thanks for all your replies. We did a cycle with IVF and PGD, but it was not successful because of all our embryos were either affected or genetically abnormal. We are now deciding whether to do this again, although we have to wait a couple months.

@nagraj1 - we did gene testing at athena

Best wishes to everyone.

Hi Puppy81 Thanks for you email am hoping it will work for you next time. Can you please provide me the details about gene testing at athena I am in Halt PKD Study My doctor has reports but they will not provide for this purpose. I have PKD-1 (truncating mutation) and my doctor told me i have to do athena Number 728 PKDx Familial Mutation Evaluation* B 10ml L PKD1 and my parents are out of country its not possible to do there testing. I just want know which PKD gene Test you did Athena
761 Complete PKD Evaluation*Step 1. PKD1/PKD2 sequencing
or 728 PKDx Familial Mutation Evaluation* please let me know which one you done what is the cost for that test. my insurance will not cover and 761 Complete PKD Evaluation around $5000
728 PKDx Familial Mutation Evaluation* is $1000. where did you done your IVF and How you spend for both IVF and PGD approximate cost. I am planing to do both in chicago only IVF and PGD.I IVF doctor told me my wife follicle is very good. Please help me regard thid

we did our initial testing with athena, and then pgd with genesis genetics.

puppy - I'm so sorry to hear your first PGD cycle didn't work out. I know all too well how hard it is to decide whether or not to try again. we did 2 PGD cycles before the doctor recommended we quit, mainly because I don't make enough eggs. best of luck in your continued journey whatever you decide.

Hi, came back to close the loop on this one..we did another round of IVF/PGD to screen out the PKD gene. The pregnancy went without problems, and I am a proud mother of my beautiful baby boy.. we have not done genetic testing on the baby to verify the gene isnt present..but after all the hoops I had to go through, I am pretty confident he is healthy. Feel free to PM me if you have specific questions on IVF/PGD. Thanks again for all the hope and support :)

Best regards,
puppy81

I have PKD diagnosed at 15 almost 20 years now with it. I have heard of IVF but it's expensive for me and my job insurance doesn't cover it. I have a 4 year old in which through genetic testing was tested a two years old and unfortunately has the disease. I want a second child but because of my extremely complicated pregnancy due to PKD my husband doesn't want anymore children. Good luck and if you can have it done that's great because it is a 50% chance your children may have this disease and it's bad enough you have it you don't want that on your children.

I'm in the uk and considered PGD but at the time no clinics in the UK had done a successful round of PGD for ADPKD. My husband and I decided that we did not want to be guinea pigs and success rates were too low for us. We decided to opt for treatment with donor eggs and now have a happy, healthy little boy.

Thanks Joeyemma for sharing your story. I am happy that things worked out for you :)

Can anyone share what lab they have used for PGD?

My husband and I were planning on doing IVF with PGD. My husband has no family history, but we have gotten his mutation report back from Athena Diagnostics and it shows a PKD1 mutation.

I have started contacting PGD laboratories to decide who to use.

RGI just got back to me today and told me that they could not do PGD with direct mutation analysis and that they need to use linkage analysis, which means that we cant move forward because there is no family history.

This is very frustrating and I am hoping that there is another laboratory out there that is able to create a probe to test for ADPKD.

Any insight into this process would be greatly appreciated!

Hi kap275,

We use Natera (http://www.natera.com/), they did use linkage analysis for me. You can contact them and find out. If they have the exact mutation on the report, they might be able to help.

Best wishes to you :)

I'm not understanding this PGD stuff. From what I've read they need an embryo to do the genetic testing? If you are okay with them destroying an embryo that isn't perfect why not just get pregnant the ordinary way and if they find the fetus isn't perfect just have an abortion? I don't know how much PGD costs but it's got to be more than it costs to abort. It's the same thing. To me once an egg is fertilized it is life.

I'm old fashioned and pro life. To me an embryo is life. Even looking at it scientifically that's how human beings came to be anyway, cells.

Personally if I had wanted a biological child I would have gone the way that JoeyEmma went. Instead we adopted and I love my kids.

shirleymac,

You were able to adopt having PKD? Early on we looked into this but were told that we were not a candidate for adoption because my husband has a life threatening disease. I was surprised at this response as he has never had symptoms and is relatively health otherwise and we both have great jobs, a house, etc... His nephrologist has said that based on his progression so far she expects him to have minimal pain if any, so I was disappointed to find out we were not considered candidates for adoption.

puppy81,
Thanks for the suggestion. I contacted Natera and they were wonderful, but unfortunately not able to do the testing since there is no family history and PKD has several pseudogenes that can affect direct detection.

So far I have contacted Natera, IVIgen, RGI, Reprogenetics, Genesis Genetics and FEC. I am still waiting back to hear from a few of them... so hopefully things will work out.

It looks like we may use a sperm bank, although I havent done much research on this. Does anyone have any experience in this area? I am a little nervous because my husband's nephrologist actually has another patient who was conceived using donor sperm and now has PKD, possibly from the donor sperm, if not from a new mutation.

Maybe we were able to adopt because it was the 1970's and even though they were strengthening the requirements at that time we were still able to qualify. we got our daughter fairly quickly because the birth mother had kidney problems (not PKD) and she wanted someone who would be understanding if my daughter inherited it. She didn't thank god. Also we're in Canada, don't know if that makes a difference. Thing is I was diagnosed at 23 and at 64 am still okay... stage 4 but no real symptoms aside from tiring easily. My husband on the other hand, died 2 years ago at age 64. So I don't see why a healthy person with PKD wouldn't be able to adopt. The only reason I can see is that more and more teens are keeping their babies now so there aren't as many available. The system can afford to be choosier.