I will definitely keep you posted on my progress. I actually
registered with the Jain Foundation yesterday and they will be
calling me tomorrow to discuss my case. I would much rather do the
mutational analysis than to have the biopsy done if at all possible.

--- In dysferlin@yahoogroups.com, "Thayer, Joshua" <jthayer@...>
wrote:
>
> Hi Donna,
>
> I agree that you should contact the Jain Foundation about getting a
> mutational analysis done. Muscle biopsies are typically done to
test
> for the presence or absence of the dysferlin protein, but they do
not
> diagnose whether or not a mutation in the DYSF gene is the reason
for
> the lack of protein. Having a confirmed mutation is important,
because
> different potential treatments that are currently being researched
(and,
> in one case, is in Phase II clinical trials for Duchenne Dystrophy)
> might help address only certain mutations.
>
> As I recall, the Jain Foundation will fund the mutational anaylsis,
so
> it might not cost you anything. Also, that test is on blood, not
> muscle, so it is much less invasive than a biopsy.. And the folks
at
> the Jain Foundation are amazing. They might have some insight on
what
> you have undergone so far and what you might consider going forward,
> though they do not render medical advice. Just knowing that such a
> gifted and hard working group of people are dedicated to finding
> treatments and a cure for this condition is comforting.
>
> I was diagnosed in 1988 with Miyoshi Myopathy and the symptoms you
> describe are quite similar to mine (although my CPK was sky high the
> first time it was checked).
>
> Good luck with this and, if you don't mind, please keep sharing your
> experiences with the group.
>
> Regards,
>
> Josh
>
>
> Joshua M. Thayer
> Edwards Angell Palmer & Dodge LLP
> 111 Huntington Avenue at Prudential Center
> Boston, Massachusetts 02199-7613
> Direct: 617 239-0518; Fax: 617 227-4420
> www.eapdlaw.com <http://www.eapdlaw.com/>
>
>
>
>
>
> ________________________________
>
> From: dysferlin@yahoogroups.com
> [mailto:dysferlin@yahoogroups.com] On Behalf Of DeejLouise
> Sent: Sunday, August 03, 2008 4:05 PM
> To: dysferlin@yahoogroups.com
> Subject: [dysferlin] Testing for a Diagnosis
>
>
>
>
> Hi all,
>
> I have had quite a few tests including an EMG which indicated
> that
> more muscles are affected than what I first thought. I only
> thought
> my calf muscles were affected, as I have noticed a
significant
> decrease in the size of my calf muscles and am unable to toe
> walk.
> An MRI indicated fatty infiltration in my lower back muscles.
I
> also
> have had some blood tests that measured my Creatine Kinase
(CK)
> level
> and dysferlin protien levels. My CK level was 147, which was
> slightly higher than the normal range, and I had "detectable"
> levels
> of monocyte dysferlin. According to my doctor this does not
> necessarily rule out Miyoshi myopathy or LGMD 2B. The next
step
> is
> for me to get a muscle biopsy, although my doctor states that
a
> biopsy may provide no additional diagnostic information.
>
> So my question to this group is what tests did you have done
> other
> than genetic testing, that gave you a difinitive diagnosis.
I'm
> wondering if I'm wasting my time with a muscle biopsy. I have
> been
> to two neurosurgeons and two neurologists. Only one had a
> different
> opinion as to what I have, the other three agree that I have
> some
> sort of muscular disorder, specifically MM or LGMD 2B or some
> variation of this. I haven't considered the genetic test due
to
> the
> cost and insurance not covering any of it. I really would like
> to
> know what I'm dealing with and what my future possibly holds,
> but I
> feel that I'm running in circles trying to get an answer.
>
> Any input would be appreciated
>
> Thanks,
> Donna
>
>
>
>
>
>
> _______________________
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