Re: definitive Dx LONG-WINDED

[Guest guest]

Barbara et al

I'm pleased and touched that you would remember my MERRF diagnosis (Athena),

from what seems like ages ago (but really, it was from blood drawn 12/04,

tested for the wrong panel, re-tested, and finally seen by me 4/05).

Although I haven't been posting lately, I'm still reading every

day. And very much appreciating my membership in this supportive and helpful

group. My latest saga, excuse the length as usual:

In late 4/05 I was supposed to see Dr. Cros of MGH, but he blew me off and

skipped to Turkey. I finally saw him 5/29/05. This visit was a real mixed

bag, of huge disappointments and a little bitty ray of hope.

First he told me what I already knew, that I had MERRF as seen in blood and

therefore from birth not spontaneous (although I personally believe I've had

some environmental triggers that may have " brought it out " , when and how,

and especially so for my multiple symmetrical lipomatosis). Then to my

astonishment he made as if to end the appointment, saying that there was no

cure, no treatment, no NOTHING. Didn't even mention CoQ10 or carnitine,

which by the way I believe have been helping me.

Fortunately from my research (spurred by previous runarounds) I was prepared

somewhat and tried to solicit REFERRALS, basically so that I can get out

from under the " care " of this neurologist. I asked for a referral to the MGH

MDA clinic, which confusingly is in some sense the SAME as his association,

Neurology Associates. He asked what could possibly be the point of that. I

wasn't too prepared and lamely mentioned the possibility of some metabolic

studies (I should have asked specifically about lactate/pyruvate at least).

He didn't seem convinced. I also brought up my need for a letter for SSDI

and another legal matter I'm in, but he just shrugged. I moved on, desperate

to make at least SOME use of this so-rare face-to-face.

I asked about surgery, for the giant lipomas on my neck that are clearly

causing me vast constant pain. That's when he suggested quite strongly that

I get off the Fiorinal that I take (usually rather little, lately a moderate

amount as it's the only thing that helps). He " prescribed " 800 mg. (4 pills)

ibuprofen, three times daily. That's quite a lot. I have tried this, with

some mixed success (I still need some Fiorinal).

Thinking quickly and still on my surgery theme, I asked (at LEAST) for a

neck MRI. I had long ago asked him for this and he had ordered a BRAIN MRI

instead. Which was negative for anything odd, and that's reassuring I

suppose, but not really what I wanted. So this time, he did order the

neck/cervical-spine MRI, I've had it done, but haven't seen the radiology

report yet. I was a bit relieved when the MRI doc said that they were

instructed to set up for " fat sat " (as in saturation) which I gather

especially contrasts fat. Of course, I knew that's what I should have, but

you really can't go talking T1 and T2 weightings with them, or they'll blow

you off as an Internet-surfer radiologist wannabe.

I did manage to wangle a referral to a cardiologist (Dr. Bloch of MGH), head

of some research lab (bane of my existence, they know a lot but they won't

listen). My appointment is for September, which seems like a long while to

wait for a complaint of intermittent chest pains. I think they hope I croak

first, which would save them dealing with me and my quirky non-standard

mito. Hopefully I can get some echo/stress tests and learn more.

Then he took me over to his AA, for scheduling the referral appointments.

That's when he floored me by stating that he would have his notes written

up, sent to the MDA and copied to me. Finally, the holy grail, I thought.

Well....not so fast. Since then I have been frequently on the phone (and

emailing) with his staff, getting one after another of the most frustrating,

nearly insulting, excuses. For FOUR WEEKS NOW I have heard that one

secretary was out for the week, then his dictated notes were finally

transcribed, then finally he was going to review the writeup, then he was

out of town, then the notes were " probably " on someone else's computer, and

so on and so on. And never will anyone tell me what the CONTENT is likely to

be, if/when I ever see it.

Again, sorry for the length. Perhaps someone here can read of my delays and

be comforted that theirs isn't as bad. :-)

Steve D.

> Date: Fri, 24 Jun 2005 08:48:37 -0500

>

> Subject: RE: definitive Dx

>

> , Yes yes! You are now officially rare in several ways! Rare

courage,

> rare beauty, rare mutation. I certainly hope this leads to better

> understanding of your disease pathology, and will in turn lead to more

> options and help.

>

>

>

> Isn't it interesting that two families post genetic breakthroughs back to

> back? What are the odds of this happening, given how few mito families

ever

> get the precise genetic address, the " home " for the disease? Maybe we're

on

> a roll here! One can only hope. Steve got his MERRF diagnosis a while

back.

> Who's next? Step right up!

>

>

>

> Barbara