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. She was our first child and we took so much delight in her outgoing personality. However, at six months of age, a small circular rash appeared on her inner thigh. After a visit to the pediatrician, we were assured it was eczema. 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 dismissed or misdiagnosed with simple explanations, we finally were told she had juvenile idiopathic arthritis and her case was 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 two to three times a week for therapy and appointments. As a two-year-old, she learned to swallow pills and received shots twice a week at home, including a top-tier, aggressive medication called Enbrel. However, the disease was not responsive to the treatment and her symptoms became more severe, drastically impacting her quality of life. Her ankles would bleed from the pressure of shoe straps on her swollen feet, stomach discomfort impeded her ability to eat, and she often cried from pain. Needless to say, this was an extremely stressful time.
Finally, at two years and eight months, almost a year after her initial diagnosis, Keira started receiving Remicade infusions, a different biologic drug. It was difficult to watch my two-year-old daughter in pain and now being subjected to eight-hour Remicade infusions which included high doses of steroids. Amazingly, two weeks after her first infusion, we saw real improvement! In fact, I felt like we 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 daily pill regimen.
Convinced another disease was causing her symptoms, I scoured academic literature and found a journal article detailing Blau syndrome. The photos, the description, the outcomes all mirrored Keira's journey of the past two years! Keira's rheumatologist submitted a blood sample for testing, and two days after Christmas 2011, I 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 that we were now facing Blau syndrome, a more challenging and rare diagnosis, we set out to learn how we could help our 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! Naively, when she was first diagnosed, we assumed there were pharmaceutical companies launching drugs for Blau syndrome and scientists around the world working to help this disease. Sadly, we soon learned there was a very small number of dedicated scientists and NO drugs in development to target Blau syndrome.
Keira is now 16 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 200 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. She has also participated in several experimental procedures and tried many drugs without success.
While we are thankful we have a treatment plan that helps reduce symptoms of the disease, it is not enough. Her disease is not in remission, she experiences multiple side effects from the medications and she spends a significant amount of time at the hospital with doctors. Not only does she have active rheumatoid-like arthritis but also mild uveitis, severe GI discomfort, problems with granulomatous inflammation on her skin and parotid glands, and she requires daily injections of growth hormone to combat the growth-stunting effect of 13 years of daily steroid use. She requires multiple specialists for care, including rheumatology, gastroenterology, endocrinology, ophthalmology, orthopedics, occupational therapy, physical therapy, hematology and psychology. Due to worsening symptoms, she was hospitalized twice in 8th grade and ultimately pulled out of school for a homeschool program that could accommodate her absences. Simple activities like taking notes in school cause extreme discomfort in her wrists, and when inflammation in her feet occurs, walking is difficult. We have seen activities like dance and tennis stripped away due to pain, and fears about participating in other extracurriculars emerge. Her NOD2 inflammation triggered a rare blood disorder, mast cell activation syndrome (MCAS), which necessitates two infusions a week plus at-home treatments. Relatedly, a co-morbid autoimmune condition called postural orthostatic tachycardia syndrome (POTS) also developed, which has big effects on her quality of life. After being in the auto-inflammatory treatment world, we have learned that having one disease often predisposes you to another.
Despite all she's been through, Keira has a resilient joy and love for life. She has amazing friends and family and is in her second year of high school, attending part-time to accommodate her health. This journey has also brought some amazing medical professionals and families into her life whom she would otherwise never have met. In fact, most people in her life aren't aware of her health struggles as she strives to live as typically as possible. The saying “friends are the best medicine” is 100% true in her case!
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 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!
