ENERGY IN ACTION – EPISODE 054
Advocate Like a Father
David Faughn shares his story about his daughter Katherine, how his family became part of the mitochondrial disease community and about the advocacy work he’s doing in his home state of Kentucky.
Tell us about your daughter Katherine and her diagnosis journey.
Katherine hit all of the typical milestones for the first six months after she was born. At almost a year old, when we were expecting she’d be walking independently, she hit a plateau. We were no longer seeing a rapid development of her motor skills. Despite assistance through physical therapy and occupational therapy, Katherine still wasn’t able to walk more than a couple steps without falling. At two years old, she was referred to a neurologist for an MRI and we started our journey with an incorrect diagnosis of Infantile Neuroaxonal Dystrophy (INAD), a rare progressive disorder, based on what the doctors gathered from the MRI. We got to know other INAD families, researched a lot of medical literature, connected with experts and quickly became convinced that Katherine didn’t have INAD. Whole-exome sequencing results later revealed that Katherine had a mutation to a recessive nuclear gene called NUBPL.
What was it like to push through what you suspected was an incorrect diagnosis?
That was the first lesson we learned- that as Katherine’s parents we had to fight. Getting a diagnosis is hard, treatments are rarely available, every step of the way there are hurdles to jump for the insurance company. The insurance company didn’t want to cover genetic testing to confirm a diagnosis, which could open up treatment options. The rejection made me angry and I appealed to the insurance company, eventually getting the genetic testing approved.
Can you tell us about your work on Kentucky Revised Statute 304.17A-258?
The bill we got passed requires private insurance to cover mito cocktails. We started with an insurance denial for a mito cocktail for Katherine. I appealed to the insurance company to get the prescription for Katherine, but also started looking into getting the law changed so other families didn’t have to go through what we did. I discovered a law that mandated private insurance covered certain therapeutic food, formulas and supplements for certain metabolic or genetic conditions. Looking at the way the statute was written, I believed it would cover mito cocktails. I decided to attempt to get the statute amended to include mito cocktails and remove the compounding pharmacy restriction.
RESOURCES & LINKS MENTIONED
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