My husband and I are both carriers of CF and want to have another child. We are trying to decide between pgd and natural. I would love to hear any experiences with couples that have used pgd and what their experience was. I carry delta 508 and my husband carries R117H 7T 7T. According to the studies I have read there is a huge chance the child would not even have clinical CF if positive. I wonder if the risks of one outweigh the other? This is the hardest decision we have faced and really need to hear from some individuals who have experienced the same. Thanks!
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PGD
- Thread starter anonymous
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thefrogprincess
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Here's the break down:
If you have another child naturally there is a 25% chance the baby would have CF, 50% chance the baby would be a carrier, and 25% chance the baby would not be a carrier OR have CF.
If you have another child naturally there is a 25% chance the baby would have CF, 50% chance the baby would be a carrier, and 25% chance the baby would not be a carrier OR have CF.
My wife and I were well onto the IVF/ICSI/PGD road before learning that PGD is not completely accurate. We were told there was a 5-10% error (fallout rate?). They assured us that a CVS procedure (or an amiocystesis?) could "catch" the cf later in the cycle and we could act then. Unimaginable to us was learning of cf at 12+ weeks in the pregnancy and the thought of terminating the pregnancy? forget it. Wasn't worth the risk for me. We're pursuing IUI - I'd rather not take the chance of having a child with cf. Even if that chance is small.
I'm curious to hear what you learn/decide!
Jason 30 w/cf
I'm curious to hear what you learn/decide!
Jason 30 w/cf
IUI stands for intra uterine insemination and I can only imagine that Jason and his wife would be using it with PGD (I hope) otherwise using IUI with CF will not diagnose the embryo or allow you the option to prevent a having a child with CF.
AS with anything in life nothing is 100% guaranteed, but you are going to be signifigantly safer with doing PGD than not doing PGD.
<a target=new class=ftalternatingbarlinklarge href="http://www.ivf.com/-">http://www.ivf.com/-</a> This is a great website, I recommend (as I have done) that you register as user. They don't disclose any of your information but registering allows you to email the doctors with questions. My husband and I are going through IVF with ICSI (he has CF and no vas deferens) in October and I was unable to find ANY men with CF who had successfully had the procedure done. I, just as you do, wanted to talk to some couples who have been in your situation-especially before we shell out about $10,000 for the procedure. The doctor answered some of my questions and told me they did have some male patients with CF and he was going to see if anybody would be willing to contact us. I got two phone calls two weeks later. The people who contacted me via phone now communicate with me almost weekly via email. They shared their story with me, the procedures, emotional rollecoaster, costs, what they would do differently next time... and it has been a wonderful experience. I don't know if anybody on this CF site has done pgd yet so you may not get too many personal responses but you can always try that website.
Best of luck.
Julie
AS with anything in life nothing is 100% guaranteed, but you are going to be signifigantly safer with doing PGD than not doing PGD.
<a target=new class=ftalternatingbarlinklarge href="http://www.ivf.com/-">http://www.ivf.com/-</a> This is a great website, I recommend (as I have done) that you register as user. They don't disclose any of your information but registering allows you to email the doctors with questions. My husband and I are going through IVF with ICSI (he has CF and no vas deferens) in October and I was unable to find ANY men with CF who had successfully had the procedure done. I, just as you do, wanted to talk to some couples who have been in your situation-especially before we shell out about $10,000 for the procedure. The doctor answered some of my questions and told me they did have some male patients with CF and he was going to see if anybody would be willing to contact us. I got two phone calls two weeks later. The people who contacted me via phone now communicate with me almost weekly via email. They shared their story with me, the procedures, emotional rollecoaster, costs, what they would do differently next time... and it has been a wonderful experience. I don't know if anybody on this CF site has done pgd yet so you may not get too many personal responses but you can always try that website.
Best of luck.
