There are only 11 people in the world diagnosed with Mitochondrial Complex 1 Deficiency. Katherine Faughn, a 7-year-old living in Kentucky is one of these 11. The disease wasn’t even discovered until 2010. It’s caused by a mutation to the NUBPL gene and results in the death of brain cells. While its prognosis is still unclear, it’s progressive and causes brain lesions and developmental delay among other issues. Katherine can now only walk 10 steps before falling.
Katherine was diagnosed in 2015 after living with an incorrect diagnosis for three of her four years of life. She was originally diagnosed with infantile neuroaxonal dystrophy and told she would die from the condition before she turned 10 years old.
Her parents Dave Faughn and Glenda McCoy were pivotal in helping her receive the right diagnosis. But they’re not stopping there. They don’t just want answers, they want a cure. This family is determined to do whatever it takes to get their daughter treatment. Unfortunately, there are no treatments currently available for the condition, there is no cure, and not many people want to conduct research because it’s so expensive.
So what do you do?
Dave and Glenda co-founded the NUBPL foundation to raise money for research. They also hope to raise awareness for mitochondrial conditions as a whole and build community among those living with them. They are currently working in collaboration with the Children’s Hospital of Philadelphia (CHOP) with hope to find a treatment breakthrough. 179,000 dollars is needed to complete the research and so far the foundation has been able to raise 100,000 toward that goal.
It was a researcher at CHOP, Douglas Wallace, who was the first to discover a mitochondrial gene mutation in humans which was disease-causing. While Mitochondrial Complex 1 Deficiency is extremely rare, there are 80,000 Americans living with some sort of mitochondrial disease. Additionally, defective NUBPL genes have been linked to Parkinson’s disease and colorectal cancer as well as other illnesses. Therefore, the CHOP study could not only benefit those 11 people living with Katherine’s condition, but thousands of individuals worldwide.
Going above and beyond
Katherine’s parents have not only become an advocate for her well-being, they’ve become an advocate for all those living with mitochondrial diseases.
Katherine’s father is a civil litigator. In 2016, he put those skills to use to fight for legislation which would force insurance companies to pay for a treatment called the mito cocktail. Currently, it’s the only medication which slows the effects of mitochondrial diseases. But it was so expensive that some families were forced to choose between paying rent and getting their child the medicine they needed. Through lobbying and co-authoring of new legislation, Dave was able to get the Kentucky General Assembly to mandate coverage. It is now the only state which requires coverage for mito cocktail, and it’s changing the lives of patients living in the state.
“David’s efforts ignite hope in NUBPL families around the world.”
For these efforts, his creation of the foundation, and his dedication to funding research, Katherine’s father has been nominated for the Eagle Rare Life Award. If he wins, he’ll receive 50,000 dollars for The NUBPL Foundation.
Click here to vote!
You can also donate directly to CHOP’s research here if you so choose.