Keira was six months old when the first symptom appeared: a small rash on her leg. The next year was followed by visits to multiple specialists until she received a diagnosis. At this time, almost every detectable joint was inflamed with arthritis, a persistent rash covered her body, and she was in constant pain. She visited the local children's hospital 2-3x a week for therapy and specialists' appointments. As a two year old, she learned to swallow pills and received injections twice a week at home. However, the disease was not responsive to the treatment.
Finally, at two years and eight months, almost a year after her initial diagnosis, Keira started receiving Remicade infusions. Within two weeks, her symptoms improved. Her family felt like they were seeing the "real" her: a child who was free from daily pain.
Over her life, Keira has received more than 80 infusions in addition to a daily drug regiment. While her family is so thankful they have a treatment plan that helps manage the disease, it is not enough. The disease is not in remission, she experiences multiple side effects from the medications and spends a significant amount of time at the hospital with doctors. She not only has active arthritis, but uveitis, gastrointestinal issues,problems with granulomatous
inflammation on her skin and parotid glands, and now must begin daily injections of growth hormone.
Despite all she's been through, Keira has a resilient joy and love for life. She is passionate about acting, singing, and traveling. Spending time with friends and her many cousins brings her so much happiness! This journey has also brought some amazing medical professionals and families into her life who she would otherwise never have met.
With the advent of genetic therapies and increased interest in the genetic etiology of Blau Syndrome, it is her family's hope that an actual cure may be on the horizon--one that would help her live a hospital, pain, and treatment-free life. We would love for you to partner with us in this journey!