Saturday, May 25, 2013

My Story

Over the last 3 years I have written about my journey through my illness on this blog.  However, I have never written the entire story about my my health problems, diagnosis, testing, etc. all in one place.  If someone wanted to know they'd have to take bits and pieces from multiple different blog posts and put them all together.  Since I have had many people ask me and/or I've had plenty of situations come up in which it would be nice to have, I thought it would be a good idea to write the cliff's notes of my journey (or at least the medical aspect of it) all in one place.

So, without further ado, here's my story...

The "Before" Picture
Kansas City Half Marathon - 2008
The Start of it All -

In July/Aug. of '09 I started to develop headaches. They quickly became daily headaches that continued to get worse.  That was the first thing that prompted me to see a doctor... or numerous doctors.  In Dec. '09, I actually stopped working to find the cause of my headaches.  At that time I thought it was temporary until I found the cause of my headaches and got them taken care of.  However, within a couple weeks I started developing symptoms of POTS (Postural Orthostatic Tachycardia Syndrome): tachycardia (extremely elevated heart rate), fainting, shortness of breath, dizziness, exercise/activity intolerance, etc.  I ran a half marathon in October and couldn't walk up a flight of stairs without getting short of breath by December.

Getting a Diagnosis -

I saw numerous doctors here in town who could not figure out what was going on.  I had test after test after test.  I even had a 24 hour stay in the hospital because my cardiologist wanted to get things done faster since I was getting worse, not better.  My cardiologist diagnosed me with POTS but he truly believed something else was going on.  He helped me get into the Mayo clinic in March of 2010.  The autonomic specialist at Mayo diagnosed me with POTS.  The main symptom I had at that time that couldn't be explained by POTS was my muscle pain.  She just blew that off.

They sent me home with a regimen of slowly increasing exercise that would "cure" my POTS.  However, exercise did nothing but make me feel worse.  I would be practically unable to move for 2 days after 5 minutes of exercise.  I called the doc at Mayo a couple of months after I was there and again 2 months after that.  I was trying to explain to her that the exercise only made me worse, not better and my muscle pain was getting worse.  When I was there in March '10, she, and the cardiologist I saw at Mayo, both said that if the treatment plan they gave me did not work to call them and they would get me back in to see them again.  However, when I called the autonomic specialist just said that the pain was probably just fibromyalgia and if I came back she would just send me to an internist who specializes in fibromyalgia.  I even brought up mitochondrial disease to her and she said that since my emg was normal there was no way I had mito. (An EMG means nothing when testing for Mitochondrial Disease.)  Well, needless to say, I have not spoken to or seen anyone at Mayo again.

I had brought up mitochondrial disease to the doctor from Mayo because I had done a little bit of research on the topic.  I knew in my heart, and because of my intuition, that POTS was not the explanation for all of my symptoms.  I started researching diseases that have dysautonomia as a symptom instead of the primary disease.   Everywhere I looked, mito seemed to be the answer. I ended up talking to someone from a message board for dysautonomia who was diagnosed with mito after he was diagnosed with POTS.  His symptoms and experience were very similar to mine.
And "After"

The man I talked to was very helpful and gave me a lot of information.  He saved me a lot of time in research.  He gave me the name of a doctor in Atlanta who specializes in mito.  He also discussed with me the difference between frozen and fresh muscle biopsies.  Armed with all of this information, I saw a neurologist at the local university medical center.  I got his name from the MDA website (  That site is supposed to give you the name of a doctor who is familiar with all of the diseases on the mda spectrum.  However, I learned that the doctor I saw based on the information on the mda website was not very familiar with mito at all, even though it's one of the diseases covered by mda and mda clinics. The purpose of my visit was to get an order for a muscle biopsy.  He actually suggested it before I did so I was glad.  He suggested a doctor in Texas but I wanted to see Dr. Shoffner based on the recommendation I talked about above.

It took a few months to get in with Dr. Shoffner.  I had seen the mda doc in Aug. 2010 and I got in with Dr. Shoffner in Dec. '10.  At that time I had a fresh muscle biopsy, an exercise test, and a bunch of lab work.  I returned in March '11 for the results.  That is when he informed me that I had mitochondrial disease.  The testing showed a defect in Complex I and Complex III.   You can see all 40+ types of mito here... Types of Mitochondrial Disease  So you don't have to fit into one of the acronyms to have mito.  That's the interesting thing about it.  Everyone with mito is different.... different symptoms, different test results, different age of onset, etc. etc.  

After my appointment with Dr. Shoffner in March '11, he planned on doing genetic testing to find out what gene defect was causing my mito.  That search is still kind of ongoing and here's why...  I finally received the results of that test last December about a week before my appt. with my local geneticist.  That was lucky because he was able to discuss the results with me so I didn't have to return to Atlanta to Dr. Shoffner's office to discuss them.  The genetic defect is in my mitochondrial dna and it usually causes LHON (it's in the list of mito diseases).  However, I don't have any of the primary symptoms of LHON.  I have since been to another mito specialist and she thinks that the defect that was found is not the primary cause of my mito.  It is possible, per the geneticist here in town (not a mito specialist), that I just have different symptoms than most patients with LHON.

