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Johnathan's story

 

 Johnathan was only 2 weeks old the first time he got an unexplained viral infection/rash. These remained a monthly event. He also kept getting fevers and he slept a lot more than his siblings, never seeming to grow out of that newborn need to sleep a Lot! He would "space out" and just stare a off and on throughout the day (what we now know were seizures). He vomitted nightly and had digestive issues from birth as well. For 4 years we tested him for anything and everything, his labs often came back crazy and cancer was brought up by more than one physician. Multiple tests, hospitals and physicians but still no answers. Finally a genetic test was done for periodic fever syndrome. This came back negative but with a recommendation to seriously look into a mitochondrial/metabolic direction. With this info and a move here to AZ we started talking to doctors about the strong possibility of Mito. Jan 1st. 2016 he came down with strep throat this resulted in a 5 day hospital stay. Since then his body has deteriorated rapidly. He now sees 8 different specialists, has had numerous hospital stays, takes several medications, depends on a wheelchair or walker, is fed via a Jtube and will be going on bipap to sleep. He suffers from dysautonomia, muscle myopathy, epilepsy, speech delay, migraines, vertigo, hypermobility syndrome, dysmotility, and neuropathy. Yet if you look at him you'd likely think he's a normal happy 5 yr old. He smiles through everything and is a total cuddle bug. He has a huge heart and is a truly amazing kid. Thanks to a muscle biopsy we know that he has a Mito depletion Syndrome and he only has 32% of the mitochondria that he should. We are waiting on the results of further genetic testing to narrow down exactly which type of depletion.