The journey of Klairissa and Mike, parents to their son Calvin, has been filled with unexpected challenges and moments of hope. After two and a half years of marriage, the couple was thrilled to announce the arrival of their first child, especially since Calvin was the first boy in both families.
Klairissa recalls, “My pregnancy was fairly normal when it started. We were really excited and looking forward to having him.” However, complications soon arose during her pregnancy, leading to bed rest beginning at 28 weeks.
“At 30 weeks, they were telling us he was measuring really small, like he had just stopped growing. They didn’t know why it was happening. When I was hospitalized at 32 weeks, he was born at 35 weeks,” she shares.
While Calvin was born, the couple remained uncertain about his health. Initially, medical staff attributed his small size to placental issues, believing he would thrive outside the womb. However, things took a different turn as he spent two weeks in the NICU followed by subsequent hospitalizations. Klairissa says, “We were expecting a pretty normal postpartum experience, but instead, he spent two weeks in the NICU.” Two weeks after bringing him home, Calvin was re-hospitalized for a week, followed by another bout of hospitalization two months later, which heightened concerns regarding his health.
The family was referred to a specialized children’s hospital located four hours from their home, where a comprehensive evaluation of Calvin began. “They started doing a full workup, and had all these specialists come in,” Klairissa recalls. “They told us he has nystagmus, so his eyes weren’t moving correctly, and he has microcephaly, making his head really small and his features appear abnormal. All of a sudden, we were meeting with neurologists, cardiologists, geneticists, and ophthalmologists. It was shocking because we thought he was perfect.”
Despite undergoing numerous tests, answers remained elusive. The couple observed developmental delays in Calvin but felt a glimmer of hope when initial genetic tests revealed no abnormalities. Eventually, whole genome sequencing was conducted, which led to a formal diagnosis. Klairissa explains, “Calvin was diagnosed in May of this year when he was around 20 months old, after testing that started when he was just 2 months old. It took that long to get our formal diagnosis.”
Calvin was diagnosed with KARS syndrome, an ultra-rare disease resulting from a mutation in the KARS1 gene. This mutation disrupts cells’ ability to produce enough energy, impacting the nervous system and major organs, including the brain and eyes. The couple was taken aback by the diagnosis. “It was very much a shock to learn that our son was living with this genetic condition,” Klairissa admits, adding that no one in their families has similar developmental challenges.
Neither Mike, a pediatric nurse, nor Klairissa, who works in speech therapy, felt fully prepared for the challenges they would face. Nonetheless, their backgrounds proved useful in making informed decisions for Calvin’s care.
“My husband has been my calm in the chaos, providing reassurance from the time Calvin was in the NICU. He reminds me that Calvin is our son, and he’s the light of our life. We love everything about him, no matter what,” Klairissa reflects.
At 2 years old, Calvin exhibits symptoms consistent with KARS syndrome such as microcephaly and frequent seizures, which have made daily activities a struggle for him. Klairissa elaborates, “He has multiple seizures a day, and though they are now hopefully controlled with medication, they significantly impede his ability to focus and engage.”
Calvin’s challenges also include motor delays and feeding issues, requiring special attention to ensure he has enough formula when away from home. “He can only crawl right now, which limits his interactions with children his age. We are trying to get mobility devices, but it is a slow process with insurance and everything else,” Klairissa explains.
Although hitting developmental milestones is not the same as they envisioned, the couple has learned to find joy in every accomplishment Calvin achieves. “The good days remind us it’s all going to be okay. We focus on what he can do and the positives to help navigate through the tougher moments,” Klairissa states.
Calvin enjoys daycare, therapy, and family time, with the family juggling a multitude of appointments, including physical, speech, and feeding therapies. Klairissa notes, “We are at the doctor’s office every week with various specialists, which requires a lot of coordination between us, especially since we both work full-time.”
While the lack of comprehensive research on KARS leaves them navigating a labyrinth of uncertainties, Klairissa has sought community support through social media. She joined Facebook groups targeting families affected by KARS and discovered the Cure KARS – Laia Foundation, which focuses on raising funds for gene replacement research.
“We realized we wanted to support their efforts and felt that putting Calvin’s story out there was a way to contribute,” she explains. Sharing their journey on social media initially made them apprehensive, but they quickly recognized its power. “As we began to tell our story, the support that poured in from friends was overwhelming,” Klairissa recounted, highlighting how it strengthened their resolve to engage with others.
The couple has also begun selling t-shirts to celebrate Calvin and support Cure KARS’ mission. Klairissa notes, “Before Calvin was diagnosed, I didn’t quite understand how families with rare diseases got by. Now I want anyone in a similar situation to know that while there may be limited research and guidance, there is still a community ready to support you.”
As they continue Calvin’s therapies, including essential support through physical therapy, Klairissa emphasizes the importance of perseverance and positivity. “Calvin’s therapy team has been our biggest cheerleaders, and seeing him happy and giggly is all that matters to us,” she concludes, underlining their unyielding love and commitment to their son’s well-being.
