This post is for all the science nerds out there. So back in 2002 (that's five mid term elections and sixteen Super Bowls ago) the kid started showing symptoms like tremors, seizures, developmental delay, etc and lost her ability to walk independently. Lots of doc visits, multiple brain MRI’s, a spinal tap, and all sorts of other lab work yielded nothing except a lot of head scratching from the medical folks who were trying to figure out what in the heck was going on with our kiddo. Finally after undergoing a muscle biopsy in Atlanta in late 2005 she was diagnosed with a mitochondrial disease. According to our friends at Wikipedia.....
Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the ATP that powers most cell functions.
So since then we have gone with that as a generic diagnosis because the root cause of the mitochondrial dysfunction has always been a mystery. In 2016 our neurologist in Denver suggested we try DNA exome sequencing to see if any new genes had been discovered that might match something in Kinley's DNA. We did the lab work at the hospital and they sent it to UCLA where apparently they can do more than produce NCAA basketball and football talent. Who knew they could also exome sequence the heck out of some DNA? The first results came back with nothing remarkable and we were a little bummed but hey we've been living with plain old "mito" as a diagnosis for 13 years so we just marched forward like we always do. We saw a new metabolic doc in Denver this summer and something clicked with him when he examined Kinley and poured over her files. He asked the lab at UCLA to run their sequencing again and this time there was a hit. Evidently she inherited a copy of gene HTRA2 from Dad with a mutation that disrupts normal protein function. By itself that wouldn't cause any issues however it turns out Mom was also a carrier of HTRA2 with a slight mutation and together these two "flawed" copies of HTRA2 that were passed on to Kinley are what caused her mitochondrial dysfunction. I don't know what the odds are that two carriers of something like this would find each other in Wichita KS, fall in love, get married, and be blessed with this beautiful child but we've got to be in Powerball territory I would think.
This is a newly discovered gene mutation and there aren't any patients as old or older than Kinley that we can look to and try to see what a prognosis might be for her. However we at least now have a more specific diagnosis and should there be therapies developed in the future we will be notified and given an opportunity to explore those. That possibility gives us one thing every parent of a special needs child can use each and every day. HOPE!
