Peyton is a 10-year-old with the KIF1A mutation, which she was born with and diagnosed at the age of 1 1/2. KIF1A is a rare brain disease that causes the cerebellum to thin out over time. There are currently only 400 known cases worldwide, and all have different variants. She was also born with PEHO syndrome (a rare, severe, neurodevelopmental disorder that causes progressive brain atrophy and intellectual disabilities) and has developed Lennox Gastaut syndrome (a rare, progressive epilepsy condition). The combo of these diseases gives Peyton the brain of a 6 month old, making her completely dependent on those around her. All of her conditions combined cause the following issues:
-seizures (epileptic spasms, focal tonic, absent, tonic, febrile)
-cortical visual impairment and optic atrophy, resulting in legal blindness
-cerebellar hypoplasia (the thinning of the cerebellum)
-hypotonia (loose muscles)
-global developmental delay (motor development of a 6 month old)
-failure to thrive, resulting in a feeding tube
-gastric motility issue (gastric line does not properly process)
-nonverbal
-juvenile scoliosis
-hip dysplasia
-dystonia (involuntary muscle movements)
-constipation
-reflux
-hormonal imbalance
Despite all her struggles Peyton her personality still shines through. She enjoys a constantly growing playlist of nursery rhymes, Disney songs, and pop music which she ‘sings’ along with. She loves to smile, especially when hearing Disney fireworks or Pop-pop’s voice. Peyton’s got a mean right hook and side eye; if she doesn’t agree with you she’ll be sure to get her point across. She receives home bound instruction to avoid exposure to illnesses at school. We continue to learn about her and her diseases every day.
We have partnered with Help Hope Live to help fundraise for a new bathroom that Peyton can easily get in and out of. At this time her wheelchair does not fit through the bathroom door, and she needs to be lifted to transfer into a tub. A new bathroom would include a wider doorway, a roll in shower, water resistant flooring throughout the bathroom and into her bedroom, and a shower wheelchair. We have chosen to fundraise through Help Hope Live in part because Help Hope Live assures fiscal accountability of funds raised and tax deductibility for contributors. Contributors can be sure donations will be used to pay or reimburse medical and related expenses. Any extra funds raised are saved and remain in this fund for the duration of her life for any future medical needs that Peyton may have. Thank you for your support!
