Mito

Recently I have started to blog as a way for me to work through things and to maybe help others feel they are not alone in the struggles of chronic health conditions and chronic pain. While I don’t get traffic really, it does help somewhat to put my thoughts down and out there.
If you are interested, it’s resilienceandwhatnot.com, between the blog, being creative with crafting and reading- I feel I’m starting to have some kind of outlet.
While these methods don’t work everyday, at least it does help some days.
What do you do for an outlet?
#ChronicIlless #RareDisease #ChronicPain #Anxiety #ChronicDepression #Mito #Outlet #Blog #crafts #Reading

A while ago I posted about research testing and how it has helped us find out my Mitochondrial Disease is likely linked to a defective NFS1 gene. Well I got a call today from my absolute favorite person in the research department. She has been with me since the beginning of my journey. She informed me that because of the testing they did on me they are beginning to find other people throughout the country that may have the same (extremely rare) type of Mitochondrial disease as me. AND they are trying to get approved to write an article about us. Hopefully this will eventually lead to a real diagnosis, since many doctors and people dismiss research diagnosis’s until they a properly approved. Maybe even years down the road we could find better treatment.

I just had to share this with everyone, it was a really proud moment for me. My persistence has paid off, I am helping others get the answers they deserve simply by not giving up until I got my answer. If and when this article does get published I will make sure to post a link, it may take a few months though, as we all know...anything medical takes forever 😂.

#MitochondrialDisease #NFS1gene #Mito #MedicalResearch #RareDiseases #ChronicIllness #CheerMeOn #InvisibleIllness #LacticAcidosis

I have had people comment on my posts accusing me of not having my illness or repeatedly asking me questions such as “Have you seen ____ Doctor? They are the type to diagnose that”. I have had people blame me for my problems when I just want to know I’m not alone. I’ve had people tell me “such and such will cure you”...all of this ON HERE.

What happened to banning together and supporting one another? Is that not what this website is for? I loved The Mighty when I first joined, but I’ve come to realize that many people on here are just as harmful and not understanding as people who don’t suffer from chronic illnesses.

We need to stand together, raise each other up, comfort each other. Not push one another down because someone’s experience isn’t the same as your own.

#Mito #MitochondrialDisease #ChronicIllness #InvisibleIllness #RareDisease #Spoonie #SpoonieProblems #CheckInWithMe

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

#RareAndMighty

Today is world rare disease day! I have an unknown mitochondrial disease.
This has robbed me of use of my muscles to sit unaided, damaged my spinal cord causing paralysis, weakened my diaphragm to a point of being ventilator dependant with a tracheostomy, left me with a feeding tube and catheter and caused issues with my eyesight. I have several comorbidities of mitochondrial disease, including a rare copper deficiency resulting in me needing regular IV copper infusions, I'm anaemic needing regular iron and weakened my immune system so I need regular IV antibiotics. Because of this I've also had to get a Hickman central line in my chest to provide IV access.
I've had my body taken away from me, bruised, scarred, covered with tubes and unable to perform simple bodily functions without tubes and medical devices. I suffer intractable pain daily meaning I also now have an intrathecal pain pump to release painkillers into my spinal fluid in order to improve my quality of life.

What is ?
Mitochondrial disease is a genetic condition whereby the mitochondria in the cells essentially start to fail or you dont have enough of them to provide sufficient energy for organ function. Mitochondrial disease is progressive and in my case life limiting. You have mitochondria in every cell of your body except red blood cells. When the mitochondria fail, organs start to fail because there's not enough energy to power them and daily we suffer from fatigue due to our cells literally being drained of energy.
There's no actual treatment for , symptom control using a specific 'Mito cocktail' to provide added supplemental support to the cells and help boost mitochondrial function, but cannot stop the damage from happening, just hopefully make it happen slower.
KILLS more children than all childhood cancers combined.
Why is it so unknown!? I have had doctors tell me I know more about my condition than they do. It is wrong! This illness has left me fighting for my life multiple times and daily I have this fight with my body.