I have a Mitochondrial Disease.
No, there is nothing wrong with my heart….that would be a condition including the word Myocardial. And honestly is the second most common response I hear when I tell people my diagnosis. Usually, however, peoples immediate response is “what the heck is that?”. Well, I am about to tell you……
I’m sure we all remember learning that the Mitochondria is the powerhouse of the cell, responsible for creating roughly 90% of the bodies energy. Ya know, the energy we all need to maintain organ function and sustain life. When the mitochondria fail, less and less energy is made for the cell, resulting in cell injury and cell death. If this continues over a long period of time, the process repeating throughout the body, whole organ systems begin to fail. In my case, my digestive system is the organ system that has been impacted most by my condition. I spent roughly 18 years dealing with chronic gastrointestinal issues, issues that continually worsened and became more difficult to diagnose. Countless doctors were perplexed by my symptoms and my bodies lack of response to treatment. The result of so many years without the proper diagnosis, was me developing numerous serious stomach conditions, including, SMA Syndrome. Which honestly, was the diagnosis that led us on the right path of finally nailing down the proper diagnosis of Mito Disease. So yes, the surgeries and hospital stay were necessary, it needed to be corrected, and it led to me being put in front of all the right doctors. Moving on ha…….
Mitochondrial diseases are rare, poorly understood, and difficult to diagnose. The day I received my diagnosis I was determined to find all of the information I could…..that took me a grand total of 60 minutes. There is next to no information on how this condition impacts adults, what the long term outcomes may be for diet and medications, whether it will worsen with time, whether symptoms can be reversed. All of the questions I need answers to, and no one has them. It wasn’t until I was referred to my amazing Dietician/Nutritionist, that I was finally able to start understanding exactly what was happening in my body. She calmly and patiently explained to me that I have one of the rarest forms of glycogen storage deficiency. What does that mean? It means that the body takes glucose from food and turns it into glycogen to be stored and later used by muscles throughout the body. The body has proteins that are then responsible for taking the glycogen and turning it back into glucose to be used for energy. My body lacks those proteins. So I can store all kinds of energy for my muscles, but I cannot access it. Good news, drastic diet changes could help me combat this. So I jumped on board…..until this woman said I would have to give up all complex carbs, bread and pasta are LIFE!!!! I legit used to joke that if the day every came that they took bread and pasta away from me, “give me a feeding tube….I’m done chewing”. Well, as it turns out feeding tubes are wildly unpleasant, and I never want one ever again. Sooo, I agreed to give it a try. I agreed to basically become a caveman, protein/fruit/veg/water, to give up the things that I loved the most in life (in terms of food ha, yes I realize how dramatic I sound, but my love for carbs RUNS DEEP). I honestly went into expecting very little, but within a week I noticed a difference. My digestive system was much less angry, I threw up less, my nausea reduced somewhat, my pain still hangs on like a champ, but the first two were major wins. So I decided to go hard, fully commit to this new diet, set alarms for meals 6 times a day and meds 4 times a day. I carry around a pill combler that hold my 14 pills a day, I cook, I meal prep, I follow the plan to the letter. And three weeks into this full throttle commitment I notice a huge difference. My muscles cramp less, my gut is happier, I am happier, weight is just melting off of me. Symptom relief makes it so much easier for me to continue this lifestyle change.
Does this mean I am cured? 100000000% NO! What this means is that I have found a way to help my body make and maintain energy. It’s a lot of work, I’m not going to lie. And it is work I will be doing for the rest of my life. The meds and the diet are forever, I will forever be trying to help my body make energy to sustain my life. It’s daunting, it’s terrifying, it’s infuriating, it’s sad, it’s hard. I choose to deal with it quietly, I choose to not complain on my bad days and not draw attention to what I am doing all day every day just to maintain my “normal” life. I’m only writing because I field questions every single day, and that conversation is getting really old ha. Also, so people can start thinking before they speak or act around me. Yes, I have lost weight, but don’t call me a “skinny bitch” or tell me your jealous or i have it easy because I HAVE to eat clean. Saying any of those three things is rude, ignorant, and incredibly infuriating. I probably thing about food more than the biggest food addicts on the planet. I don’t choose any of this, but I choose to help my body in whatever ways I can. And for me that means serious commitment to following my diet plan, exercising as my body allows, and listening to my body when it tells me to rest. It comes off as selfish or self serving, and perhaps it is, but its what my body needs to keep me alive…..so you can get on board, or kindly go jump in the lake. Your choice…..now you all know……
Chronically Sarcastic 