Saturday, January 21, 2012

Planes, trains, and automobiles

Well... I guess there's no trains.   Sorry to you train lovers.  I hope you didn't get too excited.

The last 2 weeks have been a bit eventful.  Last week my mom and I flew to Atlanta to see one of the best mitochondrial disease specialists there are.  Everyone I've talked to has had nothing but good things to say about Dr. Kendall.  I first met her at the UMDF symposium in Chicago.  She gave multiple speeches on different aspects of mito.  If you think you might have mitochondrial disease, or you have been diagnosed with mitochondrial disease but you're still looking for a good doctor to take care of your mito needs, you should definitely call Dr. Fran Kendall.

I was originally diagnosed by another mito/metabolic specialist in Atlanta, Dr. John Shoffner.  I loved Dr. Shoffner when I saw him.  He is very intelligent and definitely knows what he's talking about.  However, trying to get anything out of him post diagnosis was like pulling teeth. I won't go into detail.  I've already used up enough of my spoons on being frustrated with him and his office.  So, you'll just have to take my word for it.

The trip to and from Atlanta was, as expected, very tough on my body.  The last time I flew was last March when my husband and I flew there and back in one day.  That was difficult.  There's no way I could do that now.  We flew down on Tuesday morning, had the doctor's appointment at 1 o'clock, stayed the night, and flew back to KC on Wednesday afternoon.  The flights both times made me pretty ill.  I have never had trouble flying (motion sickness) until my flight home from Atlanta last week.  During take off and landing I became very nauseous and dizzy if I moved my head at all.

I was not happy with the flight home.  The airline screwed up and didn't give us assigned seats close to the front of the plane when I called prior to the trip to let them know I would need assistance and that I have a wheelchair.  So, since it was a full flight, we ended up sitting in the second to last row.  My mom talked me into using the aisle wheelchair (I think they called it a jump seat) to get to my seat.  I was embarrassed.  I'm a 33 year old woman; I'm not paralyzed; but I needed a wheelchair because I couldn't walk the distance of an airplane to get to my seats in the back.  I was being stubborn and declined the aisle wheelchair when we were getting off the plane in KC.  After I walked the distance of the plane and got in my wheelchair right outside the plane, I realized why I needed the aisle wheelchair.  The good thing is, my mom got to hear me say "You were right."  That doesn't happen very often.  ;-)

As you can imagine, it took a few days, but I recovered.  Luckily, Dr. Kendall does follow up appointments via webcam.  So the next time I need to see my mito specialist in Atlanta, I will be able to do it from the comfort of my bed.

As for the details of the appointment... Dr. Kendall discussed genetic testing with us.   I have received the mitochondrial DNA test results from Dr. Shoffner.  The geneticist at KUMed told me that the mutation that was found in my mitochondrial DNA is causing my mitochondrial disease.  That specific mutation usually causes completely different symptoms,but a form of mitochondrial disease none the less.  Dr. Kendall, however, stated that she doesn't think it's likely that that mutation is causing my mitochondrial disease because  of the fact that it normally causes a completely different set of symptoms and disease.  She, therefore, recommended that I get my complete nuclear DNA panel tested.  However, it's completely up to me.  I am not going to get it done at this time.  It won't change anything.  She said there wouldn't be any change to my treatment plan.  It would only give me a definitive genetic diagnosis.  I did, however, ask her, with the information she had in front of her, along with my clinical picture (signs/symptoms), if she agrees with the diagnosis of mitochondrial disease.  Her answer was "Yes".  So, there's my second opinion.

She gave me a prescription for a medication that has helped many of her patients with dysautonomia.  If you're a dysautonomia person, and you want more info on the medication, email me.  Dr. K ordered some lab work that she will do at least once a year in order to keep an eye on all of my body systems (kidneys, liver, heart, etc.).  The geneticist at KUMed said the exact same thing.  He also stated that I need to have an echocardiogram once a year to keep an eye on my heart as well.  Last, but not least, she discussed getting IV fluids.  It's about DAMN time!  I was happy that I didn't have to bring it up myself.  She wants me to start getting a liter of IV fluids once a week to help me catch up on hydration.

With dysautonomia, I need to be taking in 2 to 3 liters of fluids a day... closer to 3.  However, because of my GI problems I usually only drink less than a liter.  As you can imagine, that causes problems.  If I have a day in which my nausea is worse than normal and I drink a lot less, it makes it very difficult for my body to catch up.  Getting IV fluids every week will start to help that.  It will at least make it to wear I don't continue down the vicious cycle of nausea, don't drink as much, dehydration which makes my nausea worse, more nausea, drink less....  well, you get the point.

My palliative care nurse and I started the discussion this week about how they will administer the fluids, PICC line or portacath. I won't bore you with the details of what each of them are.  Try wikipedia, my 2nd favorite website.

Unfortunately, we didn't figure it out and get it put in quickly enough to help me in my "mito crisis" this week that landed me in the ER.

And now, like your favorite tv show, I'm going to leave you in suspense. It's 1am and I'm struggling to keep my eyes open.  Soooooooooooooooooooooooo....

To Be Continued.............

No comments: