Some Gene and Other Questions

[Guest guest]

My husband Jim has late onset CMT, type 1, his doctor says. He was about 60

with the first symptoms. At 76 he has trouble walking because of extreme foot

drop and muscle loss, and pain, depression, insomnia. He had the blood test.

All genes were negative except the PMP-22 [i think duplication] was

inconclusive; when they rested another blood sample, that gene was also

negative.

He has three sons by two wives. His first son is 49. I have seen him barefoot,

and he has THE FEET: extremely high arch and hammer toes. He has no symptoms.

He probably won't have any more children. His second son is 42 and his feet

look normal. He wants more children. His third son, 23, [mine] has normal

looking feet, but he has pectus excavatum, slight scoliosis, and when

he walks his left toes turn in slightly. He is recently married and they

definitely want children, maybe soon.

Now the questions:

1) Is there any point in the 49 year old knowing when he doesn't want more

children?

2) What are the odds the youngest son's gene showing up even though his father's

didn't? Can he get the gene test without going on his medical record if we're

willing to pay for it? He would do in vitro with pre-implantation diagnosis if

he could.

3) What are the odds that the PMP-22 gene that was inconclusive in my

husband's first test and negative in the second is the gene that causes his

problem or that it's some undiscovered gene? Isn't this late onset rare for

that gene?

Thanks in advance. Gretchen, this group is great. I'm the one who

reads the posts every day rather than my husband, and I really appreciate

everything you do.

Elinor