Re: Questions questions and update.

[Guest guest]

Jen A.

Both of my sons have cf. They both have the same mutations, but they both

carry two, which are F508 & N1303K. I don't know anything at all about this,

but I always thought one from me and one from my hubby. Wrong?

Vondie

mom of & both w/cf

Re: Questions questions and update.

In a message dated 11/5/2002 4:29:42 PM Central Standard Time,

cfkids2@... writes:

> Genetics question. I racking my brain trying to figure out how we got so

> " lucky " with three cfer's. If my husband or I had cf(neither one of us

> shows any signs) it would be a 50/50 chance as long as the other was a

> carrier, correct? So would that mean that there are 2 different gene

> sequences(don't know if I'm wording this correct) that could happen? Or

> would it be the same two each time? I've been debating on us getting

> tested

> just to try and figure out what is going on, but if he was tested and it

> was

> positive we'd be out of insurance and he'd have no job. Gotta love the

> military.

Jen A

I have two girls with CF and when they drew blood from my oldest so they

could test to see what kind of mutation she had (because they wanted to know

what they were dealing with) I said are you going to draw blood from my

youngest one to and they said No only unless she has a different father their

mutations would be the same. So they way I understand you can only each have

one mutation of CF because they told me that there mutations would be the

same because it came from each of us. Hope this helps. Deb A

[Guest guest]

Jen,

Yes, if you or your husband have two mutations, and the other has

only one mutation, then there is a 50/50 chance the child will have

cf. If you BOTH carry two mutations, then there's a 100% chance the

child will have cf. The mutations of the children are one from you

and one from your husband, so any combination thereof could result.

If you think that you or your husband may carry two mutations and

don't want to get tested yourselves, there is a way around. Have the

children's (all of them) mutations discovered through genetic

testing. If more than two mutations come up, you know one of you

carries more than one copy of the cf gene. This isn't foolproof, but

it might give a clue. The dna testing can be done by blood draw or

by taking a swab inside the cheek. Maybe it could be done during

routine blood draws so that it's not an extra needle stick for the

kids?

Good luck figuring it out.

~

>

> Genetics question. I racking my brain trying to figure out how we

got so

> " lucky " with three cfer's. If my husband or I had cf(neither one

of us

> shows any signs) it would be a 50/50 chance as long as the other

was a

> carrier, correct? So would that mean that there are 2 different

gene

> sequences(don't know if I'm wording this correct) that could

happen? Or

> would it be the same two each time? I've been debating on us

getting tested

> just to try and figure out what is going on, but if he was tested

and it was

> positive we'd be out of insurance and he'd have no job. Gotta love

the

> military.

> Jen A. mom to 4, Yolo 2 1/2 and Phynix 6 months all w/cf.

>

[Guest guest]

Jen,

Yes, if you or your husband have two mutations, and the other has

only one mutation, then there is a 50/50 chance the child will have

cf. If you BOTH carry two mutations, then there's a 100% chance the

child will have cf. The mutations of the children are one from you

and one from your husband, so any combination thereof could result.

If you think that you or your husband may carry two mutations and

don't want to get tested yourselves, there is a way around. Have the

children's (all of them) mutations discovered through genetic

testing. If more than two mutations come up, you know one of you

carries more than one copy of the cf gene. This isn't foolproof, but

it might give a clue. The dna testing can be done by blood draw or

by taking a swab inside the cheek. Maybe it could be done during

routine blood draws so that it's not an extra needle stick for the

kids?

Good luck figuring it out.

~

>

> Genetics question. I racking my brain trying to figure out how we

got so

> " lucky " with three cfer's. If my husband or I had cf(neither one

of us

> shows any signs) it would be a 50/50 chance as long as the other

was a

> carrier, correct? So would that mean that there are 2 different

gene

> sequences(don't know if I'm wording this correct) that could

happen? Or

> would it be the same two each time? I've been debating on us

getting tested

> just to try and figure out what is going on, but if he was tested

and it was

> positive we'd be out of insurance and he'd have no job. Gotta love

the

> military.

> Jen A. mom to 4, Yolo 2 1/2 and Phynix 6 months all w/cf.

>

[Guest guest]

Here's how to SEE it. (I taught biology for a year -- I'm really a

physics teacher of 7yrs -- and genetics is a hobby).

It's called a punett square:

Make a grid 2x2 box. Outside the box on the top above the first

column write C and the second column c (notice capitalization

matters, this represents the father who is a carrier of cf). And on

the side by the first row write C and the second c (this represents

the mother who is a carrier of cf). Inside each box write the

combination. In the first box you'll have CC the next over is Cc. In

the second row you'll find you have Cc and next to it the cc. C =

normal cftr gene, c = mutated problematic cftr gene.

