----- Original Message -----

From: inquisitivemind3

To: dysferlin@yahoogroups.com

Sent: Friday, August 22, 2003 4:11 PM

Subject: [dysferlin] New to the group

Hello everybody,

I'm so relieved to find a newsgroup dealing with dysferlin deficiency.
I'm very interested in what others are going through.  Thank you
Brad, for starting this.  Larry, no need to apologize for giving so
much background.  As far as I'm concerned, the more I can learn about
what others are doing and experiencing, the better.  Lucinda, I was
very interested in reading your detailed account.  Kendra, when you
say, "no one really understands, since we look like everyone else,
except when we fall and can't get up", I can totally relate.  I'm
always afraid I'll fall and sometimes I get embarrassed when going up
stairs, looking so healthy, yet climbing at a snail's pace.

Before I give the details of my background, I have a few questions:

1.Does anybody in this group have a history of MD in their family?  I
don't and I often wonder if I inherited dysferlin-deficient LGMD, or
have my genes mutated on their own?  I'm a quarter Colombian, a
quarter British, and half Slovenian.  It seems very unlikely that I
would inherit such a condition.

2.Marian, you said that exercise and physical therapy helped you
regain some strength back.  I was wondering what you do to exercise.

3. Most people mentioned high CPK and some inflammation.  I was
wondering if anyone had a high level of liver enzymes (alt and ast)?
Mine seem to be 9 times higher than normal.  I also have myotonia,
leading some doctors to think I had proximal myotonic myopathy (PROMM).

4.  A neurologist I was seeing in Montreal recommended IVIGG
(Intravenous Immunoglobulin) treatment and infusions of Solumedrol.
He said that while it wouldn't cure, it might help the inflammation
and increase my strength by about 20% with very little side-effects.
However, my province (Ontario) does not cover IVIGG for MD.  I was
wondering if anybody knows if such a treatment helps.

5.  Has anybody tried any alternative medecine to slow down the weakness?

Here is my background:
I used to work out quite aggressively almost everyday (weights,
running, aerobics, biking) and considered myself in excellent shape,
although my upper body seemed slightly weaker than most of my friends.
My legs, on the other hand were stronger than average.  At the age of
25, I went back to school, and being so busy, I didn't exercise as
much.  A year later, I noticed I was having trouble running, carrying
my nephew, getting onto a bus, and doing some of the more complicated
salsa moves (my passion).  I thought I was simply out of shape, but
when I tried to increase my level of exercise, I found it so difficult
to regain my strength back that I went to see a doctor, at age 28.  I
was first diagnosed with polymiositis, but was reluctant to go on
Prednison, preferring to seek a second opinion.  Two years later,
after two muscle biopsies and consulting with many specialists, I'm
finally diagnosed with LGMD 2B, although I'm still finding it hard to
believe and accept.

In the last three years, I feel as though my muscle strength has gone
up and down.  Some weeks I find the stairs easier to handle, other
times they're a real challenge.  Somedays, I have to spread my legs
and push with all my strength to get up from a low seat, other times I
require a little less effort.  I can still walk comfortably and for
long enough distances.  I find that being inactive makes me weaker,
but am not sure how much to push myself when exercising.

I hope people keep contributing to this newsgroup.  It certainly makes
me feel a little less alone.

Amanda    









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