Ashana is my gorgeous friend’s 1 year old amazing daughter. She was born the picture of perfection, however, at 7 days old she had a certain 'twitch' which turned out to be infantile seizures. After months of tests and anxious waiting, her beautiful family discovered she has 2 extremely rare conditions. One is so rare it hasn’t even got a name. It’s simply known as STXBP1, and the other is Alexander’s Disease. Both of these conditions are limited to just 300 cases worldwide and both have a poor outcome (See below for in depth explanations)
Treatments to improve Ashana’s life and help her to be the best little girl she can be with what she is dealing with are costing her family on average $650 a week!!!! This is aside from costs of living and caring for their 2 older adorable boys.
I am starting this page to try to help with some of their astronomical costs and would greatly appreciate anything you have to help this unassuming, caring, and amazing family xx
STXBP1 is a gene on chromosome 9 which is important for normal brain function. It plays a vital role in the release of chemicals in the brain (neurotransmitters) which the brain cells use to communicate with each other. A disruption or the absence of this gene results in abnormalities in the function of the brain leading to seizures, developmental delay, learning difficulties, behaviour problems, unsteadiness [ataxia], abnormal muscle function [dystonia], tremors and low muscle tone [hypotonia]. There is no cure for this disorder as the effects of the genetic change took place during your baby’s formation and development. Currently Ashana is 1 in 300 worldwide to have this.
Alexander Disease - Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Alexander disease is a progressive and often fatal disease. There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. The prognosis for individuals with Alexander disease is generally poor.