Hello! I haven't posted in over a year, but I do try to check
in regularly. I guess there aren't many of us out there so this group
is destined to move very slowly. ( much like most of us trying to
navigate uphill or the dreaded stairs)
Brad, you and I haven't communicated in awhile so I was
wondering if you have made a full recovery from the broken leg. I
hope you are doing well.
For those folks new to the group, I am male, 37 , with
LGMD2B. I also began to notice problems in my late teens, but chalked
it up to being out of shape. I too was very athletic (
quarterback,pitcher, and 1st seed on the tennis team ) and frustrated
with feeling clumsy, slow, and weak. I became confused and very
unhappy with myself. I'd convinced myself that I just wasn't working
hard enough to combat the "normal" aging process. As my body was
ravaging itself, I was doing the same on a mental level. It was so
bad that I was actually somewhat relieved when my sister called and
told me to get tested after she was diagnosed. Mentally, it was a
relief to learn about the disease and the slow progression. After a
year long search through uninformed and unsympathetic doctors, I
found a good one at the local md clinic and I had my answer.
I continue to have high liver enzymes and ck. I guess
that's "normal" for us. I am now in a wheelchair part time and am
thankful to have it. My family ( wife and three children with another
due in november ) has rallied around me and provide me with
everything I could need. I am happy to accept my lot in life. This
new chapter certainly beats the last one where I was angry,
frustrated, and confused all the time. Hope this
helps.

Fret
--- In dysferlin@yahoogroups.com, "inquisitivemind3"
<inquisitivemind3@y...> wrote:
> 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