My Story by Tanya Bland

Kaylee was born on June 22, 2013, perfectly healthy with ten little fingers, ten little toes, and a head full of dark hair. She hit all her milestones with an adorably cheeky personality to boot. Kaylee bounced into her toddler years, earning the nickname “Little Tigger” for her rambunctious and fun personality. She then flew into her preschool years as a tom-boy princess. Kaylee has always loved playing in the dirt and mud, all while wearing dresses. Princesses, unicorns, mermaids, fairies, and secret hideaways are the essence of Kaylee’s amazing imagination.

At age three, Kaylee began falling regularly, and I knew something was wrong. Kaylee’s pediatrician passed this off as being a “Clumsy toddler.” Her pediatrician witnessed a fall during a follow-up visit, resulting in a referral to an orthopedic surgeon and then onto neurology, who diagnosed her with Cataplexy. While researching, I realized Kaylee truly did not fit this diagnosis and knew this was not the answer. In addition to falling, Kaylee was now experiencing ticks plus moments of cognitive regression. Watching this happen broke both mine and her father’s hearts, and started to worry her brother and sister. There were times she forgot where the bathroom was, forgot the letters of the alphabet she had learned, then forgot how to spell her name. Our hearts sunk even further. It took over a year of advocating, blood, sweat, and tears to convince doctors Kaylee needed other in-depth testing and did not have Cataplexy. Over the next two years, she was seen by several doctors, ordering multiple tests, all while Kaylee’s symptoms worsened and became more frequent. We kept on fighting.

On February 18, 2020, Kaylee’s geneticist diagnosed and confirmed a rare genetic mutation on the IRF2BPL gene. Approximately 20 other kids worldwide had been diagnosed with this rare genetic disease. Our family watched Kaylee experience neurodevelopmental disorder with regression, abnormal movements, loss of speech, and most recently, seizures. Due to disease rarity, we have gone through a roller coaster of emotions from hoping and praying for answers to Kaylee’s ailments and decompensation to the harsh reality of being told there is not enough research to identify a cure, let alone develop medication to slow down the progression.

Being given this diagnosis was devastating and heartbreaking enough, but going through this during a pandemic was and still is exceedingly lonely. The biggest gift I received from talking with another rare disease mama was how important it was to look for the joy in life. Our family decided this is our new “Family Attitude” and how we will live. We celebrate the little things like the joy of a silly dance, Kaylee’s therapies with Rapunzel (her pet chicken) or Sugar (her guinea pig), and creating memories with her brother and sister going on treasure hunts. We started a tradition of talking each night before bed to share our “Happy/Joyful” moments of the day. Kaylee is and will always be a warrior and a fighter.

Guest post by Tanya Bland, Rare Mama to Kaylee