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.

Wednesday, May 15, 2013

Happiness with a Chronic Illness

"The purpose of our lives is to be happy." - Dalai Lama

What is the meaning of life?  That's always the million dollar question. Right?  I have always believed that the meaning of life is to be happy.  After all, what is life if you aren't happy?  All I have ever wanted is to be happy overall.  That doesn't mean that I wouldn't have any stress in my life what-so-ever.  No one can avoid all stress.  That doesn't mean I would be happy 100% of the time, either.  That's not realistic.  However, it is realistic to be happy overall or in general

I was there once.  I really was.  I was genuinely, truly happy.  I loved my job.  I was an emergency room nurse and I loved it.  I enjoyed going to work and if I had too many days off in a row, I was anxious to go back.  My coworkers were like my second family, or so I thought. I had friends.  I didn't have a ton of friends, but that's not what I've ever wanted.  I had a handful of friends who I loved and I believed, at the time, that they loved me back.   I had (and still have) a wonderful husband whom I loved more than I've ever loved anyone, aside from my kids.  And, speaking of my children... I had two beautiful daughters (and still do).  My husband had a decent paying job.  No, we weren't rich, but I don't need a lot of money to be happy.  We made enough to pay our bills and still have money left over to buy the things we needed and a few things we wanted every now and then.  In other words, we weren't worried about money for the first time in awhile (or ever).  I only worked my normal 3 shifts a week and didn't work a bunch of overtime.  Because of that, I was able to enjoy my days off with my daughters and have a little time to myself every now and then.  Lastly, I was in better shape than I had been my entire life and I was loving it.  Not only did I look good, but I felt good.  I was so happy to have found a "hobby" that I thoroughly enjoyed and was proud of myself for doing it... running, training for races, and lifting weights at the gym.  I also had the thrill of climbing two mountain peaks in Colorado.  I knew right away (despite my sore body) that I found a new hobby.  I was happy... very happy.

Here's the ironic thing... just a few short months later, it all went down the drain... and fast.  For the first time in my life I was truly, utterly happy... and then everything changed.  I got sick and lost everything.  Everything that made me happy, aside from my children and my husband, went away.  Talk about a high and a low.  Why did this have to happen to me?  Why, when I finally felt truly happy for the first time in my life, did it have to all go away so suddenly?

Now I was I dealing with the exact opposite of true happiness. Many people in this world know about the grieving process.  Many have gone through it when they've lost a loved one.  Now I have gone through the grieving process as well.  However, mine is over the loss of my own life, not someone else's.  All of the things that I listed above that were making me happy were gone with the exception of my kids and husband.  My job/career, my friends (at least the majority of them), my work "family", running, my body (in two respects -the fact that my body was in the best shape ever and that it worked, period), and money.

I had lost all of those things 3 years and 5 months ago.  I have been through all of the stages of the grieving process, including acceptance.  I am in the acceptance stage now.  I do accept that this is my life now.  I know that I cannot go back to the way things were.  I do not pine after my old life anymore.  Well, not completely.  I definitely miss all of those things, but I know that my life will never be the way it used to be.  I may accept that this is my life now, but that doesn't mean I'm happy with it.

So, the question is this... How can someone who is chronically, progressively ill be happy?  How can someone be happy when they're sick all the time?  For those of you without a chronic illness, go back to my comparison to having the flu (Explaining Myself Again), which is the closest you can come to imagining what  life is like with chronic illness, even though it's still pretty far from what my life is like.  Imagine how your life would be and how you would feel if you had the flu every other week.  And on the weeks that you don't have the flu you get tired easily, you still feel weak, slightly nauseous, and in pain.  In other words, you never feel completely fine.  How would your life be?  Would you be happy?

I know I'm not.

Many people go through rough patches in their lives.  The difference is that for most people, they are able to see a light at the end of the tunnel.  Most of the time, people can say "this too shall pass."  For me, and most people, it is much easier to get through something difficult in life (the loss of a job, divorce, the death of a loved one, etc.) when you know it's only temporary.  No, the death of a loved one is not temporary and neither is divorce.  However, in both of those situations people are able to go on with their lives after awhile.   And please don't get me wrong.  I am not saying that any of those situations are easy... far from it, in fact.  I am just saying that, in most situations, people are able to get through it and after a period of grieving and adjustment, they can continue on with their life.
According to the CDC, about 1 in 10 people over the age of 12 in the United States take antidepressants.  And, up to a third of people with chronic illness suffer from depression.  Here is an article about chronic illness and depression - Chronic Illness and Depression.  The article states that "depression is especially likely to occur when the illness is associated with pain, disability, or social isolation."  Sound familiar?  Mitochondrial Disease, at least in my case, causes all 3 of those things.  I am in constant pain.  I have to use a wheelchair to get around at least 60% of the time after living a very active life.  And, as I've discussed many times, I am definitely in social isolation.

