Thea

Meet Thea. Thea is three years old. Starting at about eighteen months, Thea seemed different than most children. She was less active and wasn’t reaching normal milestones. She had frequent periods of lethargy and episodes where she temporarily wouldn’t be able to walk or talk. She would drool and loose muscle control and then she would recover. The doctors were mystified by this behavior. They performed many tests but couldn’t figure out what was wrong. Eventually, on New Year’s Eve of 2017, she ended up in the hospital so lethargic that she wouldn’t wake up from her sleep. Even after the doctors were able to revive her, she lay in the hospital bed for many days awake but not responsive to anyone and had life threatening irregular heart symptoms. After days of inconclusive diagnostic tests, doctors recommended full genome sequencing and she was finally diagnosed with tango 2 disease, a disease that impacts the body’s ability to generate and transfer energy at the cellular level, with similar symptoms to mitochondrial diseases. We were told Thea suffered a metabolic crisis, where her energy levels were so low that her body started to shut down major organs such as the brain and heart. This can happen to children with tango 2 disease when their bodies become overstressed. In this case, she had caught the flu. Although we were devastated by the diagnosis, it was also a relief to finally have these mysterious episodes explained after a year of not understanding how to help our little girl. The doctors started giving Thea a “mito cocktail” which consists of energy supplements to help support her mitochondria’s health. After taking these supplements, we were relieved to notice an improvement. She started eating and playing. After a couple of weeks, she started walking for the first time and was able to put more words together. She also seemed happier and more awake and aware than before. Now she loves to swim and take gymnastics classes. She cooks in her play kitchen and brings so much joy to our home with her dance moves and chasing games. We are still in awe that she went from only being able to crawl at age two to running around the house at three and half. Her body still has a hard time keeping up when she is sick, and we’ve ended up back in the hospital after an illness. Her speech and development are delayed about a year. The prognosis on the one research paper available published in 2016, is poor. As much as that frightens us, we are hopeful that further research can develop treatments or cures in time for our daughter and others like her.