Hezekiah’s Journey: A Story of Love, Advocacy, and Strength

By Kiante and Marlon Holmes

I remember the day like it was yesterday, although it was eight years ago. It was just a regular afternoon, and I had gone for a routine imaging appointment during my lunch break. I was a little over 20 weeks pregnant, excited to see how our baby was growing. As the technician moved the wand over my belly, I listened as she counted—“one, two, three”—then silence. She stopped counting fingers at seven. My heart began to race. Then she said something about the heart, but before I could ask, the doctor came in. His expression was serious as he told me I needed to go downstairs for further imaging.

I was alone. My husband, Marlon, wasn’t with me, and I had no one to process this with. They took more images and then left me in the room—waiting, alone, for what felt like hours. I heard a woman in the next room crying, and my chest tightened. A deep, sinking feeling set in. I, too, began to cry, realizing that being in this office, in this situation, wasn’t a good thing.

The doctor eventually returned, suggesting additional testing. Confused and overwhelmed, I left the office and immediately called my husband. “We need to see a specialist,” I told him, my voice shaking. Over the next few weeks, we followed up with more imaging, more appointments, more uncertainty. They gave us a possible diagnosis—Holt-Oram Syndrome—but told us they wouldn’t know for sure until our baby was born.

A New Beginning, More Questions

When Hezekiah arrived, the doctors quickly ruled out Holt-Oram Syndrome. But new concerns arose. He was born small for his gestational age, had breathing issues, concerns with his heart, and was missing two fingers on his left hand. The medical team was unsure of how to proceed. They ran genetic tests, hoping for answers. But the results provided none—only a vague diagnosis of global developmental delay.

As months turned into years, we watched Hezekiah struggle to grow, eventually being diagnosed with failure to thrive. We had so many questions, but no clear path forward.

Then, when Hezekiah was four, we saw a geneticist who suggested testing again. “We already did genetic testing when he was born,” we told them. But the doctor encouraged us to try again—science had advanced, and it wouldn’t hurt.

On October 20, 2021, we received a phone call that changed everything. “We have a diagnosis for you,” the geneticist said.

Confused, I called my husband on a three-way call. For an hour, we listened as they explained that Hezekiah was only the second person in Oregon—and the first child—to be diagnosed with Kleefstra syndrome.

The geneticist reassured us that having a diagnosis was a good thing, but there was a catch—Kleefstra syndrome was rare. There was very little research, and even less medical guidance on what to expect.

As soon as I hung up, I did the one thing every medical provider tells you not to do—I Googled it.

Reading about Kleefstra syndrome made me cry. But it also made me smile. For the first time, I saw pictures of children who looked like Hezekiah. He wasn’t alone. We weren’t alone.

The Journey of Advocacy

The diagnosis didn’t mean we suddenly had all the answers, though. If anything, it meant we had to fight harder. Hezekiah’s doctors had little information beyond what we could find online. We often found ourselves in the position of educating them about his condition. Insurance companies required hours of phone calls and endless paperwork just to approve the basic services he needed.

When it came to school, things were even harder. At the moment, Hezekiah attends ABA therapy for six hours a day instead of school, with hopes of rejoining a life skills classroom in 2025. As parents in the education field, we have seen firsthand how much work still needs to be done to support neurodivergent students. Funding is limited, resources are stretched thin, and inclusivity still feels like an afterthought. We advocate not just for Hezekiah but for all children who need equitable learning environments.

The Light in Our Lives

Despite the challenges, Hezekiah is our joy. He is persistent, strong-willed, and stubborn in the best way possible. He loves basketball—watching it, playing it, even learning to walk because he realized he couldn’t hold a basketball and use his walker at the same time. He loves watching his brothers and cousins play, rewatching games on YouTube, and cheering along.

He also loves worship music, water, dogs, and traveling. The moment he sees a suitcase; his face lights up. He knows we’re about to take off on an adventure.

Every day with Hezekiah is a lesson in perseverance, love, and joy. He has taught us to appreciate the small moments, to embrace what makes life meaningful. His smile, his energy, and his presence are enough to turn any bad day around.

A Family by Fate

Through IDefine, we have found a community—our “family by fate.” Attending the organization’s family conferences is a priority for us. For four days, we are surrounded by people who get it. We don’t have to explain Kleefstra syndrome. We don’t have to feel alone. We can simply be a family, sharing laughs, information, and encouragement with those who understand.

Unfortunately, in Oregon, there isn’t a strong Kleefstra syndrome community. The geneticist told us there is only one other identified case in the entire state—an adult. But even without a large local network, we know we are never alone. Our KS family spans the globe, always just a message away.

Looking Ahead

Kleefstra syndrome has taught us to never take life for granted. To live with purpose, gratitude, and joy. To offer support to those who need it and to advocate for those who can’t.

Our greatest hope for Hezekiah is simple: that he lives a life filled with happiness, that he continues to experience the world in a way that best suits his needs.

And no matter what, we’ll be right there beside him, every step of the way.