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Much Closer to Diagnosis.. In Fact.. About 90% Sure Now...

Mar 05, 2012 - 0 comments

So, after 20 years, it looks like I'm finally going to have a diagnosis.  I've been working with the Mayo Clinic, as I mentioned.  I started working with them in early January and I've been through very thorough diagnostics.  I'm still getting diagnostics, in fact.  Although the doctor wants to continue down a few other paths a little farther, just to be thorough, it looks very likely that I will end up with a diagnosis of Mitochondrial Disease.  This is a group of diseases where the energy of a cell depletes through activity and does not replenish properly.  Unfortunately, it is uncurable and untreatable.  It is also progressive.  The prognosis is very individualistic.  I am 43.  Based on my current health status and rate of progression, I expect that I will eventually end up using a wheelchair for longer trips, probably eventually end up working from home, and will need physical therapy the rest of my life on and off to strengthen my weakening muscles.  I am hoping that the swallowing problems, breathing problems, and blurry vision do not become so much worse that they severely limit my quality of life.  It's possible, but I refuse to worry about it until I have to.  

So, for those of you who have been looking and looking for a diagnosis.. don't give up.  But don't keep going back to doctors who give up either.  Go some place else.  I went to a lot of doctors.  I went to Barrows Neurology.  I gave up on them.  I was very impressed by Mayo.  My doctor, Dr. Tatini, was very, very thorough.  Every symptom I had - she listened to and she followed up on it.  I never felt like I had to prove something was wrong with me.  She 'got' it.  And when the test results came back negative - she didn't look at me like I was a liar.  It's was all about what the next steps were.  She never made me feel like I was taking up her valuable time.  And she is very focused on you having the best possible life you can.  You can find a doctor like that out there.  One who will turn over the stones until they figure out the mystery.  One who will make you feel like you're not in this alone.

Good luck.

Jen

The Mayo Clinic - Tests Tests and More Tests

Jan 23, 2012 - 0 comments

I have to say, I am super impressed with the Mayo Clinic.  Wow.  What an organized machine.  I happen to live in a city with the Mayo Clinic, so I decided that if I'm giving diagnostics one last go, which my doctor really wanted me to do, that I should cut to the chase.  And happily they are in my Aetna network!  Woot!

They start with an internal medicine specialist.  You fax your health history and meds in prior to the appt.  My specialist is Dr. Tahini and she is very nice.  Actually, just about everyone is very nice.  I mean, *incredibly* nice.  Thorough interview.  Then she decides what the next steps are.  She set me up for about a gazillion tests.  (I could care less.. test for anything.. just figure it out!)    Their scheduling department works with you to determine what days are best for your follow-on tests and appointments.  They scheduled several on a day if they fit.  It's very easy and professional and they give you a printed itinerary and directions about what is needed if anything for each appointment.  Amazing.  If you need to change your schedule, no problem.  They change it and send you a new itinerary.

So far I have seen an alternative medicine doctor who talked to me about diet, exercize, stress strategies and supplements.  I have had blood work and urinalysis, xrays, EEG, EMG, and MRI.  I have seen a pulmonary doctor for thorough breathing tests.  I have seen a gynecologist for urology issues.  I have coming up endocrinologist, neurologist specializing in headaches, neurologist specializing in muscular disorders, sleep specialist, hm.. what else...  I'm probably forgetting something .. oh, a physical therapist.  Then I go back to see Dr. Tahini.  All of these appointments are scheduled from January - end of March.  And, I can only see doctors on Fridays, so that speaks well to their being super organized.

So, I'm really impressed so far.  The kicker (and whether I stay impressed) depends of course on whether they figure out what is wrong with me.  Fingers crossed.