Julie
Intra uterine insemination is also called artificial insemination. It would only be helpful in preventing genetic disorders if you use a sperm donor that is not a carrier. Not sure if you're open to that. It took me lots of thought to be open to it b/c naturally I would prefer our child to be <i>ours</i> biologically - but not at the risk of having cf. Of course our chances of having a child with cf are double what yours are (two carriers have a 25% chance, a cf'er and a carrier have 50% chance) so maybe it's a risk you'd take . . .
FYI - IVF/ISCI/PDG was looking to be in the $20,000 range for one try! IUI costs ~$500. Pros and cons to each . . .
Keep me posted!
Jason 30 w/cf
FYI - IVF/ISCI/PDG was looking to be in the $20,000 range for one try! IUI costs ~$500. Pros and cons to each . . .
Keep me posted!
Jason 30 w/cf
Jason, just a question for you. Would you and your wife be willing to share your experience? I am putting together a website for men with CF and absense of the vas defrens and would like to make all different treatment options known. So far I have our personal experience with IVF/ICSI and MESA sperm retrieval method and I have 2 other couples who have children born via this method who are writing up a page or so of their experience, treatments, procedures, ups and downs... I would love to include information on IUI and make known that a sperm donor is an option. If you would be willing that would be wonderful. I can omitt names, include them whatever you like. If you guys are interested, please let me know. You can email me at division902@hotmail.com (jsut put CF or something in the title).
Julie
Julie
Hi Jason, about insemination - I know the chances are low but I would worry that the donor would be a carrier of an unidentified gene (so he would not show up as a carrier at all). My husband and I are both carriers and one of us is unidentified which means that we would not show up as a carrier...since the tests just check for the most common 80 or so mutations. so my thinking is that if odds are against us again, there is a chance that if we did insemination that I could have another child wcf... am I right?? Ugh, it is all SO CONFUSING!
Both myself and my husband also carry the same gentic mutations. I went trhough fertility and had an IUI and even went through genetic counceling that ASSURED us that with these mutations, (like you have read) there would be a presentation of very little CF - in fact prior to the newborn screens 5 years ago, they may never have figures it WAS CF. We have a beautiful 1 year old, and through the newborn screen found out at 5 days old she did get both our genes. We have gone to a CF dr. and he felt - no problem....until about 3 weeks ago, the week of her 1st B-Day. She ended up with lower lobe pneumonia - still the CF dr felt it was not CF related, but did a routine throat culture. Well low and behold, she tested positive fot pseudominis A. She is now on TOBI and just finished cipro. He still has no idea what is in store for us. Honestly, you would never know she was "sick" - no cough, plays, no junk in her lungs to cough up, but she is. They have her in a study because these gentic mutations have stumped the medical world. Some kids get very, very sick and others are in the middle and others are perfectly "healthy". But they all have the same mutation. Just a thought. We are torn also about having another child.
To the last poster, Moni, would you mind saying what mutation your daughter has? We just returned from a visit with a CF specialist who told us that our daughter (due in Sept) will have such a mild form of CF that it isn't even comparable to the classic CF symptoms. He advised us to be especially careful with her being in contact with sick people for the first year of her life, but assuming her health is as good as he expects, she will not have any pancreatic insufficiency and will likely never develop lung disease.
Your doctor's earlier diagnosis sounds very similar to what we've heard, and I'm very afraid of not being aggresive enough with our daughter's care. If she doesn't present any symptoms, wonderful, but I don't want to find years down the road that if there is lung disease, we could have slowed the progression by physical therapy, etc.
Thank you, and I hope your daughter remains very healthy.
-- Jenica
Your doctor's earlier diagnosis sounds very similar to what we've heard, and I'm very afraid of not being aggresive enough with our daughter's care. If she doesn't present any symptoms, wonderful, but I don't want to find years down the road that if there is lung disease, we could have slowed the progression by physical therapy, etc.
Thank you, and I hope your daughter remains very healthy.
