Hello

[Guest guest]

I am a 44 year-old female, with ptosis and lack of movement in both eyes, which

first

became noticeable 14 years ago, when I was diagnosed with CPEO. I had double

bletharoplasty 12 years ago, and my eyelids mostly remain above my pupils. I

was told

that I needed to have an EKG every six months, and if my heart had no problems,

I would

have a normal life expectancy, with some probable vision issues. I was told

there was no

risk of passing the disease to offspring.

The CPEO does not seem to have progressed much, and most of the time both

eyelids still

open to above my pupil line. My vision has worsened somewhat and my left lid is

pretty

droopy.

About 5 years ago, after the birth of my second child, I began noticing lack of

tone in my

right arm, and both muscle loss and lack of movement on the right side of my

face. I have

been experiencing some exercise resistance and increased cramping in my legs and

weird

gastro-intestinal activity in the last year or so. I was a competitive athlete

when I was

younger, and after a 10 year lay-off, have been trying to get back in shape.

I've been

walking 4-5 miles a day at a brisk pace for several years, I find I grow

progressively more

tired as the week progresses, and it seems like after walking, I am cold and

can't get warm

again for hours.

Last summer I was diagnosed with hypothyroidism, and venous insufficiency. I do

not

know if there is any relationship to my mitochondrial problems. No one in my

family

shares my symptoms, but my mother's brother died of ALS seven years ago, at age

51.

When I was first diagnosed, my then doctor (an opthamalogist) refused to do a

muscle

biopsy. I saw a neurologist for the first time 16 months ago and he only agreed

to the

procedure after tests for MG proved negative and an EEG and MRI were normal.

The

biopsy was done at the end of November '05, and the initial pathology results

were

" myopathy of an unknown type " . The lab was supposed to forward the sample to

another

lab for additional testing, but there was a mix up, and the samples were only

recently sent

out.

Last week, based on the initial lab results, I was diagnosed with KSS and

referred to the

local MDA clinic. The neurologist believes there is risk I have passed this to

my two

children. I have been researching like crazy, and haven't found much to support

a KSS

diagnosis, other than the CPEO. My symptoms did not occur until I was 30, my

heart is

good, and my hearing is great. I am concerned about my children (neither have

symptoms)

and what my prognosis is. I really would like to see a mitochondrial

specialist, and am

trying to figure out how to do that.

Does anyone have any ideas? My healthcare provider (a university health system)

has been

really bad with referrals and scheduling. I have all kinds of questions about

supplements,

nutrition, exercise, and general preventative maintenance to try to slow or halt

the

progression of what ever is happening to me. I'm scared and desperate to talk

with

someone who knows what they're doing

Thank you very much for any help or guidance you can provide.

Kathleen