. It was an ethos of perseverance to keep going no matter the curveballs life throws at you. As a teenager, I'd roll my eyes as they'd say it, but now, as an adult, I'm so thankful that it sort of seeped into my DNA. And that's sort of where my husband and I's parenting journey began: somewhere between DNA and curve balls.

I didn't expect to be thrown one from the moment we met our son, Theo.

During the first year of his life, we were going all over the city of Chicago to pediatric specialists. I wasn't collecting quotes, but I was collecting new words—all of these medical terminologies. First, it was hypotonia, which means low muscle tone, or is sometimes still called “floppy baby syndrome.” A few months later, it was visual inattentiveness, which meant that Theo wasn't responding to visual cues and stimuli in a typical way. And then it was subclinical seizures— hundreds of them, in fact, and he was having seizures, but you couldn't see them. And those were just the new words. We were also not strangers to colic, discomfort and barely sleeping. All of these symptoms meant we had formed a roster of these pediatric doctors and a list of health issues on his MyChart that just kept collecting new words.

Then, one Thursday in March, a month after his first birthday, we collected another one.

The results from Theo's whole exome sequencing genetic test were back. Prior to that, we had done several genetic panels, but nothing was found. This time, our genetic counselor shared they did find something on his report and that Theo had two variants in the TBCK gene. My variant was pathogenic, or disease-causing, and my husband, Turner's, was what is known as VUS or “variant of unknown significance,” which is just a fancy way of saying “scientists can detect this but they don't know what this one does yet.” So, even though Theo didn't have two clearly disease-causing mutations, his symptoms aligned enough with what was understood about the disease and that was enough information for him to be officially diagnosed with TBCK syndrome—a neurogenetic rare disease causing global developmental delays, intellectual and physical disabilities, epilepsy, and many other health issues.

The diagnosis confirmed what we had slowly come to accept over that first year of Theo's life: that his development was going to follow his own unique journey and that we'd have to reimagine what life with him would be like. The diagnosis was simultaneously heartbreaking but hopeful. We now knew where we belonged, well… mostly. Beyond some research papers you could find online, there wasn't much and there wasn't a designated or organized community. Through different online support groups I posted in, I connected with other parents and eventually me and another recently-diagnosed mom started an online support group for TBCK families on Facebook. From there, people kept finding us—not just in the US, but internationally. Everyone was so desperate for answers in connection just like us.

Through Theo's TBCK researchers at Children's Hospital Philadelphia, we learned about how affected families sometimes start advocacy organizations to support research of their child's rare disease. Soon after that, we launched Theo's Village: The TBCK Foundation, a nonprofit to do just those things.

For the next few years, I threw myself into this work. Going into it, I was motivated to seek answers for my son's disease, but it also became a form of healing and coping. It helped me channel unruly emotions and worries into something tangible. Ultimately, it was my way of never giving up. When parenting was really tough, when Theo was having a hard time, as he often did in those early years, this work helped me feel like I was doing something and allowed me to love him through it. Having a medically complex child means things are notoriously unpredictable, but, in spite of setbacks, we accepted our unconventional circumstances as a rare disease family and, most days, really embraced it.

At nap time and bedtime is when I did most of my work. Over the next two years, we saw our little community continue to grow. We funded research for TBCK syndrome, bringing families and researchers together through conferences, fundraisers, support groups. We even kept a float through a pandemic. Then, we got our best news: We were selected as one of the Chan Zuckerberg Initiative's Rare As One Network grantees. This was huge. I was so excited. It's such an honor. This opportunity meant we could better engage our community and drive research forward. All of the work building our network, beginning it all with a Facebook group years ago, was paying off in this really meaningful way. With this kind of support, we'd be able to help many more kids and families just like ours.

A few months after our announcement of CZI’s grant funding and a week after my third baby, I got an email from Theo's geneticist with a subject line “Theo Updates.” I opened it up thinking it was just a check-in, but as it turned out, this was not just a check-in.

Five years earlier, when we got Theo's whole exome report that led to his TBCK diagnosis, there was also additional information on that report. There were findings that Theo had two de novo mutations, which are genetic mutations that are spontaneous. They aren inherited, they just happen. At the time of the report in 2018, we knew that these mutations of his existed, but not what they meant. In 2022, the science caught up and we found out.

The geneticist’s email said that the new research had come out about one of Theo's de novo mutations called CAMK2D. Scientists had recently discovered that his specific gene mutation was disease-causing and that Theo, in fact, has this new syndrome. But, she wrote it wasn't clear, at that point, how TBCK was impacting him. In a way, it sort of answered why Theo had presented differently than some of the other TBCK patients over the years. But, overall, it was really confusing.

