Gene Carrier Question

[anonymous]

My niece's new born was just confirmed with CF and of course the family is reeling from the news. My niece is my sister's daughter. There has been absolutely no history of CF in our family to anybody's recollection.

I understand that in order for a child to develop CF they must inheirit the defective gene from both parents and that there is a 25% chance that when two carriers conceive, the child will have CF.

I have two healthy children, my older brother has two girls of child bearing years, and we are all wondering if they could potentially be carriers. Is there a test for the gene? OF course, my sister married into another bloodline, so the CF gene might have come from his side. Of course, there is no question that my nieces husband had the gene. Am I wrong about any of this?

Clearly, if our children are carriers, they would want to make informed intelligent choices when it comes time for children on their own.

 

[LLaws]

Yes you can be tested to see if you are a gene carrier and/or do have CF. I do not know what the deal is internationally, but in Australia they offer free testing for all immediate family incl. Uncles, Aunties & cousins etc.
My daughter was born with Meconium Ileus and we had no idea what CF was nor existed. My husbands family all went panic mad and was tested - My mother in law is one of 11 and all but 2 have 4+ children each and there are quite a few 2nd cousins as well. Surprisingly alot of them are carriers but their partners are not. It is easier knowing what CF mutation it is. So check around, ask your GP(regular doctor) if your niece belongs to a CF clinic now they should be able to point you in the right direction.

Mum of Taylor, almost 3 w/CF and another w/CF due in 4 weeks

 

[LLaws]

Just to add a note about your children, I have found that alot of people take the initiative to have themselves tested if CF is in the family butthere are also alot of people I've come across that don't believe in that sort of thing. Best to know if you ask me!! Better than the shock of finding your newborn is not as healthy as you wanted it to be!

 

[anonymous]

Thanks for your prompt reply. I was more than a little afraid that my question, particularly as it related to our children and their future child bearing plans might strike a bad chord.

 

[anonymous]

Something just popped into my head, so let me run it past the experts here. Wouldn't it stand to reason that if my wife and I were tested, along with my brother and his wife, and we were all negative, that there could be NO WAY that our children would be carriers? Correct? Or am I missing something?

This would be much less traumatic than including our kids in testing when they didn't need to be.

Obviously, if we were all carriers, then that's a horse of another color.

 

[anonymous]

My 2 stepdaughters were just diagnosed with CF. One has CF and one is a Carrier. They have different fathers and I am concerned and confussed. There is also a brother of the carrier with the same parents. I have a 9 year old son with the same father of the Carrier and the brother. I am scared that he too may have CF or not really sure if he could have this. There are no CF accounts in my family background. Since finding out this morning of the stepdaughters I have done some research but still am confussed.

 

[shamrock]

If you or your wife are NOT carriers then it is impossible that your kids are either carriers or suffer from cf. You and your wife are the ones who make up the dna of your child so therefore yes there is no way that they could be effected if you're both negative. Im pretty sure<img src="i/expressions/rose.gif" border="0">

 

[Emily65Roses]

Shamrock (65Rosies!) is right... However, the CF gene tests only test for so many of the CF genes. So even though you tested negative, there is still a chance that you could have some rare mutated CF gene. You and your wife both could. In that case, it's possible. But that's only if both genes you have were rare enough to go undetected.

But in the case that neither of you has ANY of the CF genes, Shamrock is correct. Your child could not be affected if neither of you carry any CF genes. <img src="i/expressions/rose.gif" border="0">

 

[Emily65Roses]

Oh and PS-- Whether or not there's any family history of CF is pretty irrelevant. Allow me to rephrase: If there is a history, that's important. However, if there's no history, that doesn't mean much of anything. I was the very first CFer in my family (and my extended family is pretty large). As of right now, I'm not just the first CFer in my family, but still the only. A lot of the CFers I've talked to have been the first and/or only CFers in their families too. It's quite common for that to happen. It has to start somewhere, I guess.