-- Jenica
May 14, 6:45 poster,
Hi Jason, about insemination - I know the chances are low but I would worry that the donor would be a carrier of an unidentified gene (so he would not show up as a carrier at all). My husband and I are both carriers and one of us is unidentified which means that we would not show up as a carrier...since the tests just check for the most common 80 or so mutations. so my thinking is that if odds are against us again, there is a chance that if we did insemination that I could have another child wcf... am I right?? Ugh, it is all SO CONFUSING!
I am a bit confused by the statement "my husband and I are both carriers and one of us is UNIDENTIFIED WHICH MEANS WE WOULD NOT SHOW UP AS A CARRIER", in caps is the portion I dont understand. Do you have a child already who has CF? I take it you have both had carrier tests for one reason or another, correct? Have you ever heard of AMBRY GENETICS? Ambry Genetics is a company that tests the entire CF mutation on chromosome 7 and analyzes the over 1200 known mutations. Although there is not a 100% guarantee (because they are finding new mutations all the time) their test is 96-98% accuatate in determining CF and CF carrier status. You could consider using them if you did use a donor. Just a thought. For me personally, if I were in your shoes I would have myself and my spouse tested by AMBRY, hopefully they can identify the "unknown" mutation and then you can proceed with PGD using your own eggs and sperm (if biological is something that is important to you). With the docs who are doing the PGD knowing what mutations are looking for, they can provide you with the most accurate information.
Best of luck whatever you choose to do,
Julie (wife to Mark 24 w/CF)
Hi Jason, about insemination - I know the chances are low but I would worry that the donor would be a carrier of an unidentified gene (so he would not show up as a carrier at all). My husband and I are both carriers and one of us is unidentified which means that we would not show up as a carrier...since the tests just check for the most common 80 or so mutations. so my thinking is that if odds are against us again, there is a chance that if we did insemination that I could have another child wcf... am I right?? Ugh, it is all SO CONFUSING!
I am a bit confused by the statement "my husband and I are both carriers and one of us is UNIDENTIFIED WHICH MEANS WE WOULD NOT SHOW UP AS A CARRIER", in caps is the portion I dont understand. Do you have a child already who has CF? I take it you have both had carrier tests for one reason or another, correct? Have you ever heard of AMBRY GENETICS? Ambry Genetics is a company that tests the entire CF mutation on chromosome 7 and analyzes the over 1200 known mutations. Although there is not a 100% guarantee (because they are finding new mutations all the time) their test is 96-98% accuatate in determining CF and CF carrier status. You could consider using them if you did use a donor. Just a thought. For me personally, if I were in your shoes I would have myself and my spouse tested by AMBRY, hopefully they can identify the "unknown" mutation and then you can proceed with PGD using your own eggs and sperm (if biological is something that is important to you). With the docs who are doing the PGD knowing what mutations are looking for, they can provide you with the most accurate information.
Best of luck whatever you choose to do,
Julie (wife to Mark 24 w/CF)
If you do not mind me asking- do you and your husband have delta f508 and R117H 7T/7T? I know some have the 5T variant which brings some different symptoms. It is so hard. I wish there was an exact prognosis for each gene combination but I guess there is not. Thank you for sharing. It is helpful to hear from someone with the same genes. I hope that your daughter is feeling better. Thank you.
To the poster who asked me the mutation question. Abby has the delta 508 and R117H and whatever the next number is was the mildest. I will find out for you. She did have the test for the pancreatic insuff. and that just came back a week and a half ago very normal. It is very frustrating. Abby wasn't even near anyone sick and we didn't even know she had the pneumonia - her lungs were always clear. I was told that CF kids can get the pseudominis from "rotten things around the house...things you cannot control...) inside drain pipes, rotten onions, musty leaves. Feel free to email me if you have any questions or just need to talk.... mzicuis@hotmail.com.
