With the advent of meaningful genetic therapies and increased interest in the genetic etiology of Blau Syndrome, it is our 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 on this journey!
Keira was born on November 19, 2008 and quickly developed bouncing red curls and a gregarious personality! She loved attention and showed so much joy being around friends and family. However, at six months of age, a small circular rash appeared on her inner thigh. After a visit to the pediatrician, they were assured it was eczema and were provided with a list of ingredients to avoid. However, the rash continued to spread around her body, even into the whites of her eyes. Her locomotor skills were developing slowly and she often avoided using her hands. Our outgoing and joyful baby became fussy and was difficult to console.
After visiting multiple specialists for over a year and having her symptoms confidently explained away with questionable explanations, her parents finally were told she had Juvenile Idiopathic Arthritis and her symptoms were severe. Every detectable joint was inflamed with arthritis, a persistent rash covered her body, and she was in constant pain.
From this point on, her toddler years consisted of visiting the local children's hospital 2-3x a week for therapy and 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 and her symptoms became more severe, drastically impacting her quality of life.
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. However, mysterious symptoms persisted and she was maxed out on all available treatment with daily steroids, monthly infusions, weekly shots and a pill regiment.
Convinced another disease was causing her daughter’s symptoms, her mother scoured articles and read a journal article detailing Blau Syndrome. The photos, the description, the outcomes all mirrored Keira’s journey the past two years! Keira’s rheumatologist submitted a blood sample for testing and two days after Christmas, 2011, her parents received the call that Keira had one of the most common mutations of Blau Syndrome, R334Q. After years of searching, the mystery had been solved.
Equipped with the knowledge they were now facing Blau Syndrome, a more challenging and rare diagnosis, her family set out to learn how they could help their daughter. Locating other families was no easy task with a rare disease, but eventually we met the Townsin Family who had a vision to establish a non-profit Foundation to link families with Blau and advocate for a cure!
Keira is now 14 years old and faces daily challenges due to her disease. While individuals with this disease often look typical, they are fighting a hidden battle to keep their mobility, eyesight and overall health. Since her first diagnosis, Keira has received more than 100 infusions, weekly shots and a daily drug regimen. All of those treatments have side effects, often viewed as a necessary evil to fight Blau Syndrome.
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, severe GI discomfort, problems with granulomatous inflammation on her skin and parotid glands, and requires daily injections of growth hormone to combat the growth stunting effect of 12 years of daily steroid use.
Despite all she's been through, Keira has a resilient joy and love for life. She has amazing friends and family and started her first year of HS. This journey has also brought some amazing medical professionals and families into her life whom she would otherwise never have met.
With the advent of genetic therapies, Blau laboratories in Oregon, USA, and Leuven, Belgium, 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 on this journey!