<div class="FTQUOTE"><begin quote>That's what I am trying to explain to m husband. He is trying to tell me that even without us being carriers Alayna could still be a carrier but not have it. I know how all of this works but he must be confused. This all came up because we are trying to make our xtended family knowledgeble. </end quote></div>
So, If I read this right he's trying to say that Alayna can be a carrier of a GENETIC mutation that neither of you carry. Unless mutations are starting to spontaneously create themselves in people, that isn't at all possible. However... he might have read some stories about ONLY one parent being a carrier of a mutaiton and a child still ending up with CF. This is possible and it's called uniparental disomy, very rare, but possible. It's when the same mutaiton is inherited twice from the same parent. Similar to how downs occurs in utero with the deletion of one chromosome. For some reason, the chromosome (which happens to be carrying the CF mutation- chromosome 7 in the situaition we are talking about) duplicates itself inside the embryo, so the baby will get 2 of the same chromosomes from one parent, when all the other chromosomes are 1 from mom and 1 from dad.
View this link: <a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=9544&highlight_key=y">http://forums.cysticfibrosis.c...d=9544&highlight_key=y</a> 4th post up from the bottom is a post from Steven Keiles, director of genetic services at Ambry genetics. His post might help your husband understand a bit better (also, reading the initial post and subsequent posts might also help.
<div class="FTQUOTE"><begin quote>its not that big of a deal about family members getting tested but i guess when its such a shock when you have no knowledge of this disease that you'd just like to know how many other family members are carring the same gene and try and find out which side of the family it originated from jsut a little bit of medical history just like any other disease that can be passed on. I know the chances of the children being born with CF is 1 and 4 and like with any pregnancy it is a chance you take to have a healthy baby these children are precious angels but to know a lilttle about the disease and the history of it would have been nice instead of during the middle of an ulstrasound and you are 5 months pregnant and they tell you we something wrong and its something that you know nothing about and the genetic counselors make it sound like a death sentence (or at least the one we dealt with). I guess trying to get family members to get tested is not that important but just medical history that can be used for further generations. </end quote></div>
Not sure if the above quoted post is from you Jennifer, because the post was anon. but if it was, just wanted to help clairify one more thing. Just because you, and your husband are carriers, does NOT mean that any of your siblings are carriers. Provided that either your mother or father is a carrier (which at LEAST one of them has to be since you are a carrier, it's possible also for both of them to be carriers) and provided that either your husbands mother or father is a carrier (which at LEAST one of them has to be since he is a carrier, it's possible also for both of them to be carriers), your siblings (for both you and your husband) had a 50% chance of being a carrier (which both of you are) and a 50% chance of not being a carrier. these percentages change if BOTH of your parents were carriers. This page on my website might help illustrate it for your husband also: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismaleinfertility.com/Where_to_begin_carrierTesting.html">http://www.cysticfibrosismalei...in_carrierTesting.html</a> Look specifically at A. for your daughters CF, and look at D. for yourself and your husband (again, provided that ONLY one of each of your parents are carriers, if both of them are carriers, then you would look at A. again.
I see from your post that you know/understand this, but I thought maybe reinterating it might help your husband understand if he were to come here and read the posts. If you are trying to talk to your family about it and they are in denial (like many families are, "there's no family history, it won't happen to us, it must be 100% from your spouses side") then there's only so much you can do to try and educate them before just considering it a lost cause. Some people, at all costs, will deny that anything like this came from "their side of the family" (gasp!!).
My husbands family has NO history of CF or anything that anyone could recall... until they pulled out the old family records stored in a safe somewhere. Turns out a few generations ago (we are talking like 100 years++), there were some young men (and back then, the men were heavily documented, but not so much the women) died at a young age of complications with lungs and malnutrition. Knowing what we know now, it's pretty safe to assume that these men died from CF. But unless we had pulled out those family records, nobody would have known. Also, if nobody had kept family records we never would have known either. And not every family keeps extensive, or even keeps family records.
Hope this helps a bit, it took me quite a long time to understand it all so maybe your husband is just trying to get a logical grip on all of it. Bottom line, his thinking about how this RECESSIVE CF gene is passed, is wholly incorrect. But, maybe directing him to some of these posts might help him figure it out. Good luck!!
