Kinsley’s Diagnostic Journey
Rare disease diagnostic journeys are often long and brutal, filled with uncertainty and heartache. For our family, this journey began when Kinsley was just a week old. What seemed like a simple feeding issue turned into a relentless quest for answers, filled with countless doctor's visits, therapies, and tests. This is our story, a journey marked by resilience, advocacy, and an unwavering commitment to finding a diagnosis. It's a story of how we discovered Kinsley's TUBB4A mutation and how it transformed our lives, driving us to support other families facing similar battles.
Kinsley was just a week old when I noticed something different about her. She could only nurse on one side, no matter how much I tried to get her to nurse on the other. Desperate for answers, I took her to my chiropractor, who noticed some tightness and suggested she might have torticollis. Seeking a second opinion, I went to our pediatrician, who dismissed the concern, reassuring me that Kinsley simply had a preference. Despite my instincts telling me otherwise, I continued to work on it, hoping she would improve. At Kinsley's four-month well-check, our pediatrician finally acknowledged that she did, indeed, have torticollis and recommended physical therapy (PT). We began PT immediately, and while Kinsley met her milestones, she only army-crawled. Feeling that we weren't progressing, I sought help from a widely respected PT in the area who combined chiropractic care. By 14 months, Kinsley was crawling on all fours and considered caught up, so we stopped PT.
However, when Kinsley turned 18 months, she still couldn't stand independently or walk, even with assistance. We returned to our original PT facility for an evaluation, but it was not a good fit. Fortunately, one of our current PTs, whom I consider an absolute angel, took Kinsley on for an evaluation and connected us with another excellent PT. During a visit to a friend, someone noticed that Kinsley tilted her head back to see anything at eye level or above. Concerned, we took her to an ophthalmologist, who diagnosed her with "new onset nystagmus," a condition not present during her previous visit. The ophthalmologist suggested two possible causes, one being a brain tumor, and recommended an urgent MRI.
The process of getting an MRI was a nightmare, leading us to switch insurance for better coverage and options. The MRI revealed no tumor but indicated less white matter in Kinsley's brain than normal. We were referred to a neurologist, who deemed the MRI generally normal but recommended a follow-up MRI in six months. As we continued with PT, our therapists noticed new tone in Kinsley's legs. They helped us secure an appointment with a movement specialist neurologist. Around Kinsley's second birthday, this neurologist observed symptoms of both cerebral palsy and acquired dystonia and suggested genetic testing "just in case."
After repeating the MRI, results consistent with a genetic condition led us to a clinical geneticist, who recommended a CP panel. Several months later, the genetic tests confirmed Kinsley had a TUBB4A mutation. Our meeting with the geneticist was sobering, as it was their first experience with this condition, leaving us mostly to navigate this new reality on our own. From that day forward, our mission was not only to be the best advocates for Kinsley but also to support other families facing similar journeys. Those first scary days can feel isolating and overwhelming. Our foundation is dedicated to providing the support and information we wished we had, ensuring no family has to face this path alone.
We invite you to share your own story to help raise awareness and support others. To do so, please visit the link below.
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