Re: A Vent/ mutations, genes, etc.

[Guest guest]

I think that one of the rare ish origin genes, which is

a " stop " mutation, is R4553X, for what that was worth; I

find now that I cannot search a complete table of all mutations as they table is

now so huge and they are still

sorting out the meanings and origins of each.

n Rojas

Rojas5915@...

A Vent

My son w/CF is adopted as many of you know. We have an open

adoption arrangement with his birthmother so I have been very

forthcoming about his medical issues and have suggested strongly that

she have her two sons tested (one is oler and another younger than my

son but both live with her). One of the sisters has many of the

symptoms but refused to be tested because she is " well " most of the

time. Neither half brothers to my son have any strong indicators they

have CF but then again neither did my son until he had reoccurring

nasal polyps. His bgrandmother insists there hasn't been any CF in

the family until I mentioned my DS has a rare gene mutation found

primarily of those with ish descent. The bell went off and she

forgot that her ex husband who fathered all of her children was of

ish descent.

Anyhow the bmother wanted the information on the Ambry test because

the boy's pediatrician have never heard of the test. I sent the

website link off several days ago and she called me last night. She

decided that she was not going to her either child tested because

they are so well and that they don't want the possibility of a

preexisting condition to be on their medical records. Perhaps when

they are of age to be married they would have the test and genetic

counseling but not at the moment. So if my pediatrician felt it was

important to my son's health I could have him contact her

pediatrician and they can " duke " out. Huh??? She seemed to think it

was a matter of finger pointing. I told her it wasn't a matter of

finger pointing because it wasn't a question of IF she had a CF

mutation it was a question WHICH one it was and that she is a carrier

and that her other children may be carriers as well. It doesn't make

any difference to my son but she might find it important to know for

the other boys.

To me it is a win win situation. If the boys have been well all

this time- they may only show as carriers. If they do have CF it

benefits them to know now and not later when they are sick. Am I

looking at this the wrong way? What purpose does it serve to NOT do

the testing? I am totally baffled why she is resistant to having the

test done. I swear she thinks it is a " stain " on her family

personally if they are found to be a carrier. Has anyone else found

having CF makes the child and family as tainted? Talk about

discriminating against your own children!

Sorry all - this just annoyed me to no end. Add that to the fact

when I went to sign my son up for traveling football this year they

asked about medical conditions. This was the first year I knew enough

to have to put down cystic fibrosis. He was just diagnosed this

spring at age 7.

jan

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[Guest guest]

> I think that one of the rare ish origin genes, which is

> a " stop " mutation, is R4553X, for what that was worth

No he has P67L.

jan