many questions.....first appointment soon

[Guest guest]

My son (age 17) has his first appointment with a neuromuscular

specialist at the end of February. This will be his (our) first

appointment since he was diagnosed by Athena.

Can anyone tell me what to expect? Any specific questions I should

ask? Anything additional I should bring besides the test results we

have so far? My sister tested within one day from my son and her

results the same, should I bring a copy of her results with us? Will

any additional test be performed?

He has had the following tests done: EMG and Nerve conduction study -

results severe sensorimotor peripherial polyneuropathy of axonal type

1. (no clue what that means) Blood tests - everything imaginable

from CBC to Lyme. Through Athena - Sensorimotor neuropathy profile

complete, complete CMT evaluation and Familial DNA sequencing

evaluation. Results - some type of CMT that cannot be specified due

to a new mutation not seen before on the MPZ gene.

Does anyone know if there will be issues with treatment since we don't

have an exact type? Any info/thoughts/suggestions appreciated.

Thanks!

Carmella