Toddler Diagnosed with Rare Genetic Illness Impacting Less Than 50 People Worldwide (Exclusive)

New Parents Discover Toddler with Rare Genetic Illness Affecting Fewer than 50 People Worldwide (Exclusive)

Klairissa and Mike welcomed their first baby after some pregnancy complications, but were excited to bring their baby boy home. Over time, different delays and tendencies led the couple to explore possible medical reasons for Calvin’s rate of growth and development. In getting a KARS diagnosis, Calvin became one of fewer than 50 people worldwide with the condition.

A family of three’s vision of the future may have shifted, but there are still bright days ahead. Klairissa and her husband, Mike, had been married for two and a half years before conceiving their first child. The couple was excited to start their family. “My pregnancy was fairly normal when it started. He’s our first baby, and we were really excited and looking forward to having him. He’s the first boy in our family — I have four nieces on my side and he’s the first grandchild on my husband’s side.”

Complications began to arise around 28 weeks into Klairissa’s pregnancy, leading to her being put on bed rest. “At 30 weeks, they were telling us he was measuring really small, like he had just stopped growing. They didn’t know why. At 32 weeks, I was hospitalized, and he was born at 35 weeks,” she shares. When the couple welcomed Calvin, there still wasn’t a clear idea of what was happening with him medically. “They were saying, ‘He’s just small. Maybe it was your placenta. He’ll grow better when he gets out.’ We were expecting a pretty normal postpartum experience, but instead, he spent two weeks in the NICU,” Klairissa explains.

As doctors took a deeper dive into what Calvin was experiencing, the family was transferred to their nearest children’s hospital, four hours away from home. Testing led to more testing and appointments, without any concrete answers. Eventually, Calvin underwent whole genome sequencing, which led to him finally getting a diagnosis. “Calvin was diagnosed in May of this year, at around 20 months, after testing that started when he was 2 months old. That’s how long it took us to get our formal diagnosis.” Calvin was diagnosed with KARS syndrome.

Calvin, now 2, lives with many of the typical symptoms of KARS, Klairissa explains. “He has microcephaly, so a small head, which has led to seizures. He has multiple seizures a day. They are hopefully controlled now with medication, but they are absent seizures. Because he had multiple a day, it’s made it difficult for him to focus and engage with us. He has mystagmus, so his eyes are constantly moving. He has a really hard time focusing on similar objects, which has led to delayed motor skills,” she explains.

While milestones are also different than what she’d imagined, Klairissa and Mike have learned to embrace and celebrate all the milestones Calvin gets to enjoy. “The good days are really good, and I think that’s what reminds us that it’s all going to be okay. We just remind each other of those really good things that he can do and the really positive to get through those harder days.” Calvin gets to enjoy life as other toddlers do, in many respects. His days are split between daycare, therapy and quality time at home.

In looking for community, Klairissa started joining Facebook groups to connect to the few other families impacted by KARS, as well as the wider community of caregivers for those with rare illnesses. It’s how she became aware of the Cure KARS – Laia Foundation, which is currently raising money for gene replacement research for those with KARS. “[These other caregivers] were in the same situation as we were, and they asked, ‘What more can we do?’ So they made this foundation. When Mike and I connected with them, we really wanted to know what we could do to support that research. We realized the best way to do that was to put Calvin’s story out there,” the mom shares.

Mike, Klairissa, and Calvin have started offering a t-shirt that celebrates Calvin and supports Cure KARS’ efforts. They say it’s one step toward helping a community that has embraced the family. “Before Calvin was diagnosed, I didn’t quite understand how families with genetic diagnoses or even rare diseases got by. I think the biggest takeaway for me is that I want anyone who is in the same position to know that although there’s limited research and awareness, that doesn’t mean that people don’t want to support you and there isn’t hope,” she says.

“We want to get this research rolling on gene replacement for these kids with KARS. In the meantime, we continue our therapies. Physical therapy, specifically, has been the biggest support for Calvin just because he had really low tone and poor coordination. The low energy really impacted his motor development,” she continues. Klairissa appreciates that the therapy team has “just really been the biggest cheerleaders for Calvin.” They make it a little easier for Calvin to be his best self, “a giggly, happy toddler.”