Something else...

Well the title is because I just got a new diagnosis the other day (Friday). First off my doctor gave me hell (in her own way) for skipping IV therapy so much. So I explained to my primary that I have been feeling like crud. I skipped about 3 weeks and my CK went up to just over 2200; and after getting lipids for a week it was down to just over 1500. She asked what was going on so I told her all my symptoms as of late; and she said "Hmmmm". (LOL)

She called the nurse in and had me lie down. She took me blood pressure and pulse; she had me sit up and she took BP and pulse again; and finally she had me stand and got the info. The nurse helped me sit back down and left the room to go talk to the doctor.

In comes the doctor and she is talking, but honestly my head was pounding and I couldn't pay attention. Really all I could make out was "you have POTS Chrissy" and "new medicine to help".

So I came home and looked it up...
What is Postural Tachycardia Syndrome?
Postural orthostatic tachycardia syndrome (POTS) is one of a group of disorders that have orthostatic intolerance (OI) as their primary symptom. OI describes a condition in which an excessively reduced volume of blood returns to the heart after an individual stands up from a lying down position. The primary symptom of OI is lightheadedness or fainting. In POTS, the lightheadedness or fainting is also accompanied by a rapid increase in heartbeat of more than 30 beats per minute, or a heart rate that exceeds 120 beats per minute, within 10 minutes of rising. The faintness or lightheadeness of POTS are relieved by lying down again. Anyone at any age can develop POTS, but the majority of individuals affected (between 75 and 80 percent) are women between the ages of 15 to 50 years of age.
Doctors aren't sure yet what causes the reduced return of blood to the heart that occurs in OI, or why the heart begins to beat so rapidly in POTS, but the current thinking is that they are the result of abnormalities in the sympathetic nervous system (which is responsible for decreasing muscle tone and increasing heartbeat in reaction to situations of stress or emergency) or the parasympathetic nervous system (which does the opposite) or both .
(taken from http://www.ninds.nih.gov/disorders/postural_tachycardia_syndrome/postural_tachycardia_syndrome.htm)
And...
The symptoms of POTS are life altering and debilitating at times. POTS patients use about three times more energy to stand than a healthy person. It is as if these patients are running in place all the time. Activities such as housework, bathing, and even meals can exacerbate symptoms (Grubb, Kanjwal & Kosinski, 2006). Research shows that POTS patients' quality of life is similar to those with congestive heart failure and chronic obstructive pulmonary disease (Benrud-Larson, Dewar, Sandroni, Rummans, Haythornthwaite & Low, 2002) Twenty-five percent of people with POTS are disabled and unable to work (Goldstein, Robertson, Esler, Straus, & Eisenhofer, 2002). Most patients will have to make some lifestyle adjustments to cope with this disorder.
(http://www.dinet.org/pots_an_overview.htm)

So...that explains a lot for me! December 1st I have a colonoscopy and endoscopy scheduled. I'm a little worried but they say it will help my digestive problems be diagnosed. My problems are too different from "standard" (their words not mine) CF digestive problems; and with my mitochondrial disease...well they just don't know. So getting these tests done will help figure out the puzzel that I am! (HA!)

Diagnosis

At the age of 16, we realized that I had a muscle problem. My balance was poor and I was constantly shaking. So I was refered to the National Institute of Health to try to figure it all out. In July of '99 I begged them to give me something to stop my cough before I threw myself infront of a bus (LOL They didn't think it was as funny as I did!) I was getting married and did not want to be coughing while walking down the isle. So... on August 5th, I went to see a Dr to rule out CF. I went in and sat down and she asked about my childhood. Constant ear infections, constant cough, diagnosed with Cronic Bronchitis and asthma...gall bladder out at 16, idiopathic pancreatitis... I remember the dr was nodding with every one of my symptoms. She even asked if anyone had ever thought to check me for CF, my mom was with me and she told the Dr that as a baby she told them I tasted salty when she would kiss my forehead. She told the Dr that my then pediatrician laughed at her. He told her that she was paranoid, because if I had CF I'd be dying. The CF dr looked up from her noting, and told my mother that they know so much more about CF now than in 1977 when I was born. The nurse came in with a watch looking thing. I had to wear it while it calculated the salt in my sweat. So we sat; me, my mom and the Dr, she was now asking my mom about my family history and about siblings. In turn the dr explained that if it was CF (she didn't say if she thought it was or not) my life would have to change. I'd have to take better care of myself, and I would need a huge support system. She explained tune ups and their protocol meds for the adult CF study (if I wanted to be in it) Finally they took the stupid thing off and said I needed some blood work done. My mom asked about the test asnd they told us that it was positive. But the doctor told me nothing was definate until the bloodwork was back. So done to the lab I went, with the promise of a call back.
So home we went! I had to call the DJ about the wedding, not to mention firm up everything else.
August 22, Wedding day!
August 23, That afternoon I got a call that the CF dr left an urgent message for me to call her back. I didn't return her call until the next day which was a monday.
August 24, I called the dr and she said I needed an appointment. I laughed and told her that I knew it must have been positive for them to want another appointment. She didn't deny it. So I made my first CF clinic appointment at NIH and then I hung up to call my parents. My mom and dad were both on the phone and I can't remember what I said....but I'll never forget their reactions...My mom said "no, Chrissy I prayed. It's no. You don't have it. Make them do it again." and my dad just hung up his end of the phone. He couldn't even talk to me. I found out later that it was b/c he was crying (my dad is a private guy), my brother is the same way. My brother talks about CF more now than before. Actually my mom had said that if you had mentioned it before he would just walk away.
I knew August 23rd. I knew it, and that night my new husband held me while I cried. (I was actually relieved to have a name but the tears weren't for me but for Frank and Kate.) I told him he should go. For his and Kate's sake...they didn't need me hanging on. I was sicker than either of us thought I was before we got married. I would hold them back... He brushed the hair out of my face and told me, "Chrissy, don't be stupid." (I was 21; he was 26 and Kate was 2) We told Kate August 24th together. We knew at 2 she wouldn't understand, but now we could atleast give my strange illness a name now. Today at 12 she educates her friends on Cystic Fibrosis. She leads her very own team at our Great Strides, Kate's Krusaders. My two mutations are R347 P and Delta F 508.

I also have two mitochondrial mutations, they were not identified until around the same time I was diagnosed with CF. G15995A in tRNApro and A8326G in tRNAlys are my two mutations, both are rare but one is totally unique to me. Which basically means I'm floating through life with out knowing what could be next!

For those who read this though...don't feel sorry for me. Seriously. I have a great life and the BEST supprt system!