 

[anonymous]

You're right Emily it does have to start somewhere, and I know we are blessed with our beautiful Taylor, and we were given her for a reason. At first it did bother me that it was Taylor out of such a large family but now I know we can provide the quality of life for her and that is what's important.

 

[anonymous]

To the very first poster,

From what you have written it sounds like you have one brother and one sister. (please correct me if I'm wrong)Your sister's daughter has CF. Everything you wrote in the first post is correct. You really know your genetics.

Before anyone gets further testing to see if they are carriers, you should find out in writing exactly which two gene defects your niece carries. Your sister should have received some paperwork telling her this information. If and when you get carrier testing you should have the two genes identified. The labs that receive your bloodwork will look for those specific genes. Depending on the genes, your bloodwork may be sent to a specific lab. For example, Ambrey Genetics is the most all inclusive lab for CF gene testing. It can identify over 1000 mutations. Some labs only identify the 15-20 most common, or the top 80-100. Good Luck!

And like Emily said, whether or not CF has reared its unpleasant head before is not really relevant, some families carry it for generations before someone actually has it. Some families do have a history of asthma and sinus, which could be significant, because some carriers are asthmatic or suffer from chronic sinus.

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

 

[anonymous]

To the very first poster,

From what you have written it sounds like you have one brother and one sister. (please correct me if I'm wrong)Your sister's daughter has CF. Everything you wrote in the first post is correct. You really know your genetics.

Before anyone gets further testing to see if they are carriers, you should find out in writing exactly which two gene defects your niece carries. Your sister should have received some paperwork telling her this information. If and when you get carrier testing you should have the two genes identified. The labs that receive your bloodwork will look for those specific genes. Depending on the genes, your bloodwork may be sent to a specific lab. For example, Ambrey Genetics is the most all inclusive lab for CF gene testing. It can identify over 1000 mutations. Some labs only identify the 15-20 most common, or the top 80-100. Good Luck!

And like Emily said, whether or not CF has reared its unpleasant head before is not really relevant, some families carry it for generations before someone actually has it. Some families do have a history of asthma and sinus, which could be significant, because some carriers are asthmatic or suffer from chronic sinus.

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

 

[anonymous]

Sorry - posted twice. Has anyone else noticed this site is moving much slower? I see that they are adding and reformatting, maybe that's why?



Maria (mother of Sami)

 

[Emily65Roses]

Maria, I have no idea, but that could very well be why.

 

[shamrock]

Yeah the chats been acting slower as well

 

[anonymous]

Maria
I am the first poster, so thank you for your kind words. Also thanks to Emily. You guys are so strong, what an inspiration. I decided to gather as much knowledge at about CF, before I started posting, so I wouldn't look like the typical newbie.

Re: what I said about no prior history in our family, my mother and father reminded me that my great Grandmother lost 6 children in infancy. This lady would be the great-great-great Grandmother of the newly diagnosed baby. This all occurred around the turn of the century. so of course there was no medically known cause of death. The babies all died between the ages of new-born and 3 years.

Who knows?

Thanks for the lab reccomendation, we are shopping around for genetic counselors right now.

 

[anonymous]

To the initial poster, my husband's family had the same "no family history" of CF. But after he was diagnosed in 1982, the whole family did some research and found that some generations back quite a few of the family members passed at an early age, for unknown causes and complications and suffered from an array of things such as sinus problems, malnutrition and other common CF symptoms that weren't even recognized "back then". I applaud you for wanting to be proactive with your family.

If you have a good insurance company, the should cover the genetic testing (I am not sure about a genetic counselor but I just haven't had firsthand experience with them). I am sure this is a given but if they are making it trouble to cover the tests for yourself and your husband, I would definetly keep track of some of the family history of CF and include some of your nieces' diagnosis information.

Good luck with this process and please let us know how things go. I am considering using ambry to do genetic testing on myself as my husband (who has CF) and I are going to be going through IVF with ICSI this October and I want to make sure I am not a carrier. If you find any other testing options (companies) out there, please post it somewhere on this site.

Julie (wife to Mar 24 w/CF)