For a lot of the next year, we weren't 100% sure whether he actually even had TBCK. And considering we started an entire foundation and named it after him, I think a part of me preferred the confusion to the alternative. But, in time, it became more clear that the best explanation was that Theo had been misdiagnosed with TBCK syndrome and he was only a carrier for the disease. Instead, the science illuminated that CAMK2D, this other neurodevelopmental disorder and rare disease, was, in fact, his best diagnosis.

With all the ambiguity of diagnosis and misdiagnosis, the whole experience caught me in this loop of feeling like I had the wind knocked out of me, then I'd feel immobilized, then I was in denial, and then I'd catch my breath. I was stuck in that pattern for a while. This was a uniquely disorienting problem for, really, in a lot of ways, just me—as a rare disease organization founder and how it all impacted my advocacy.

For all the ways I felt like I was in a crossroads, you never would have known it from our little enigma, Theo. He was—and is—doing great. He's mostly been protected when it came to a care and medical monitoring perspective. What I mean is his care didn't really change with this diagnosis. He still has the same list of symptoms and the same roster of specialists. After years of struggle to get him comfortable, he's a very happy little boy. He has the best sense of humor, greets most mornings with a big smile, and his care continues on in the same way both at home and at the autism learning center he attends.

But, here we were, trading in all the problems of a TBCK diagnosis for a version of the same problems with a CAMK2D diagnosis. So, the twisted good news was that Theo didn't have any new medical issues to look out for, so far. But, the bitter reality was that CAMK2D was another rare disease without a clear pathway to a treatment, an intervention, a cure—just like TBCK. The other reality was that I had started a rare disease foundation for a disease my son no longer had. I knew I had to figure it out, but, wow, it was so hard to accept.

Letting go of a diagnosis that you built a community alongside others with, in a lot of ways, was even more complicated for me to accept than the diagnosis itself. Theo’s new diagnosis meant that we didn't fit in the TBCK community the same way anymore and I grieved the loss of that community and feeling like I knew where we belonged. As a mom, I also knew Theo's diagnosis story evolved and I had to evolve with it. I knew I couldn't stay in my role the way I had been advocating, but I couldn't just jump ship. I didn't want to let anyone down. I didn't want to give up. You remember my family motto. Channeling my energy into advocacy was the way I knew best to never give up. I wish I could say that things fall right into place, but the reality is they didn't. It's taken a few years and it's been very challenging, but eventually fellow parents and advocates have risen up to carry forward what our family helped to start. The foundation carries on into the next chapter and our family is moving on to ours, even if I don't feel like I found all the pieces yet.

Earlier this year, a scientific paper was published about Theo's new gene mutation. There's one place in the entire paper where the authors reference being puzzled. The paper reads: “And, as for individual number four, harboring the CAMK2G 210R variant might be more puzzling.” I nearly laughed loud when I got to that part—not a typical reaction, I realized that. But I knew without checking that individual number four was our Theo, and here he was again doing his specialty: puzzling some of the top minds and science once again.

If there's a phrase to capture what the last seven years have been for us, “Might be more puzzling” might also need a spot as a family motto. But, what I've learned is that being puzzled can mean you are on a search for answers, and that search have been some of the most meaningful parts of my life. When you work in the rare disease space as a parent, you learn to accept that sometimes the science you're helping to move forward may not advance enough to impact your own child's lifetime. But, the hope is that it could with someone else's in the future. You learn how a scientific breakthrough in one area might lead to a breakthrough in another. There's this interconnectedness with in the scientific community that ultimately improves and saves lives. Being in this community teaches you how to think in this expansive collective way and has brought me comfort over the years—and especially through this misdiagnosis.

I've had to relearn this in a very personal and challenging way that science evolves and diagnoses can change and all we can do is learn to adapt and recalibrate even to things we already felt like we've solved. I'm reminded of when we went to a developmental pediatrician in that whirlwind first year and he said this: “Unfortunately, I don't know the cause of your son's developmental delays, but I've been doing this a long time and people like your son, they tend to bring the best out of people.”

That's always resonated when I acknowledge my son is the one who propelled me into this work, but also, when I zoom out and look at our whole journey, I see imprints of this everywhere and all the remarkable people who've become these beacons of hope along the way and have shaped our story and I know will continue to walk with us as we define this next chapter.

I think sometimes in life we think we have an idea of what we're going to find or what is even going to happen, like if you start a foundation for your child's rare disease, that they actually end up having that rare disease. But, I found that things, in fact, might be more puzzling, but, that there's always more than one way to never give up. Thank you.