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

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From: dysferlin@yahoogroups.com [mailto:dysferlin@yahoogroups.com] On Behalf Of John B
Sent: Monday, November 12, 2007 9:52 AM
To: dysferlin@yahoogroups.com
Subject: Re: [dysferlin] Introduction and Seeking Advice for Home Care

I'm 24 and have real trouble with stairs and getting up from chairs.  I will be getting married in about 2 years.  She is aware of my problem but I'm afraid that it will be too much for her later.  How has it affected you and your family if you don't mind me asking?

joshtc3 <jthayer@eapdlaw.com> wrote:

Hello Everyone,

Josh Thayer here, a 42 year old MM patient from Boston. I am a new
member, though I have communicated with Brad (our moderator) some
over the years and know Plavi at the Jain Foundation.

Here is my quick, relevant history:

Summer of 1981 (age 16) - trouble using stomach cruncher machine on
Nautilus.

Fall of 1987 (age 22) - noticed flatness to calf muscles and
difficulty standing on toes and went to see a podiatrist because I
thought maybe I need inserts in my shoes (!) - was referred to a
neurologist and then a neuro muscular specialists at Tufts, first,
and then MGH (Dr. Munsat and then Dr. Robert Brow).

Spring of 1988 or so, I was actually diagnosted with Miyoshi based on
my symptoms and CPK reading and before the gene was identified.
Seems I was lucky not to have had long false diagnoses based on
others' experiences.

Fall of 1989 tried oral prednisone, which did nothing to my CPK and
made me feel weaker (strength came back when stopped taking in).

Summer of 1992 put on methylprednisolone IV. CPK went down, but
strength did not improve and drug made be fatigued.

1999 absence of dysferlin confirmed by biopsy and premature stop
codon confirmed by blood based mutational analysis.

Winter of 2000/2001 enrolled in gentamycin trial at OSU because of
stop codon diagnosis. No benefit.

Fall/Winter 2005/2006 enrolled in Myostatin trial at Brigham Women's
Hospital (Boston). No benefit.

When I was first diagnosed in 1987 (age 22), I could still run
somewhat awkwardly, but could not stand on toes. By 1992 (age 27), I
need a cane to walk up stairs and ride public transporation. By 1994
(age 29) started to have trouble getting out of chairs. By 2001 (age
36) was unable to climb single step even with assistance.

Now I am married and my wife is more and more having to take care of
me, which is becoming very difficult for each of us. I still work
full time, as a lawyer, but am really not at all sure how much longer
I can keep that up.

So, that's my history. This is a great site and I hope to see it get
more active than it appears to have been in recent months.

My question for the group: Has anyone started to rely on home care?
Any suggestions for how to go about it?

Regards,

Josh

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