"Happiness is not something ready made.  It comes from your own actions." - Dalai Lama

I have tried to be happy.  I have found things I like to do that doesn't require much physical activity, despite spending the first 30 years of my life enjoying only things that do require physical activity.  I have become involved in fundraiser after fundraiser.  Actually, I haven't become involved.  I've created them myself.  I have spent energy I don't have helping others (friends, family, and the needy), as much as people will let me, since I'm no longer able to do so as a nurse. I even tried volunteering at my daughter's school.  I couldn't keep it up because I had to cancel too many times because I was too sick to come in.  They need someone who's going to be reliable and actually show up when they say they're going to.  I've added friends, gotten rid of "friends", and changed current relationships to try to make them better.  I've seen 2 different therapists since I've been sick.  I've even read books on dealing with life with a chronic illness.  So, it's not like I haven't tried.

"The two enemies of human happiness are pain and boredom." - Arthur Schopenhauer

There are only so many things a person with a serious chronic illness can do to make themselves happy.  What can you do from your bedroom or couch?  And then there are only so many distractions from the things that make you unhappy.

Nothing I've done changes anything.  I'm still unhappy.  I don't know how to be happy while feeling bad/sick all the time.  I do okay on my "good" days, but I'm not talking about how I'm doing from day to day.  I'm talking about overall happiness.

"The greatest happiness of life is the conviction that we are loved; loved for ourselves, or rather, loved in spite of ourselves." - Victor Hugo

Unfortunately, a big part of my happiness relies on my relationships with others.  Why is that?  Well, I've always been a social person who enjoys being around others.  I like to talk. (Even those of you who don't know me personally should know that by now based on how much I ramble on in my blog posts.)  I spend day in and day out at home by myself with my only connection to the outside world being my computer.  (Remember that social isolation I mentioned above?)  That takes a toll on someone who likes to be around people.  I try to make plans with others but people don't always want to come here.  The ones who do only come on occasion.  Because of that I try to get out and meet people places but I just wind up cancelling on them 75% of the time because I'm too sick and/or weak to drive myself there, sit up and visit for an hour or more, and drive myself home.  And, as I've discussed in multiple posts, the amount of help and support continues to dwindle.  If it wasn't for my mom it would be pretty close to none at this point.  The stupid thing is that I don't even want help with anything anymore. Would I appreciate it?  Of course.  But at this point in time I'd be happy with people coming over to visit with me for an hour or two, but that's a rarity.  My own grandma doesn't even want to come over and spend time with me most of the time.

I don't know what I do to chase everyone away.  Maybe it's a vicious cycle.  Maybe people don't come over because I'm not happy.  However, the fact that I hardly ever see anyone makes me unhappy.  I thought I was a good enough actor to make people believe that I'm okay.  At least enough to where people still enjoy hanging out with me.  Maybe not.

Writing has been very therapeutic for me. Hence, the blog.  Getting it all out there for others to see almost makes me feel as though I'm taking my problems off of my shoulders and letting them float away into the world.  There's still a little bit inside of me that I have to deal with, but the majority of it is out there for everyone else to learn from and maybe even help me learn.  However, I almost didn't even write this post.  I have thought about it many times during the last month or more and every time I just didn't feel like it would help.  In fact, I have even thought about how many times I have written about the same things... over and over again.  Why do I keep writing about them? Because nothing's changed.  Nothing gets better.  It's just the same thing, day in and day out.  I'm sick and I wish I had more people around.  That is my life.

"The mystery of human existence lies not in just staying alive, but in finding something to live for." - Fyodor Dostoyevsky

For me, that is my children and my husband.  The unfortunate thing is that they are the only thing.  The good thing, though, is that I'm not selfish enough to ever leave my children, no matter how unhappy I am.

