Thursday, May 29, 2014

Starting a New Chapter...

I'll get right to the point. I saw Dr. Fran Kendall, a world renowned Mitochondrial disease specialist a few days ago. This was the appointment I've been waiting ten years for. TEN YEARS! I have a lot to tell you, so go get the popcorn and soda (this could take a while); I'll be waiting.

The first part of the visit was spent going over my health history and discussing my current symptoms. Next, Dr Kendall gave a brief explanation of what mitochondrial disease is and she discussed the tests she uses to help make the diagnosis. Nearly all are blood and saliva testing. I was so glad that my husband was there. He was taking notes on his Ipad. For the most part, I have a pretty good record of everything that was said. My brain was just not comprehending it all.

We had just about finished our discussion when Dr Kendall said she was anxious to get me in the exam room as she could see my skin turning colors. I was amazed that she was already "examining" me before she even started the exam. On exam, she noticed things that no other doctor has. For one, she said I have a lot of weakness in my girdle muscles. She noticed the discoloration of my skin even more and the temperature of my skin. Parts were very cold while other areas were very warm. Based on what I told her and the exam, she said I have a pretty severe case of Dysautonomia. She's starting me on Mestinon, which ironically is the same med the one doctor (MDA Dr who felt genetic testing was a waste of time. Seriously.) took me off of. She also found that I have Ptosis in one eye. After reviewing my symptoms and doing an exam, she said mito was definitely a possibility. So, based on all of her findings, she's ordered several tests. The first set of tests I can just go to a local lab to have done. They are all blood and urine tests. The other tests are ones I can do at home, then send in. One is a saliva test, the other a buccal swab test. I have to swab the inside of my cheek and send the DNA in to the lab. These tests will check my mitochondrial DNA for mutations and the function of how well various complexes of the mitochondria are working. The blood tests will probably be back fairly quick, but the others will probably take months. There are supplements that mito patients can take, but she didn't want to start me on any because she was afraid it would skew the test results. There's a chance these tests might not show anything, if that's the case she might move on to the exome sequencing. I feel like I'm in good hands regardless of what the tests show. I think Dr Kendall will keep looking for answers. It may not be until the testing becomes more accurate, but I have faith that she'll stick by me. I'm normally not that confidant in a doctor. Honestly, I usually have very little confidence in doctors, but I truly believe she is different. Next week, I'll start with all of the testing.

I think this could not have come at a better time. I have been so, so sick the past week or so. Our trip to Atlanta finished sending me over the edge as far as being in a full-fledged flair. I've had to take pain meds the past three days. Also, my stomach has slowed down a lot. I explained a bit of what was happening to Dr Kendall and she believes I could have gastroparesis. Gastroparesis is when your stomach doesn't work as well as it should; in essence, it slows down and food can sit in your stomach for a longer than normal time. In my case, I can eat a meal and 8 or more hours later, I'm still full. That is so not like me. She gave me some tips on how to control the symptoms from the gastroparesis. Eating smaller meals more frequently, avoiding certain foods, etc. It's something new that I need to research.

In other news, our youngest daughter's  latest biopsies (after a three month round of steriods), show she still has active microscopic colitis. So, she's back on another three months of steriods. Then, another round of biopsies. We're hopeful that this will take care of it, but if it doesn't her GI wants her to go to IU Medical in Indianapolis for a consult as he thinks they may need to try something stronger, perhaps the disease modifying drugs. Besides the colitis, she is still having issues with her blood sugar (it was 50 right before her last GI procedure!) and blood pressure. And, oh, she was diagnosed with EDS. She scored an 8 out of 9 on the scale they use to diagnose EDS. At 21, really at any age, that is a lot to deal with. She does a very good job with her diet, but I'm afraid she pushes herself in the exercise department. Don't get me wrong, I'm glad she loves to run and work out, but I do not want her to overdo things. I'm sure it's just going to take time for her to learn what her body can tolerate. She's taking classes this summer, working and babysitting. Her days are all pretty full. I don't know, maybe it's better that way in some respects as she doesn't have as much time to worry about things. Because of her medical issues and our other two kids' medical issues, I think Dr Kendall had another piece of evidence that points to mitochondrial disease being a real possibility for our family. I believe that it's so important to keep on fighting for the proper diagnosis, if not for yourself, for your children and their children.

In still other news, our son and his fiance arrived in town last weekend! He immediately went back to work at  his former summer job at a tree service. It always makes me nervous when he's working there because he's climbing up in trees, dangling from a crane, etc.  Although, they are very good about following the proper safety procedures. Still. We are down to three weeks before the wedding! I'm so excited. And quite nervous. I'm probably right in the beginning of the biggest decline I've seen since I got sick. The timing couldn't be worse. There are two bridal showers and while I wouldn't have to go to them, I want to. Then, there's the rehearsal and dinner, followed by the big day. Even though the reception is at a hotel less than five minutes from our home, we've talked about getting a room for the night. If we had one, I could go back and forth to rest when I needed to. But, I don't want to miss out on one thing! I'm just hoping I start to improve soon, then maybe I'll be back to my previous baseline by the wedding. I know I'll be resting up as much as I can the week before the wedding.

Please feel free to share my blog. I have it set to private, mostly to keep trolls at bay. But, I know by doing so, I may be missing some potential readers. I have not been very good about updating it on a regular schedule, but I believe with all that we are dealing with now I probably should.

I'll be back soon with part 2 of my visit and the days following.

Shari

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