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.