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  • Juanita Simpson

Ashanas Story

Ashana was our beautiful surprise - who keeps on surprising. She is the youngest with two older brothers Chad & Deegan. She was born a perfectly healthy bub, scans were 100% perfect, no complications she was a delight who slept for 20+ hours in total a day. We knew Ashana was a gift, that she was here to teach us something - but we weren't sure what. Ashana aced all her hospital tests, we came home a day early and settled into life as a family of 5. At 7 days old I noticed Ashana had a certain 'twitch' whilst she was peacefully sleeping in her swing, the movements didn't last long but they happened frequently. On the 4th time her eyes rolled back into her head and her arms and legs were shaking.... It was then we realised something was wrong and this wasn't just a shock from being startled in her sleep. That ambulance ride was so hard, leaving behind my husband and 2 boys and not knowing what was happening with our baby, is she ok ? Will she survive? Why is this happening? 100 questions racing through my mind.. We didn't know that babies having a seizure was even possible!


Arriving at hospital Ashana was put into a baby giraffe machine, a team of Doctors, paediatricians, counsellors, ICU people and multi other specialists crowded the room. Soon there was 15+ people surrounding her while i stood back watching our little girl get multiple bloods taken, canulars in any where possible, oxygen on standby - Doctors not knowing why this was going on... Until a little while later she had another seizure and they realised they weren't just infantile spasms. Days felt like eternity whilst Ashana was in the ICU - Children Critical care unit.. That was when we realised we were in for a hell of a ride. Ashana had multiple tests done, multiple lumbar punctures in her spine, tests sent to Melbourne and DNA tests sent to America along with EEGs to monitor seizure activity in her brain. The days led to weeks while we waited to find an answer.


An anxious 3 Months later we finally received an answer that Ashanas American DNA results came back with 2 genetic mutations. One called STXBP1 & the other called Alexander Disease.


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.


Currently Ashana is showing no physical signs of having Alexander Disease and specialists are not sure if this is a ''spelling error'' in her gene or if this is something that will flare up. Thank you for following Ashanas Journey


xx


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