Progression and Moving Forward -

Mitochondrial Disease is a progressive condition.  I was told by Dr. Shoffner, the mito specialist, that I would continue to progress until I, eventually, hit a plateau.  I will then stay at that plateau inevitably.  If that is true, I have yet to find my plateau.  I have continued to progress since my diagnosis.  It has not been a rapid progression, thankfully.  Of course, that can be based, somewhat, on opinion.  I have met the mother of a woman who was diagnosed at age 19 and passed away less than a year ago at 24.  She had slow progression, like myself, until the last year or so of her life.  All I can do is hope that that won't happen to me.

In August 2011, I got my electric wheelchair and was finally able to go shopping or do other things that required standing or walking further than a few feet.  By that time I had already been using a chair in the shower as I was unable to stand long enough to shower.

In September 2011, I started developing a new problem/symptom: GI dysmotility. My gastrointestinal system was starting to slow down... quickly.  Ha!  It was slowing down quickly.  I'm so funny.  Okay, moving on from my not so funny joke...  I started seeing a GI specialist and getting tests done.  I had multiple tests to check the rate of my digestion in my stomach and my intestines, an endoscopy, colonoscopy, and a couple of tests to check the muscle strength of my GI system.  One of the tests I had done was called a Sitz marker test. It showed that it can take up to 19 days or more for me to digest something.  You can read more about my GI tests and problems here and here.

In January 2012, I saw Dr. Fran Kendall, a mito specialist, for a second opinion on my diagnosis and because I wanted a different mito specialist to follow up with other than Dr. Shoffner (I won't get into the reasons why.  If you want to know, email me.)  She agreed with the diagnosis. Shocker!  She also recommended that I start receiving IV fluids a couple of times a week to help keep me hydrated.  Patients with dysautonomia and/or mito need to stay very well hydrated.  Because of my GI problems, I wasn't.  So, when I returned to Kansas City, I had a port a cath placed in my right chest.  I have been receiving IV fluids ever since.

My GI problems have continued to get worse.  In August 2012, I overdid it while planning the Energy for Life walk and hosting another fundraiser.  I wound up in a mito crash (want to know what a mito crash is? - read about it here) that put me in the hospital for 3-4 days.  One good thing came out of that hospital visit.  I am now taking one liter of IV fluids a day due to my GI problems.  I am having constant problems with nausea, vomiting, and chronic constipation. About every other week I go 3-5 days without eating much solid foods.  Right now I am just trying to hold off on getting a g/j tube (feeding tube). GJ tube info

I have been seeing a pain specialist for a couple of years now.  He has kept me on pain medication and medication to stop my muscle spasms and twitching.  But, because I'm going to be in pain for the rest of my life, and because the pain medication has a negative effect on my GI system which is already struggling to work, I am in the process of getting an intrathecal pain pump. Information about the pain pump

So, I use an electric wheelchair to get around.  I have a port a cath and receive IV fluids daily.  I take multiple medications every day.  Soon I will be getting a pain pump and eventually, when my GI problems progress enough, I will need a G/J tube.  I'm going to have a little difficulty going through the metal detectors when I travel.  Hopefully they won't think I'm hiding a bomb inside my abdomen (pain pump) or chest (port a cath).  If you want to know each and every one of my symptoms, I listed them in this blog post - here.

This is my life now.... take it or leave it. (Don't tempt me.. because there are definitely days in which I'd leave it.)


So, that's my story.  The condensed version.  I was healthy my entire life until I started developing constant headaches in July/Aug. 2009 at age 30.  The main symptom that did not fit with pots alone is pain; all over muscle pain that got worse with activity.  My pain was also getting worse as time went by.  That was the main thing, along with the fact that exercise made me more sick instead of helping like they said it would, that made ME (not any of my doctors) look at mitochondrial disease.  The biggest thing that helped me?  I followed my instinct!  I left Mayo with a diagnosis of POTS.  My mom and step-mom went with me and were both happy with the diagnosis, treatment plan, and prognosis.  I, however, left there feeling like it was a waste of time.  I KNEW something else was wrong and that was before I started researching mito.

So, mito can start at any age.  I have talked to a lot of adults who have adult onset mito who now have an explanation for all the things that happened to them earlier in life.  I'm not one of those people.  I, on the other hand, grew up without a single health problem (aside from broken bones from my active/daredevil lifestyle) until a ton of health problems hit me like a ton of bricks at 30 years old.

If you have any questions, feel free to ask.  I may have trouble returning emails in a timely manner, but I always return them... eventually.  I'm happy to help in any way I can.

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