Jen

And so.. breathing is good

Nov 30, 2011 - 0 comments

I have been having trouble breathing.  It usually starts mildly in the afternoon.  I start breathing more shallowly, as my chest starts to feel "tight".  Then later it gets gradually worse.  Last night it was pretty bad around 8 or so.  I took off my bra.  Finally at 9 I went to bed.  I was going to use my inhaler but I thought, you know, if it is MG, then sleep should improve it.  I got back up at 11, and I did feel much better.  Fine in fact.  For .. about half an hour.. then the tightness started to come back.  No wheezing.  Just felt like my torso is being squeezed tight.  When I went to bed, I pulled pillows tight against my chest, laying on my side, with my head on 2 pillows.. but breathing was still pretty tough, so I put a pillow under my arm to raise my ribcage off the bed a bit.  That helped enough that I could sleep.  This has been going on for a while.  Ever since I fell down the stairs 6 weeks ago.. when my symptoms came back.  But it seems to be getting worse.  It used to just be an annoyance, but over the last 7-10 days, I find at night that I tend to not participate in activities I would usually do.. even sedentary ones like playing video games, because it's gotten bad enough to be really distracting.  I'm not usually getting dizzy though.  Mostly I just breathe shallowly for a while, then gasp to get more air.. hold it for 20 seconds or so to expand my chest (uncomfortable!) and then breathe out.. then I breathe shallowly some more.  I wonder if it might be good to use a nebulizer at night maybe.  If it gets much worse I'm going to have to do something.

I was reading about Myasthenic Crisis and I think I've actually had those before.. maybe.  It was either MC or just really bad asthma.  How can you tell?  If you have wheezing does that mean it has to be asthma only?  I'm not sure.  Sometimes I have wheezing and sometimes I don't.  When I first developed asthma after an upper respiratory infection in 1988, it was really severe for around 6 years or so.  I had to use an inhaler 4 x day, a corticosteriod inhaler 2x day and I was on prednisone several times.  I also had several (5 or 6 I think) trips to emergency rooms/clinics.  I was also treated at the doctor's office twice (most recently around 5 years ago).  Once I briefly stopped breathing all together, which was very scary.  I've been held for hours and many treatments at Kaiser and at ERs.  I don't remember how many treatments I had at Kaiser - that was my first emergency - but I remember one ER trip I had 5 treatments of prednisone by nebulizer and they wanted to do another one, but I said no because I was shaking so hard I thought I was going to vomit.  I remember Kaiser game me an EPI pen to carry around, but I never used it.  I was kind of scared of using it.

So, it worries me a little that I'm having trouble breathing.  But it's not as bad as I've had it before, so I want to try to just treat it with rest and xopenex for a while longer.  

I wrote the Mayo Clinic last night to see if I could get an appt there.  It sounds like they have a lot of experience with MG.  I want to go somewhere they have seen unusual presentations of MG before, because it seems like a lot of doctors who don't have experience with it aren't aware of the various presentations of it.. just the most common one (droopy eyelid & double vision).  

I am still very stoked at the possibility that I might finally get a diagnosis of something that might be curable.  !!!!  I can hardly comprehend all of the changes that would mean for me.  I've been dealing with this so long.  Since 1988 when I first turned 20.  It would be... magical.  Martial arts, horse jumping, roller skating, laser tag, doing my half of the cleaning at home!  Doing LAUNDRY!!  Being able to style my hair!!  Being able to go for long walks with my dog and go on bicycle rides, being able to swim by myself without a float in my hands.  .. I mean.. wow.  It would be a whole new world.  Please Please Please Please Please!!!!!!  :-D

Opthamologist Visit

Nov 29, 2011 - 0 comments

I saw the Opthamologist today.  His assessment is that my eyes look good.  He did see some irregularities, but because the irregularities are more subtle, he says he's not saying it IS Myasthenia Gravis, but that it's worth getting it checked out.  I'm not sure if his final dictation is going to show any of the irregularities or not.

That is kind of frustrating.  But I knew that the eye symptoms were subtle.  So, I'm not sure why I'm frustrated.

Eh.

Jen