The CC means the child is absolutely normal and doesn't even carry

the cf mutation. The Cc means a carrier and the cc means the child HAS

cf. This shows the probability with each child. You have a 1 in 4

chance of the child not even being a carrier. There's a 2 in 4 chance

of the child being a carrier. And a 1 in 4 chance of the child having

CF. These are the same chances EACH child has. This is a

representation of how your genes mix each time you make a child with

the same spouse. This is why if a child of a couple has cf and a

sibling of the same couple have cf they'll have the exact same

mutations.

Hope I've helped.

Crystal

mom to Adam (homozygous f508) 8mo, and le 3 this month nocf.

(I'm leaving it to le when she's older to be tested as a

carrier.)

> >

>

> > Genetics question. I racking my brain trying to figure out how

we

> got so

> > " lucky " with three cfer's. If my husband or I had cf(neither one

> of us

> > shows any signs) it would be a 50/50 chance as long as the other

> was a

> > carrier, correct? So would that mean that there are 2 different

> gene

> > sequences(don't know if I'm wording this correct) that could

> happen? Or

> > would it be the same two each time? I've been debating on us

> getting tested

> > just to try and figure out what is going on, but if he was tested

> and it was

> > positive we'd be out of insurance and he'd have no job. Gotta

love

> the

> > military.

> > Jen A. mom to 4, Yolo 2 1/2 and Phynix 6 months all w/cf.

> >

[Guest guest]

My husband is Air Force. If he's a carrier nothing would happen. If he has

it they will give him an honorable medical discharge. Why? I don't

understand. I think it's the same thing as AIDS, death is

inevitable(DAUUUUU we're all going to die). Other than that I'm clueless on

this, lol. Do you guys have an EFMP? We got coded so that we can't move

out of the states. Does the Navy have the same thing? Just curious.

Jen, mom to ALex 4, Yolo 2 1/2, and Phynix 6months. all w/cf.

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[Guest guest]

My husband is Air Force. If he's a carrier nothing would happen. If he has

it they will give him an honorable medical discharge. Why? I don't

understand. I think it's the same thing as AIDS, death is

inevitable(DAUUUUU we're all going to die). Other than that I'm clueless on

this, lol. Do you guys have an EFMP? We got coded so that we can't move

out of the states. Does the Navy have the same thing? Just curious.

Jen, mom to ALex 4, Yolo 2 1/2, and Phynix 6months. all w/cf.

_________________________________________________________________

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[Guest guest]

I've more heard about the brain cysts being related to Down

syndrome. My daughter has both DS and CF. The echogenic bowels can

be a sign of either (or both in 's case). I know of one mom

who's baby had Choroid Plexus cysts and echogenic bowels and her

daughter has Downs (no cf). Have they had the AFP test done?

Georgianna

>

>

> Hey got a couple questions. I've been talking to a lady who is

preg and due

> around the same time I am. She had a lvl 2 U/S done and they found

a cyst

> on the babies brain. The doc said that can be a marker for CF. I

have

> never heard of this and was wondering if anyone had any info on it

that I

> could share with her. They also saw that the baby's bowels were

shadded.

> PJ had the same thing at this stage also.

>

> Genetics question. I racking my brain trying to figure out how we

got so

> " lucky " with three cfer's. If my husband or I had cf(neither one

of us

> shows any signs) it would be a 50/50 chance as long as the other

was a

> carrier, correct? So would that mean that there are 2 different

gene

> sequences(don't know if I'm wording this correct) that could

happen? Or

> would it be the same two each time? I've been debating on us

getting tested

> just to try and figure out what is going on, but if he was tested

and it was

> positive we'd be out of insurance and he'd have no job. Gotta love

the

> military.

>

> So far we are all doing good. PJ seems to be coughing a bit more

but

> doesn't seem to be getting sick. HOPEFULLY we'll have kicked this

stupid PA

> the first time around. Yolo is getting ready for her 3rd birthday

on the

> 16th. We're still having some behavior problems with her, so

hopefully I

> can get her evaled. is ding great. She's LOVES preschool and

is

> talking up a storm now. It is so weird having a 4 year old that

talks to

> you and carrys on some type of conversation. So far this preg is

going.

> Everything looks right on track and I go in for one of many lvl 2

u/s's

> soon. TJ is going to school now for the Air Force for another

stripe. SO

> his grandmother is comming down, she's an awsome lady. Kinda how I

picture

> Grandma Bev to be. Other than that we're doing great.

>

> Jen A. mom to 4, Yolo 2 1/2 and Phynix 6 months all w/cf.

>

>

>

> _________________________________________________________________

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