could it be

anonymous

New member
dr going to sweat test me because of symp of cf. ? is how likely would it be for my cf babies to have 2 d508mutations if I have 2 mutations and not just one. I know this is odd but I am very confused.
 

irishdavid

New member
If you have two d508 mutations (ie. you have cf) then this doubles the chance of you having a child with cf (assuming that your partner is a carrier) which he/she obviously is).

This is because the child gets one gene from you (which has to be a cf gene if you have cf) and one from your (carrier) partner (which could be a healthy gene or a cf gene)

Basically If you test positive for two genes then all your children will be carriers and any children you have (with another carrier) will have a 50% chance of having cf.

I hope this answers your query. If it doesnt post again and I'll be glad to reply.
 

Emily65Roses

New member
Yeah I just wanted to higlight one part of something David said. If you have two mutations, then you have CF. Do you have CF?
 

irishdavid

New member
<blockquote>Quote<br><hr><i>Originally posted by: <b>Anonymous</b></i><br>dr going to sweat test me because of symp of cf...........<hr></blockquote>

As far as I could gather they have yet to find out
 

Emily65Roses

New member
Hey if you ever want me to explain some of this scientific garbage to you, just ask. <img src="i/expressions/rose.gif" border="0">
 

anonymous

New member
Hi I posted this sorry my ? was. How likely is it for both of my sons to have the same mutations. If I myself have 2 differnt mutation. Short history I have all symp of cf never test cause no fam hist. While I was pregnant w/2nd child pumanoligist I had always seen told me because my first child was cf positive he thought I was misdiagnosied. He wanted to order a sweat test for me and transfer me to a different dr a (Cf dr). I kind of freaked and started seeing another dr. I had to have med assist to even become preganant. Because my children have cf it even worries my more.
 

irishdavid

New member
If you have two different mutations this means that you have to give one of them to your children.

With each child there is a 50/50 chance of giving them each mutation.

So theres is a 50% chance that they would have the same mutations if you have two different ones.

However if your asking this question in order to try to "guess" the likelyhood of you having cf then it is of no help.
If you have two mutations, it doesnt matter wheither they are the same or not, you will still have cf.
If you have only one mutation and one normal gene then your a carrier.

Mind me asking why you asked this?
 

anonymous

New member
Am I the only one wondering why this person is questioning if she has CF, when she knows she has two different mutations and has all the symptoms of CF? Or am I not understanding something here?

If you have two mutations you have CF.

Someone please explain.

Maria (mother of three daughters, the youngest, Samantha w/cf)
 

anonymous

New member
I think there is just some confusion, to someone who knows nothing about CF, they might think you need 8, or 4, or 3 mutations to "have" CF. Yes she sounds confused, but understandably so. I got a little confused too but understand the confusion.

To the initial poster, if you have 2 CF mutations, whether they are the SAME or DIFFERENT (many CFers do have different mutations) you do have CF. I would strongly encourage you to seek proper treatment for your CF, if you address the issues now (even if you have been fairly healthy your entire life) you will have a more productive life for many reasons, such as health and length as well.

Here is the breakdown of CF Probability:
1 carrier parent and 1 carrier parent: 25% chance unaffected, 50% chance unaffected carrier, 25% affected

1 carrier parent and 1 CF parent: 50% chance affected, 50% chance unaffected carrier

1 noncarrier parent and 1 CF parent: 100% chance unaffected carrier

1 noncarrier parent and 1 carrier parent: 50% chance unaffected, 50% cance unaffected carrier
SOURCE: Growing older with CF a handbook for adults, by Solvay Pharmaceuticals

I hope this helps you with a bit of your confusion.

Julie (wife to Mark 24 w/CF)
 

NoDayButToday

New member
I wanted to second what Maria and Julie said. As scary as it is to find out that you have a chronic, life altering illness like CF, it is much more dangerous to run away from the facts, no matter how frightening they are. Treatment will make you feel better and give you a larger chance at a long healthy future.
 

anonymous

New member
If I understand the original poster correctly, she has all the symptoms of cf (severe lung disease, digestive issues, etc) but has NEVER been tested in any fashion (sweat or dna). However, she does have two children with CF,both with 2 copies of DF508. Since we know that the children's father is a carrier of the DF508 and she herself carries at least one copy of the DF508, her question is ASSUMING she DOES have CF and has two DIFFERENT mutations, what is the likelihood that both boys would have the same mutations. She is assuming that they would have different mutations.

To the original poster. First off, may I ask why you're asking this question? Am I incorrect in my assumption that you've never had genetic testing? Have you had a basic panel that showed only one DF508 mutation, hence your question? Or, are you just assuming that you aren't double DF508 since you haven't been diagnosed previously?

Either way, here's your answer. If you do NOT have cf, the genetics that Julie stated would apply. However, if you have CF and have TWO copies of DF508 than each of your children would have 50% chance of having 2 copies of DF508 because each child would ALWAYS receive ONE copy from you and have a 50% chance of receiving no mutations from their carrier father or a 50% chance of receiving a second copy of DF508 from you.

However, IF you have CF but have ONE copy of DF508 and one copy of another gene, then each of your children would have a 50% chance of receiving DF508 from you and a 50% chance from receiving the other mutation (for sake of argument, we'll call it mutation X). The probabilities of genetics for each child would be as follows: 50% chance of receiving a "healthy" gene from father, 50% chance of receiving a DF508 from father, 50% chance of DF508 from you, 50% chance of X from you. THis translates into these probabilities for EACH child
25% chance the child will be a carrier of X mutation ONLY
25% chance the child will be a carrier of DF508 ONLY
25% chance the child will have CF with 2 copies of DF508
25% chance the child will have CF with 1 copy of DF508 and 1 copy of X mutation.

Now, for my personal opinion. Get the sweat test. If it's high normal (high 30s-40) or borderline (40-60), request genetic testing through AMBRY. I would do this regardless of whether you had a genetic test previously and ESPECIALLY if you've NEVER had a genetic test or had a genetic test other than AMBRY. Only AMBRY tests the full DNA strand and is capable of picking up rare mutations. Also, if you've never had ANY CF testing, I wouldn't assume that you couldn't have 2 copies of DF508. I understand that it's scary to find out, but as the previous posters have stated, it's far better to get the treatment you need so you can live as healthy and long of a life as possible. Especially for your children.

Please let us know what you find out. Good luck and God Bless.
 

anonymous

New member
Last poster again, just wanted to reiterate what Irish David stated, there's really NO WAY to determine the probability that you have CF based on your children's genetics. If they had different genes and the same father, then there would be a 50% chance that you had cf (& conversely a 50% chance the father had cf - ONE of you would HAVE to have cf.) Given your medical problems, the probability would be much more highly in your favor that you were the one with cf. Obviously, however, that is NOT the case since both boys have the same mutations. There is really no way for you to determine whether you have cf other than to get tested. Please get tested.
 
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