Moni, did your doctor tell you that CF kids get pseudomonas from drain pipes, rotton onions....Was this also the same doctor that told you your daughter will not be symptomatic or have problems? If so, I would STRONGLY recommend that you seek a new doctor, regardless of his stature as a CF doctor. He ovbiously doesn't know his stuff very well. i understand that there are all sorts of new mutations coming out and many things that are still so very unknown about them and nobody is ever going to know everything-BUT the doctor should not have been so sure of his own opinion and taken precautions (recommending you do chest PT as a precaution, testing your child every few months to ensure there was no growth...). Believe me, the fact that your child, who does have CF, ended up with Pseudomonas is NOT in any way a reflection on you. It is just something that is inevidable in the life of a CFer. Some culture it early in life, some not until later but you would be very hard pressed to find a CFer with lung involvement who does not culture pseudomonas.
a child/person with Cf could get pseudomonas from a variety of locations and people, don't blame yourselves for her culturing it. Now all you really need to worry about is making sure she gets the proper treatments and medications.
Take care,
Julie (wife to Mark 24 w/CF)
a child/person with Cf could get pseudomonas from a variety of locations and people, don't blame yourselves for her culturing it. Now all you really need to worry about is making sure she gets the proper treatments and medications.
Take care,
Julie (wife to Mark 24 w/CF)
Hi Julie, I am the previous poster to Jason...maybe I am incorrect with my information, you really seem to know a lot more about this than I do! My daughter has CF and when they checked her genes out last summer, we were told that she has a DF508 and an unknown mutation. Her workup was done through Ambry and we were told that if we really wanted to find out what the unknown mutation was, that we could try again in a few years to see if it had been named by then...Does that sound right to you?? Anyway, we were told that this mutation wouldn't have shown up in the tests that OB's use to check for this stuff bc they only check for the most common 80 or so...
I really have no idea how the donor thing works since we haven't looked into it at all (a friend who works in a OBGYN office told us a little about it and that is all we know). And I obviously don't know a whole lot about the genetic tests and stuff!
I really have no idea how the donor thing works since we haven't looked into it at all (a friend who works in a OBGYN office told us a little about it and that is all we know). And I obviously don't know a whole lot about the genetic tests and stuff!
As far as the unknown mutation goes, I wish I had more information or could comment but I can't. The only thing I can really gather from what you wrote and what you said AMBRY told you is that there is a mutation that has been identified as a CF mutation-it certainly isn't very common. To date, this mutation is so new that it has not been named like Delta F508 or some others have. And the only reason why your daughter was diagnosed is that they found 1 known mutation and did a sweat test on her which was positive, so by process of elimination they have concluded she does have CF and she has 1 identified mutation and 1 unidentified mutation. Is that correct so far or am I adding some stuff? I guess the one thing (reading back over what I just wrote) that is a bit confusing is this: Has ambry been able to identify 1 of her mutations? If so what is it? Also, about this "unknown" mutation, did your daughter have a sweat test and that is how you found out she had CF? Then you did the genetics test and ambry told you what I wrote above? I guess I just can't figure out how they would say she has an unknown mutation unless they did a sweat test on her and it was positive.
PGD could be a good possibility if the were able to identify both of the CF genes you and your spouse carry. I can't decipher from your post if that is the case and AMBRY just hasn't been able to name one of them but they could identify it if they saw it again, or if they aren't to the point of identifying it yet. I can provide you with some links on PGD if you are interested in some further information about it. It is costly and most insurance companies don't cover it or the IVF that must be used along with it.
About donor stuff, using sperm donation is signifigantly cheaper than using egg donation for the simple reason that the sperm is about a 10 minute process into a cup, looked at for motility, form, normal growth... and then usually cryo preserved. Egg donation requires the woman to be stimulated with medications for 2+ weeks (sometiems longer) then the eggs (usually 15-30) are retrieved from her body in a somewhat surgical procedure and then usually cryo preserved but sometimes used for a "fresh" transfer. I have seen donor sperm fees in the $200-500 range and donor eggs in the $1500-3500 range.
Let me know if you have any more questions, I hope I didn't confuse you in the first paragraph because I kind of confused myself!