So, If I read this right he's trying to say that Alayna can be a carrier of a GENETIC mutation that neither of you carry. Unless mutations are starting to spontaneously create themselves in people, that isn't at all possible. However... he might have read some stories about ONLY one parent being a carrier of a mutaiton and a child still ending up with CF. This is possible and it's called uniparental disomy, very rare, but possible. It's when the same mutaiton is inherited twice from the same parent. Similar to how downs occurs in utero with the deletion of one chromosome. For some reason, the chromosome (which happens to be carrying the CF mutation- chromosome 7 in the situaition we are talking about) duplicates itself inside the embryo, so the baby will get 2 of the same chromosomes from one parent, when all the other chromosomes are 1 from mom and 1 from dad.
View this link: <a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=9544&highlight_key=y">http://forums.cysticfibrosis.c...d=9544&highlight_key=y</a> 4th post up from the bottom is a post from Steven Keiles, director of genetic services at Ambry genetics. His post might help your husband understand a bit better (also, reading the initial post and subsequent posts might also help.
<div class="FTQUOTE"><begin quote>its not that big of a deal about family members getting tested but i guess when its such a shock when you have no knowledge of this disease that you'd just like to know how many other family members are carring the same gene and try and find out which side of the family it originated from jsut a little bit of medical history just like any other disease that can be passed on. I know the chances of the children being born with CF is 1 and 4 and like with any pregnancy it is a chance you take to have a healthy baby these children are precious angels but to know a lilttle about the disease and the history of it would have been nice instead of during the middle of an ulstrasound and you are 5 months pregnant and they tell you we something wrong and its something that you know nothing about and the genetic counselors make it sound like a death sentence (or at least the one we dealt with). I guess trying to get family members to get tested is not that important but just medical history that can be used for further generations. </end quote></div>
Not sure if the above quoted post is from you Jennifer, because the post was anon. but if it was, just wanted to help clairify one more thing. Just because you, and your husband are carriers, does NOT mean that any of your siblings are carriers. Provided that either your mother or father is a carrier (which at LEAST one of them has to be since you are a carrier, it's possible also for both of them to be carriers) and provided that either your husbands mother or father is a carrier (which at LEAST one of them has to be since he is a carrier, it's possible also for both of them to be carriers), your siblings (for both you and your husband) had a 50% chance of being a carrier (which both of you are) and a 50% chance of not being a carrier. these percentages change if BOTH of your parents were carriers. This page on my website might help illustrate it for your husband also: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismaleinfertility.com/Where_to_begin_carrierTesting.html">http://www.cysticfibrosismalei...in_carrierTesting.html</a> Look specifically at A. for your daughters CF, and look at D. for yourself and your husband (again, provided that ONLY one of each of your parents are carriers, if both of them are carriers, then you would look at A. again.
I see from your post that you know/understand this, but I thought maybe reinterating it might help your husband understand if he were to come here and read the posts. If you are trying to talk to your family about it and they are in denial (like many families are, "there's no family history, it won't happen to us, it must be 100% from your spouses side") then there's only so much you can do to try and educate them before just considering it a lost cause. Some people, at all costs, will deny that anything like this came from "their side of the family" (gasp!!).
My husbands family has NO history of CF or anything that anyone could recall... until they pulled out the old family records stored in a safe somewhere. Turns out a few generations ago (we are talking like 100 years++), there were some young men (and back then, the men were heavily documented, but not so much the women) died at a young age of complications with lungs and malnutrition. Knowing what we know now, it's pretty safe to assume that these men died from CF. But unless we had pulled out those family records, nobody would have known. Also, if nobody had kept family records we never would have known either. And not every family keeps extensive, or even keeps family records.
Hope this helps a bit, it took me quite a long time to understand it all so maybe your husband is just trying to get a logical grip on all of it. Bottom line, his thinking about how this RECESSIVE CF gene is passed, is wholly incorrect. But, maybe directing him to some of these posts might help him figure it out. Good luck!!