Intro

[Guest guest]

Group,

My daughter is currently labeled with " undefined congenital myopathy " .

She had delays in crawling,difficulty in nursing, talking,smiling. Most of her

weakness was/is torso,shoulder,neck and face. Her biopsy at 15 months only

showed fiber type 1 predominance. As predicted she did seem to stabilize and hit

her milestones. She could handle elementary as long as she could rest in the

evenings and we kept our weekends low key.

She hit puberty at age 10 and started progressing- now doesn't fit her original

diagnosis.

She currently is having racing heart issues, kidney(dumping protein and

blood)bladder(visual blood- a few times a month)kyphosis/scoliosis is getting

worse and she feels it leaves her breathless(next ortho appt in Feb.)

Tons of fatigue and now we broke down and use the wheelchair for shopping and

walking activities.

On the positive- she is an exceptional student. She started college last year

at 14.

We are currently seeing a bunch of Drs.- but we are held up by her neurologist.

The neurologist ran metabolic bloodwork over 14 weeks ago and still doesn't have

it back-the rest of her Drs. including her dentist(4 impacted wisdom teeth)won't

move forward until the neurologist gets the results. We are annoyed with the

neurologist but trying to be patient-we don't think it is any of the metabolic

things she is testing for, maybe Mito but she is not testing for Mito yet.

Of course we are reading the symptoms lists for many different neuro muscular

diseases and our Pediatrician asked whether SMA type 3 had been ruled out- it

hasn't yet.

Which brought me here. :-) I am lucky that I have found a number of great

support groups over the years that have been so helpful while we wade through

all of this. I hope you won't mind me listening in and rummaging through the

files to see if I can find any information that may help us find a diagnosis for

our daughter.

Kind Regards,

Diane