I was diagnosed with Parkinson's Disease and Peripheral Neuropathy in 2006, but my symptoms seemed to take a turn in a different direction in late 2007, and the diagnosis was changed to Essential Myoclonus. Then in 2010 I was diagnosed with Type II Diabetes. Finally, after a muscle biopsy, it was determined that I have Mitochondrial Myopathy.

Share my journey - coping with the testing, the medicines, nutrition, digestion problems, exercise, the emotions, uncertain diagnoses and no telling what else!

"But they that wait upon the LORD shall renew their strength; they shall mount up with wings as eagles; they shall run, and not be weary; and they shall walk, and not faint." Isaiah 40:31 KJV

Saturday, November 12, 2011

Test Results??

The Neuromuscular Specialist called the other day - 2 days after I had called his office and left a message asking for an update on the test results. He was rattling off a lot of medical terms I wasn't familiar with, and his thick accent didn't help in understanding what he was telling us. But from what I could understand he thinks I have Mitochondrial Myopathy, which is a genetic disorder involving DNA mutations. I questioned him about that, as it would seem logical to a lay person that if it were genetic I would have had symptoms my whole life. He said symptoms often didn't show up until a person's 50's or 60's, and my first movement disorder symptoms did show up in my late 50's. And I was what people used to call a sickly child.

From what I've read it's actually called Adult Onset Mitochondrial Myopathy. I did find a very good information source online at the UMDF, United Mitochondrial Disease Foundation . Once I joined with a free membership I was able to read quite a few helpful articles.

There's a long list of possible symptoms associated with MITO, as it's abbreviated, depending on which organs are affected by the gene mutations. But I do recognize myself in the list. Even the Type II Diabetes is on the list, as well as the Myoclonus.

He is scheduling me for a muscle biopsy for a more conclusive diagnosis, although even then it won't be definitive. But I'll feel better knowing we'd tried everything we can to pin down the diagnosis and what type of MITO I might have. I handle the Devil I Know much better than an unknown enemy. There's just something about being able to read about the disease that helps me deal with it - even if there is no real treatment for it.

There are some articles I've read that suggested there are some vitamins and supplements that may help to delay the progression of the mutations, but these articles caution not to take them without medical supervision, as some can actually make variations of MITO worse, rather than delay progression.

So it's still a waiting game, as I continue to be very weak and find walking to be difficult and slow and holding up my head very tiring and painful.


6 comments:

Anji said...

I'm sorry that you've had such news. I hope that there are positive things that you can do to help.

Hugs

Dirty Butter said...

Thanks, Anji. You're a good friend. I appreciate your prayers.

Don said...

Hello DB, Sorry I have been away from reading your blog of late, as I have been from most, but I am back at it. (Work and health getting in the way!)

Glad to hear you may have an answer, even if the answer isn't a good answer. But as you say, knowing helps!

Know you continue to be in my prayers!

Don
http://exposeyoublog.com

Dirty Butter said...

No need to apologize, Don, and sorry to hear your health is still an issue for you. I really do appreciate your prayers!!!

Anji said...

I'm not sure how to contact you so I'm leaving a message here.

Hope everything is going as well as it can be for you. I miss your company in the chat box and I hope that your absence is because you are busy.

I'm thinking of you - Take care.

Dirty Butter said...

Hi Anji! I miss chatting with you, too. I'm still very weak and WAAAY behind on everything. I do hope to get back to chatting, but at the rate I'm going it won't be anytime soon. Take Care!!