Lexi has an unknown, rare form of mitochondrial disease. Mitochondrial disease results from failures in the mitochondria of cells, which are responsible for creating energy needed by the body to sustain life and support organ function. The disease impacts multi-organ systems, leading to chronic ailments. Mitochondrial disease can be fatal. Lexi’s disease affects many of her organs including her brain, heart, liver, digestive system and kidneys. The doctors have yet to find exactly which strain of the disease she has. Everyone reacts different to the disease but in Lexi’s case it affects her daily.
The Most recent update on the results from Lexi’s muscle biopsy at the Children’s Hospital of Philadelphia (CHOP) in February. Lexi has been diagnosed with combined oxidative phosphorylation disorder that’s affecting multiple mitochondrial complexes. This disorder is rarer than 1 in one million. We have been given some answers but they are unfortunately not the answers we had all hoped for. According to statistics, life expectancy is childhood. Lexi’s family were previously told teenage years and this new information is devastating. Lexi’s team at CHOP is currently working on finding the cause of her specific genetic disorder in order to get on the national database for clinical trials. In hopes to be proactive they are starting her on a new cocktail of medications to possibly boost mitochondrial function and slow down the damage being done to her liver, heart and brain. She will most likely need a liver transplant at some point. In light of these recent findings, the National Institute of Health (NIH) has canceled Lexi’s admission scheduled for this week as they now feel they cannot help more than what the team at CHOP is already doing. This is also upsetting because we had hoped for the possibility of more positive answers.