So, I continue on.  I exist.  I go through the motions of a life that I did not wish for... a life that makes me unhappy.  I pretend to be happy.  I pretend to be okay.... physically and mentally... while I'm not. That is my life... now and forever.

Monday, May 13, 2013

The Loss of a Beautiful Soul

Two weeks ago the world lost a beautiful soul.  Elias "Eli" Tomkins passed away from complications from tonsils, adenoids, and ear tubes surgery and Mitochondrial Disease.  My "mito buddy", Eli, was only 3 years old.  He was my "mito buddy" because he was my only "friend" with Mitochondrial Disease.  Just before last year's Energy for Life walk I had gotten in touch with Heather Tomkins, Eli's mom, to talk to her about starting a team for the walk again.  She brought Eli to the Shopping for a Cure fundraiser at my house. That was the first time I met Heather and Eli.  After that Heather and I became friends.

Eli was such a beautiful soul.  He was almost always smiling, despite all that he had to go through because of Mitochondrial Disease.  He was in and out of the hospital all the time.  Even when he wasn't in the hospital he had nursing care 6 days a week at home to help his parents take care of him.  He had a severe case of Mitochondrial Disease.  However, despite all of this, his death was still a surprise.  Most children with this disease slowly (and sometimes quickly) progress until they are finally put on hospice and pass away.  That was not what happened in this situation.  Eli had a scheduled surgery to have ear tubes placed and tonsils and adenoids removed.  That surgery occurred on Thursday and he passed away in the early morning hours on Sunday.  The surgery and anesthesia was just too much for his body to handle this time.

This is a true example of "life's too short" and you never know what's going to happen tomorrow.  Being a friend of Heather's, it was so heartbreaking to deal with Eli's passing.  A mother should never have to bury her son.  Each and every time I would talk to my friend or receive a text from her, my heart would break for her.  She just couldn't handle it.  I don't know how I would.

Mitochondrial Disease is SUCH a horrible disease.  I have heard of way too many deaths since I was diagnosed and, therefore, became involved in the mito community.  And I'm sure I will hear of many more.  I was not ready for someone so close to me to pass away this soon.  I know a lot of people from the mito community, especially because of my work with the EFL walk.  I would be bothered by the death of any of those people, but no where near like I am in this situation.  I am closer to Heather and her family than I am to anyone else in the mito community.  That's why I took it so hard.

I was so pleased that Heather gave me the opportunity to help by asking me to bake cupcakes that she wanted to have at the visitation.  So, it may have completely wore me out to make 100 cupcakes, but I didn't care.  I needed to be able to do something.  Something more than just saying "I'm here for you."

There are several fundraisers coming up in the next few months for the United Mitochondrial Disease Foundation.  When thinking about the fundraisers and thinking about whether or not you should donate, how much you should donate, if you should reach out to everyone you know to donate, etc. etc., please think about little Eli.  Think about Eli's mother, my good friend Heather, and how she's feeling right now after the loss of her child.  Think about the research that's being done to try to find an effective treatment for Mitochondrial Disease so that children like Eli could live FAR past the age of 3 years old.  If all you had to do was talk to your friends and family and convince them all to donate $10, think about how much that would help.  Then add that to all of my other friends and family doing the same with their contacts.  The possibilities!!!

Since I brought up the fundraisers, I want everyone to put these dates on their calendars.  I have already sent out a "Save the Date" email but a few people have still asked about the dates.  So here's a reminder...

Shopping for a Cure
What:  Shop from numerous vendors who will donate a large 
portion of their proceeds to UMDF
When:  August 17th, 2013
Details:  When it gets closer I will be recruiting vendors to participate.  Then I will, of course, need shoppers.  The best way to pass along the information is by word of mouth.  So I will be asking everyone to pass out fliers and tell their family and friends.

Energy for Life Walk
What:  Raise money for UMDF by getting pledges from all of your contacts 
before walking with Team Mito*Gone*Driacs.
When:  September 14th, 2013
Details:  As you're all familiar with, you will hear from me numerous times prior to the walk to remind you about fundraising, signing up to walk, volunteering, and recruiting others to join our team and fund raise with us.  I will be planning and organizing the walk again this year.  This time with help from the person who organized the walks/runs in the past.  If you're interested in helping us prepare for the walk, please let me know.  We would love the help.