Mitochondrial Disease Awareness Month

May 6th 2017. I was 18. It was a Saturday, I had been working part time at Ohio Caverns and was planing on working full time once I graduated high school. However, I had been feeling off that day, and since I was the newest employee I didn’t dare tell anyone because I didn’t want to come across as lazy. Fast forward to me getting home that evening. (We will keep the gross details to a minimum) I threw up dark green stomach acid. We didn’t think much of it until it happened again the next Saturday after work....

So we went to see my primary care doctor, he ordered blood work (I had been extremely healthy growing up so this was the first time I had ever had my blood drawn). My blood work came back showing abnormal liver enzymes. So we were sent to a gastroenterologist in a slightly larger town. He did a COUNTLESS number of tests, from blood work regularly, to a hydascan, to an endoscope, to a liver biopsy.

The biopsy came back “bland” which means fine...

Now I won’t go into all the other doctors I’ve seen because that would take waaay too long, but of the ones that I remember (and this doesn’t include ones I’ve seen while in the hospital) I have seen approximately 12 different specialists. And all but one have gave up on me.

I eventually went to a primary care doctor at OSU, or should I say resident. This magical doctor became my “Dr House”. He is the reason we are where we are today. So I went to him a few times and he had been trying so hard to figure out what was going on. Then it occurred to him to check my Lactic Acid levels and my CK levels. Both were off the charts, to the point where he called and said I needed to come be admitted to the hospital. Of course I was terrified and confused, I had seen him hours earlier and I was no different than normal. After being in the hospital for 24 hours my doctors collectively decided that I might have a mitochondrial disease and that I was to see a genetic specialist at nationwide children’s hospital.

So we go see this specialist and he immediately says “nope there’s no way you have this disease, it typically only shows in infants and you look fine. But I will do the same test to appease you” so he does...and it comes back twice as high as it was the last time. So we go see him again and he apologized for doubting it and started some genetic testing. When all of that continuously came back normal we began to lose our hope. It had been almost two years and I didn’t have an answer.

So we did a muscle biopsy. And it came back with signs of a mitochondrial disease, we just didn’t know WHAT mitochondrial disease.

Unfortunately that’s where we are at. I’ve been waiting to hear back from research testing. They are looking into the NFS1 gene. Which could be why my lactic acid levels are so high. If they find what they are looking for I will only be the 2nd person in the country with this genetic change.

I’ll be 21 soon, and I plan on kicking mitos butt for years to come! #MitochondrialDisease #RareDisease #Mito #ChronicIllness #CheerMeOn #CheckInWithMe #InvisibleIllness