Wednesday, March 2, 2011

Answers, Finally. part 2

I will be adjusting my activity levels according to my symptoms.  I should not stay 100% sedentary (bed ridden), but I have to be very careful that I do not over do it.  I have to do a small amount of activity followed by a larger period of rest.  I may increase my activity levels, but it must be done in baby steps.  And I really mean baby steps.  Look at it this way.  If I currently walk an 1/8th of a mile 3 times a week, I need to continue to do so for three months.  At that time I can increase to 1/4th of a mile.  That may even be too much.  If my symptoms indicate that I have done too much, then I need to go back down to 1/8th of a mile again or maybe a slight bit more.  I would then have to wait another 3 months before I increase it again.  This analogy was given to me by the doctor.  I was pleased because, as someone who has trained for multiple races, increasing my mileage weekly, I could understand it very well. 

So, I have signed up for a 5K in 2017.  Okay, not really.  In fact, I will not ever be able to do things that require energy for long amounts of time anymore.  Looks like I'll just have to volunteer to help at those races now, instead of running them.

There is a couple of problems with mitochondrial disease in regard to finding a cure and/or treatment.  First of all, it is a rare disease.  Most doctors don't know anything about it.  There are only a handful that actually specialize in it.  The other problem is that there are 1400 different genes that they have found that cause mitochondrial disease.  If you are diagnosed with another type of genetic disorder, (the doctor used cystic fibrosis as an example) it is caused by the game gene as everyone else who has that disorder.  However, there are so many genes that cause mitochondrial disease that it is difficult to find a treatment that would help everyone with the disease.

Dr. Shoffner does a LOT of research for mitochondrial disease (sometimes termed "mito").  He stated that they are advancing fairly rapidly (rapidly for the medical research community at least) in creating a medication to help patients with mitochondrial disease with their symptoms.  So all I can do is hold out hope that better treatments will be discovered in years to come as research is done.

I will be adjusting my diet as well.  I need to eat approximately every 2 hours, even if I'm not hungry.  If I'm hungry, I've waited too long, which I have already discovered before the doctor had told me that.  I need to make sure I'm eating complex carbohydrates and not simple carbohydrates.  I will be doing more research on my diet.  I also hope to see a dietitian in the near future.  Dr. Shoffner said that they are hopefully going to have one on staff there in the future.

While I was in Atlanta, I had more blood drawn and I also had another cardio-pulmonary stress test.  He wants to see how I have progressed, whether for the better or worse, since my last appointment and stress test.   I don't know what tests he is doing with the blood he had drawn.

One of my big questions was whether I need to worry about my two daughters having mitochondrial disease, since it is genetic.  He said that we will go over that the next time I see him.  Between now and then he will be doing genetic testing on my blood and/or muscle tissue which will enable him to discuss this with me.

All in all, I am pleased.  Yes, I have just been told that I have a life altering disease in which there is no cure.  However, I have been trying to figure out what exactly is wrong with me (other than the obvious mental issues), for a year and a half.  My life has been on hold.  I've been waiting to find out what is wrong with me so I can make it better and get back to work, life, etc.  Now that I know what I'm dealing with, I can do just that, deal with it.  I may not be able to go back to work as an ER nurse, but now, with this diagnosis, I should almost definitely receive disability.  Almost definitely.  I think that's an oxymoron.   Anyway...  I may not be able to run a 5K, but I can volunteer to help with one that raises money for mito research.  Now that I know what I'm dealing with, I can make plans to adjust my life accordingly.


Michelle Roger said...

I'm not sure if I should say congratulations or not, though sometimes a diagnosis is very worthy of a party. I do hope his gives you some peace of mind and a good concrete step to start off from. At least you know what you are dealing with now and when people ask you can say "I have mito", that can make a huge difference :)

Robin said...

In this case, it was worthy of a small celebration. I have been searching for a diagnosis for so long.