Joshua's Story

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Joshua is an 8 year old boy who was born with torticollis ("wry neck"), but no other obvious medical problems at first. Soon, we noticed he was not overly motivated for feeding and also had GERD. In time, milestones were missed. From a very early age, Joshua was involved with pediatric therapy appointments to try and get him on track. His GI issues and feeding struggles persisted and got worse, and we also noticed a high fatigue level as he became a toddler who should be happily running all over the place. Joshua presented with exercise intolerance in ANY setting- school, yard, park, mall play area, etc. He also started to show other system involvement. We saw many specialists during these early years. Most said he had mild cerebral palsy, or they took a "wait and see" approach. Finally, unable to explain the persistent fatigue factor, and after having ruled out other disease possibilities, we had physicians begin to examine the probability of mitochondrial disease. Joshua has had lots of genetic testing, including from TGen. They found multiple gene mutations which collectively would explain some of his symptoms, (for example, his RYR2 mutation can cause cyclic vomiting, heart and other dysautonomia  concerns), although there is not a unified conclusion on which one gene may be the most responsible. At one time we thought it was IDH3G. Later, TGen took the time to revisit Joshua's case and discovered a different mutation actually may be more likely to be our answer. However, more research is needed. When Joshua required a urology surgery at age 7, we made the difficult decision along with one of his physicians, to have a muscle biopsy done at the same time. This test showed that Joshua has mitochondrial DNA depletion. While Joshua has made some amazing strides over time, he continues to need multiple specialists involved in his care, including one out of state, daily meds throughout the day, including the typical "mito cocktail" supplements, as well as weekly therapies. His GI issues have become more challenging with age rather than improving.  He attends school only 2 hours a day and often has absences for fatigue, pain, slow gut motility, or from common colds that are difficult for him to bounce back from. Joshua loves animals, playing on the computer, and all things Disney. 

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