newly diagnosed with CPEO

March 29, 2006

I was presumptively diagnosed with CPEO in December. I have not had a

muscle biopsy and am so frustrated with my doctors right now. I'm from

New Orleans, and many specialists are not currently in the area due to

hurricane katrina, and those I've seen do not seem to know or offer much

information- they say, " Yep, looks like CPEO, see ya in 6 months. " The

only reason I know what it is is because of the research I've done

online. I have done research day in and day out. When I was 14 (12 years

ago) my right eyelid fell. Over the last 2 years or so, the eye began

drifting, and yesterday, a strabismus doctor said it's nearly frozen-

only moves down, but in no other direction. My other eye is just now

starting to lose function (supposedly).

I realize this is a rare disease and that the doctors have good reason

(therefore) for not offering much info, but the more research I do, the

more hope I find...of course, the scarier it gets too since I find more

scarey symptoms. I've had heart flutters since around the same age the

eye started drooping, but thought it was b/c mitral valve prolapse

(heart murmur) runs in my family. But now I'm connecting other dots. And

then one website says lifespan is generally not affected, while another

says " death is common by third or fourth decade! " And then I see people

who have CPEO also have MELAS or others etc etc etc etc etc...But the

hope stems from the research *supposedly* (i'm very cynical...sorry)

going into mitochondrial disease. I read something somewhere about

" future " possibilities of some kind of mitochondrial replacement therapy

or some junk like that...

Bottom line though, is that I have yet to find a physician who knows

anything about the disease. And I'm actually quite unnerved by the

varying and vastly different sometimes contradictary information I find

online. And if there is some miracle cure, what if I don't hear about it

because of uninformed doctors??? Help! Am I doing something wrong? And

why is it that when other patients with this disease talk about it

they're like, " Oh I'm have complex blah blah with a missing goppelty

goop and a defunt blipperty blap? " Why don't I have that information???

I swear I feel like a chicken running around with no head! [(]

March 30, 2006

Much of what you are feeling (and thinking) is shared by many of us. There are

very few physicians who have a strong knowledge base and understanding of any

component of mitochondrial disease.

Those patients/families that know the specific respiratory chain complex

defect or genetic defect generally didn't come by that piece of the puzzle

easily or quickly. In my family we've acquired quite a bit of information over

YEARS gathering each piece form different places and physicians. To compound

the challenge, what tests positive one tiome at one center may not at the next

(or in the next tissue sample or lab draw). That is the nature of the beast for

many of us. Another challenge is obtaining appropriate care. Many of us travel

miles from home for even the most basic of care. There are no local docs who

are knowledgeable or willing to render the care required. The truly

knowledgeable, experienced physicians may have closed practices or have waiting

lists years long. Or, you finally succeed in gettign to see them and they leave

the facility changing to one not acceting of your specific insurance.

There is quite a bit of research in the field of mitochondrial disease but

much of it is centered in basic science (not at the patient or clinical level).

Mnay of the published reports do paint a grusome picture. Often in medicine it

is the worst case scenerio that is described. Granted, many individuals with

mitochondrial disease have extreme medical issues. Another consideration is

that MANY individuals who are mildly affected do not get diagnosed. Their

specific medical issues are addressed but they are clinically stable and don't

have a physician that pieces all of the issues together to delve into a broader

process or diagnosis. My daughters were not diagnosed until until both had

clearly defined, multiple medical issues and one physician believed it had to be

a more global process that was causing the myrid of issues in both girls. Even

with that physician's belief it took three additional YEARS, during which both

girls experienced signs/symptoms in several

other organ systems, to begin to unravel the mystery.

I honestly don't know that a true cure or effective treatment will become

available in their lifetime(s). When I'm real honest with myself, I doubt it.

But the physicians who are involved in their care, and their participation in

specific research protocols, will contribute to the growing body of knowledge

and potential treatments. For now, their care is definitely supportive. And,

there are times, I have to fight difficult challenges to obtain appropriate

support.

Do my daughters and I get frustreted? You bet. Yet every morning when they

awaken I know there is hope they will be here to bless our family tomorrow.

jaynembertrand jayne.bertrand@...> wrote: