Wednesday, December 19, 2007

Dysautonomia and Mitochondrial Disease



Will recently took me to Ohio to see a specialist, Dr. Grubb.  The trip went well, and we were even able to have some fun.  While in Ohio I had the opportunity to visit with a dear dysautonomia friend, Melissa. Later on in the week we were also able to visit my sister, Krista.  The visits were tiring, but very much worth it!  Here is a picture of Melissa, Will, and me.  Unfortunately, I don't have any pictures from my visit with Krista.

The visit with Dr. Grubb was a good one.  He was very kind, compassionate, and knowledgeable.  It was nice to go to a doctor who knows so much about dysautonomia.  As I was telling him about my medical history it was wonderful because he "got it."  Plus, he started to put pieces together that no doctor has before.  He was able to see the whole picture, and not just POTS plus a few other random symptoms. 

There isn't much more that can be done for me as far as dysautonomia treatments go.  Dr. Grubb said that there are only two medications left for me to try.  We are currently doing one med trial, but as of today I've received no benefits from that med.  When we are finished with this medication trial, I will hopefully try the last med.  It is an injection that runs at least $12,000 a year, however, so I'm not sure if my insurance will cover it.  They have already denied me for 3 other medications that are much less expensive, so I'm expecting a denial for the $1,000/month med as well.  One of the most frustrating things about dysautonomia is trying a medication sample from a doctor, finding that it actually relieves a symptom, and then not being able to continue taking it because of insurance not covering the medication.

Before going on with life as it is, there is one more road we must go down for testing and possible treatment.  Based on my medical history, early onset, symptoms, severity of symptoms, progression, and lack of response to treatment, Dr. Grubb thinks that I have a mitochondrial disease.  There are many different types of mitochondrial diseases, and they are generally considered progressive.  There are no cures for them, and treatment usually just slows progression.  This area of medicine still has many unknowns.  It is even more confusing than dysautonomia, if that is possible!  If you would like to read a short article that gives an overview of Mitochondrial Disease, here is one that is easy to understand: MitochondrialDisease.

In two months we will again be traveling to Ohio, this time to see a specialist in the area of Mitochondrial Diseases, for evaluation, blood work, and a possible muscle biopsy.  Knowing for sure if I have a Mitochondrial Disease may not help much in the the area of treatment, but it would be nice just to know if I have it. 

One really cool thing about my visit with Dr. Grubb was some of the dysautonomia history that he shared with me.  There are actually medical papers as early as the 1800s that clearly describe POTS.  There is even a painting from the 1600s that appears to be of a woman with POTS!  If you'd like to see the painting, it is now on my Dysautonomia page.
 
Regular Life Update:


Our son, William, has now turned 2 years old.  We had a simple, but fun, celebration here at home.  William loved the balloons, the cake and ice cream, and the fish that were on his cake.  He carried the fish everywhere for a week, and still likes to sleep with them sometimes.  William still plays with the balloons that he piled into the bathtub, and he also now likes to watch the video of his birthday party.  Fun times. :)

William is learning new words and new tricks all the time.  The newest additions to his vocabulary are: nope, no way, chips, Christmas tree, abc's, seat, food, Veggie Tales, fish, love you, and mama-mia!  His newest tricks are: turning on/off the lights, turning on the gas fireplace with the flip of a switch, navigating around in my wheelchair, and piano playing that actually sounds good!

My sister, Krista, came home from college for Christmas break last week.  We are all glad to have her home for the holidays.  William was so excited when she came home that he could not contain himself.  He was running about the house like crazy!  He has settled down now, though, and is showering Krista with hugs, snuggles, and an occasional kiss. 

At the end of this month Will and I will be celebrating our 5th wedding anniversary.  We don't have any fancy plans, but perhaps Aunt Krista will be willing to babysit William so that we can go out for dinner.  (Hint, hint, Krista! :) ) We thank the Lord for 5 wonderful years together, and pray for many more.

Thursday, December 13, 2007

Dysautonomia Health Updates


Health update:

Since moving to Atlanta I have had the opportunity to see several doctors and have had many tests run.  God has blessed me with some wonderful, caring, and intelligent doctors who have all been willing to help me in any way they can.  I am thrilled with my primary care physician, my POTS doctor (an internal med physician), and my sleep specialist.  I couldn’t have asked for a better team of local doctors.  I have also had the opportunity to see an electrophysiologist and a rheumatologist. 

In my time here we have had numerous tests run including an MRI, an echocardiogram (ultrasound of my heart), a sleep study, and more blood work than I can remember.  Because my health has become dramatically worse in the past 4 years, we have been checking to see if I might have something other than dysautonomia.  So far nothing else has been found. 

We are at the end of the road as far as tests and treatment go here in Atlanta.  My doctors have been telling me for quite some time now that I need to see the specialists.  It is time to go see “the best of the best.”  In December I will be going to Toledo, Ohio to see Dr. Grubb.  He is one of the leading researchers in autonomic dysfunction.  All he does is research and treat people like me!  Dr. Grubb comes highly recommended by physicians as well as patients.  This will be a long trip (2 day drive both ways, plus 2 days in Toledo), but we are hopeful that it will be worth our time and money.  My parents are going to take care of William so that we can make the week long trek to and from Dr. Grubb.  When I get back I will give a report about what Dr. Grubb said and what we learned.

There haven’t been any overall improvements in my health since going to doctors here in Atlanta.  However, we have been able to stabilize my condition somewhat with a good med combo.  It is a fight to get my insurance to cover all of these medicines, but we’ve had a little bit of success.  My insurance still won’t cover Provigil, though, so I’m drinking coffee instead.  Woohoo!  I love an excuse to drink coffee!
  
Regular Life Update:

As William is growing up, it is becoming easier for me to take care of him.  He is even learning to be helpful now!  He has one chore: throwing away his dirty diaper.  After I change him, it is his responsibility to carry his diaper to the kitchen trash can.  This saves me some steps, and teaches William some responsibility!

William likes anything with animals, and can distinctly make about 40 different animal noises.  He has cards with random animal pictures (everything from a ladybug to a caracal).  One of his favorite things to do with me is lay all of his cards out on the floor for a quiz.  I then ask him to point to a particular animal - he gets it right every time!  He has an amazing memory. 

William’s most recent trick is a summersault.  He has discovered that he can do these all by himself now and is quite proud of that fact.  He cheers for himself every time he completes a summersault.

Will is working at a Publix deli down the road while we wait for a permanent ministry opportunity.  He is enjoying his job at Publix, especially the people he works with. 

Lately I have been busy trying to get my website up and running.  When I get caught up with my website I hope to work on William’s scrapbook again.  So far I am only to Christmas of 2005.  I’m almost two years behind! 
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