Getting The Hang of This

Today marks four weeks since I received the big news about my genetic mutation. I met with my wonderful primary care doctor (who is sadly retiring) last week. He thought it was so amazing that I could have both a protein mutation and an enzyme mutation. I don't make COQ10 on my own and I can't process any long-chain fatty acid foods.

Lucky for me I can take COQ10 as a supplement and change my diet. These four weeks have gone by very quickly. It has been "All hands on deck" for my mom, my husband and myself. We are learning as much as we can about all foods. It's very hard to find pre-made food that fit the bill. Eating whole foods while out, or making it ourselves is the best way to go.

From pasta sauce to crackers, long-chain fatty acids are everywhere. I'm very fortunate to have extra eyes reading labels for me. I thought I had found a good oat milk for my coffee, but it turns out I was wrong. Then my mom found this.

Just oats, no oils.

I'm so happy this happened during summer while I have gobs of fresh fruit and vegetables at my fingertips. This has been my "go to" for lunch lately. So scrumptious! Fresh bread that my husband makes for me, local goat cheese with fresh pepper, roasted chicken breast, delicious juicy tomatoes topped with lavender sea salt. I feel very advantaged to have access to this food.

Those sweet and spicy pickles are addictive.

I feel like I'm really getting the hang of eating this way. I don't feel like I'm missing out at all.

My walking is going very well. I still feel a bit gangly and not quite like I used to when I walk. But it hasn't been very long. I know those muscles will take time to go back to the way they used to be. I'm having patience with myself (something being disabled has taught me.)

Eating out takes a little tweaking. Mexican is pretty safe as long as the beans have no lard. I haven't had any problems so far. I also do a lot of research before hand when we eat out, so I know just what I'm ordering. 

My mom took this picture of me the other day and it perfectly captures how I'm feeling. Like I've been re-born. Given another chance at a strong healthy life. I crave physical activity now and I want to keep it that way.

Possible Answers

Yesterday my doctor let me know that my latest genetic testing came back with something. She said I have a mutation on my HADHA gene, but that I'm just a carrier. She thinks that I'm a "symptomatic carrier" (who knew there was such a thing!?)

The treatment for this disorder is to not eat anything that's a "long chain fatty acid" as my body possibly can't process it. And don't fast.

(Click to see images bigger)

I felt very happy to possibly have some answers. We knew it was a Mitochondrial disorder, but not particularly which one other than the COQ10 processing gene being mutated. She said "This is the first test to come back with a definitive mitochondrial link." A missing piece of the puzzle being clicked into place.

So with that news and my wanting to lose weight anyway my eating is about to undergo a huge change.

I did a lot of research and this is what I found out. I really wish there was a "Short chain fatty acid cookbook." Sadly people don't eat like that. Basically a Vegan diet without soy is the best. Super lean meat seems ok. Not for all the time but occasionally.

I used to be Vegan years ago. I remember being hungry a lot and missing burgers. Ha ha. But ethically it felt really good.

There are a lot of gourmet beans on the market. I can splurge on those. Same with rice. So many kinds to chose from. Summer is the perfect time for lovely fruits and veg. I'm lucking I didn't find this out in the dead of winter.

My hope is that I can halt my disease or even reverse some of it. I barely dare to let myself dream of a healthy normal life full of nature hikes and sex. In no particular order.

(Thanks Mom for the wonderful collage!)

When did Myopathy start?

I've always placed the start date of my muscle weakness April 26th 2018, 13 days after starting Plaquenil. My husband has felt that it was the Plaquenil that caused my Myopathy. But I had a memory the other day that places the real start date MUCH earlier than that. 

I remembered being at Disneyland in November of 2017 and feeling like I was being especially tossed around. I even told my husband that I felt "weird," like my muscles weren't holding my body in place like they should be. Upon looking back I'm wondering if that was my first sign of myopathy.

Not having a very specific diagnosis is frustrating, not having a clear cause is also frustrating, but now not even really being clear when it could have started? Yes. That's hard.

Is it just a genetic mutation that somehow got turned on? Was it the affects from my brain tumor that I'd had since at least 2015? Was it from the Latent Tuberculosis or the medication used to treat it in 2016? Is it from the Plaquenil I was put on in 2018? I may never know. 

Having a chronic illness often means endless doctors appointments, new symptoms that sprout up literally overnight and having more unanswered questions than answers. I'm slowly learning how to live in this zone of "unknown".

I may not know exactly when my muscles started breaking down, but I do know how it rules my life today. I know I can't dwell on what I used to be able to do yesterday that maybe I can't do today. And I can't focus on what I may not be able to do tomorrow. I live each day as best I can and feel grateful that I'm not in this alone.