In November of 2018, our family was surprised with the early arrival of our daughter Kinley, born at just 28 weeks gestation via emergency c-section. Due to her prematurity, Kinley spent her first 3 months of life in the NICU, receiving life-saving care while she continued to develop outside of the womb.
Early on, Kinley had obvious struggles. She was tube fed almost exclusively while in the hospital, and when she was finally able to come home, she struggled to gain weight, eat without aspiration, and meet her developmental milestones across the board.
As Kinley continued to grow, our family was expectant to see her start “catching up” and moving past her prematurity obstacles; but we didn’t. Instead we began noticing that her muscles were weak, and many areas of development were lacking. Kinley’s therapists and doctors attributed this to her prematurity and assured us that by the time Kinley turned 2, she would likely be close to the correct milestones. Kinley’s second birthday came and went, and she still wasn’t crawling, wasn’t sitting up, and wasn’t trying to speak. This was concerning for many reasons, all of which led to questions about her brain development and function.
In September of 2021 our family finally got some answers when Kinley was formally diagnosed with Pontocerebellar Hypoplasias. This is a rare, degenerative brain disease, affecting the development of the brain stem and cerebellum; often leading to physchomotor retardation. In other words, the areas of Kinley’s brain that control movement aren’t functioning as they should due to their underdevelopment.
While we were happy to finally understand what is happening with Kinley, our family has also been overwhelmed by the trajectory of this particular diagnosis. Individuals with PCH typically don’t live past 14 months of age. We have been fortunate in that Kinley will be 3 years old this November, and has been atypical of this diagnosis.
Where medical journals and doctors say that she shouldn’t be crawling, learning sign language, eating by mouth, or able to drink from a bottle; Kinley is proving them wrong. In the last year, thanks to countless hours of therapy, Kinley has learned to adapt to the world in a way that you don’t typically see in children with this disease. She is sitting, crawling, walking with the use of her gait trainer for short distances, learning to communicate through sign language, eating and drinking by mouth with almost no issues, and is the happiest, most social girl I know.
There are no treatments for PCH. It’s a disease that you just live with until the complications from it kill you; usually at a relatively young age. This is the part of the disease that is full of unknowns and that our family wants to prepare for. Should treatments become available, or new therapies that might improve brain function, our family doesn’t want to forego them due to finances. We would like to set up Kinley’s future for success no matter what may come, and we need help to do it.
Our immediate needs right now are transportation related. Our family vehicle is falling apart and needs the whole front end rebuilt before the wheels fly off. The cost to fix our car exceed the value of it. This vehicle also doesn’t have enough cargo space to fit Kinley’s gait trainer and wheelchair at the same time. We need a bigger vehicle so that we can safely transport Kinley and ALL of her equipment to her neurology visits across the state. This isn’t possible in our current car. Kinley will have many follow up visits across the state, requiring money for travel, hotel stays, and a more reliable vehicle that is able to accommodate Kinley’s medical equipment. We would also like to have funds set aside for treatment options not covered by insurance, and any medical equipment that we may need in the future. Specifically a pair of legs from trexo robotics that may enable Kinley to walk on her own.