Kylie's Story

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     Kylie was born September 9, 2003. The first three years of her life consisted of lots of Dr's telling me nothing was wrong and she was just on her own path! As her mom I knew otherwise and kept up the fight of finding a diagnosis. In late 2006 she was diagnosed with Celiac Disease and showed great progress on a gluten free diet. Unfortunately, in Feb 2007 she had her first metabolic crash. She found herself in the hospital for a month with no answers. She lost all function in most of her body. She came home to relearn it all from scratch. Drs told us to enjoy her time with us as we had no answers. The following months I seeked out other moms, dug through support forums and researched Drs, all of which taught me about Mitochondrial Disease.  Upon seeing our 7th neurologist we were given a referral to go see Dr Cohen at the Cleveland Clinic. In early 2008 Kylie was diagnosed with Leigh Like syndrome. She had all the classic symptoms of Leighs but was missing the hallmark lesions on her brain MRI. This diagnosis helped us move forward on our journey of Mito and learning all we could to help our princess Noodlebug. 

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     Over the next few years Kylie worked hard to gain strength and I worked hard on finding ways to help her. We have seen many specialists who have helped with different pieces of the puzzle. Kylie has had multiple genetic tests done and in mid-2012 we were given the shocking news that a gene had been found that explained her symptoms. The FARS2 gene mutation discovered was our disease causing answer. Although this answer gave us no concrete answers for treatment it allowed one major win in our fight. It allowed Kylie acceptance into the EPI trial in late 2012. Kylie is one of very few in the world who is on the EPI drug and we are so blessed for its continuous help in her fight. In November of 2014 Kylie suffered another metabolic crash that resulted in many Drs not feeling like she would ever come home. We spent the month of November including Thanksgiving in the hospital where she put up a valiant fight. It was this MRI that finally showed the lesions we had been waiting for. It was a punch to the gut I will never forget. She loves to beat to her own drum and came home mid-December and continues to prove the world wrong. 

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    Kylie has a gtube, a mitrofanoff,  O2 dependent, wheelchair bound, nuero genic bladder, hip dysplasia, spasticity, hearing loss, brain lesions and more. But most importantly she has a smile that lights up a room, a laugh that is over the top and a love of life that we all should learn from. She is the happiest girl around and all of her boyfriends will agree! 

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