Re: Some gene and other questions

[Guest guest]

Hi Elinor,

OK, I am not a medical person, and it is probably best if you talk

directly to a geneticist.

Yes, it is somewhat unusual CMT 1 would be diagnosed at age 60. Were

other diagnoses made before CMT?

As for the 49 year old son not wanting to know, and not wanting more

children, there seems no point, except perhaps to watch for his own

health.

I don't know the odds of the younger son's genes turning up with CMT,

however, it is very posibly. In some cases, second generation CMT can

become evident earlier and more severe. Talk directly to your doctor

and the lab about getting the DNA test - if it is not going on

insurance, and you are paying upfront, I see no reason why this can't

be kept 'confidential' in his medical record with the doctor, such as

the HIV test is - a doc cannot release the results to anyone! If this

son wants children, and wants to make certain he either does not have

CMT nor is a carrier, the DNA test is the way to go. From there he

will have the results he needs to proceed with PGD. (I am assuming

this son wishes children to be CMT free)

Back to your husband and his tests and the odds. I can't give odds,

but this is why I asked if other diagnoses had been made first - what

did your husband's EMG/NCV report show? And yes, new genes are being

discovered all the time, so this could be a new one, or a new

mutation of one already established.

Are you working with a genetic counselor familiar with CMT and

hereditary neuropathies?

~ Gretchen

[Guest guest]

We don't have a genetics counselor. Do you know a good one familiar

with CMT in Southern Calif or mid Calif or anywhere driveable? My son

who wants kids and is 23 lives in Portland, OR, so someone there might

be better even.

Elinor