Julie (wife to mark 24 w/CF) division902@hotmail.com-you can email me if you have more questions or you can just post here
PGD could be a good possibility if the were able to identify both of the CF genes you and your spouse carry. I can't decipher from your post if that is the case and AMBRY just hasn't been able to name one of them but they could identify it if they saw it again, or if they aren't to the point of identifying it yet. I can provide you with some links on PGD if you are interested in some further information about it. It is costly and most insurance companies don't cover it or the IVF that must be used along with it.
About donor stuff, using sperm donation is signifigantly cheaper than using egg donation for the simple reason that the sperm is about a 10 minute process into a cup, looked at for motility, form, normal growth... and then usually cryo preserved. Egg donation requires the woman to be stimulated with medications for 2+ weeks (sometiems longer) then the eggs (usually 15-30) are retrieved from her body in a somewhat surgical procedure and then usually cryo preserved but sometimes used for a "fresh" transfer. I have seen donor sperm fees in the $200-500 range and donor eggs in the $1500-3500 range.
Let me know if you have any more questions, I hope I didn't confuse you in the first paragraph because I kind of confused myself!
Julie (wife to mark 24 w/CF) division902@hotmail.com-you can email me if you have more questions or you can just post here
Yes -and no. The doctor that told us 1st that based on our gentic testing prior to conception, if the baby ended up with both genes, it would be so mild that if the baby was born prior to the 5 years ago when they did not do newborn testing, the child may go through life with a simple "asthma or chronic bronchitis" dx. This gentic councelor does work in the same office at UMASS as our CF doctor. After Abby was born, and we found out that she did test positive for the 2 genes (despite an amnio that appartenly someone messed up and told me it was negative, but they never actually tested for it...) we ended up with the head of the CF clinic at UMASS as a favor of our pedi. For Abby's 1st whole year - they did 2 sweat tests - the 1st was borderline by 1 ponit and the second was negative, they did a throat culture which only showed e-coli - no PA. The dr kept telling us that he was sure that she would never show any signs or symptoms until the day she had the LL pneumonia. He also tha tday said it was nothing, but since he was seeing her, why not do a routine throat culture. A week later he called me AT WORK to tell me the "bad news". She was put on cipro x2weeks and TOBI for 28 days which she still has about a week left. Her pancreas test came back greater than 500 and the range was 100-200 mild pancreatic insuff. and less than 100 severe pancreatic insuff. The kicker is, and not that I would ever not love abby, but the reason we went to the genetic councelor in the 1st place was if they had told us bad news, like the child could have severe CF, our fertility clinic would have paid for invitro where we would have made sure they embryo was healthy. I sort of have mixed feelings on that, but it is a mute point now anyways.
Moni, I understand your mixed feelings, it's reasonable for you to be upset when you know that beyond a resonable dobut you could have prevented the CF. But that being said and done and nothing you can do about it now...you have a little one with CF to care for. I am glad that they found the CF in your daughter because even for someone with her rare mutations, going through life with an athsma or chronic bronchitis diagnosis; when they really have CF would be a MAJOR disservice to her and your family! On the positive side, at least now you can begin therapies and medications with to keep her healthy. It will make a difference.
Without a dobut I would recommend that you consider IVF with PGD if you would like chilren in the future. Have you considered another doctor considering the information that was given to you? I am just curious on that one. I think it's already been mentioned, I might have already posted it but you can go to www.cff.org to try to find another accredited CF center near you.
I wish you and your family the best. I am sorry it worked out that way for you but all will be ok!
Julie (wife to Mark 24 w/CF)
Without a dobut I would recommend that you consider IVF with PGD if you would like chilren in the future. Have you considered another doctor considering the information that was given to you? I am just curious on that one. I think it's already been mentioned, I might have already posted it but you can go to www.cff.org to try to find another accredited CF center near you.
I wish you and your family the best. I am sorry it worked out that way for you but all will be ok!
Julie (wife to Mark 24 w/CF)