We have had a couple of people on here talking about this. In your position, I would do anything I could to avoid passing on this disease. It could eliminate PKD in your line of the family, which would be fantastic.

I had my three children before I knew about having PKD so never an option for us, but I would have definitely taken the chance to stop the risk of my kids having this disease. I hate the thought that my kids may have it too

Thanks guys!

Hello,

My husband and I are currently in this process. Two weeks after we were married my husband was diagnosed with PKD with no family history and his nephrologist suggested this as an option if we wanted to have a family.

In our case the first thing that we needed to do was have his mutation sequenced. We did this through Athena Diagnostics. After that we had to start working with an IVF clinic. We are located in Maryland and are using Shady Grove Fertility. We then needed to find a laboratory to do the Preimplantation Genetic Diagnosis (PGD), where they would test biopsies of the embryos to determine if they carried PKD. In our case it was extremely difficult to find a lab who could test for my husbands mutation because there was no family history. Most labs that we spoke to perform this test using linkage which is established from a family history (meaning that you would need to be able to provide DNA samples from other family members). We ended up working with the Foundation for Embryonic Competence, which is located in NJ and was able to directly detect the mutation. So far we have done one IVF cycle which resulted in 2 embryos that were able to be biopsied and are starting a second cycle this week. This was done like a typical IVF cycle where I took medication so that I would produce many eggs at once. Then the eggs were removed and each one was fertilized with a single sperm. The embryos grew in the lab for about 5 days until they could be biopsied. The biopsy is then sent to the lab for analysis and the embryos are frozen waiting for the result. I am 31 with no history of fertility issues and hyperstimulated during the first cycle so it was not as successful as expected.

I would be happy to share any other information. When we started this process I found it difficult to find information or other people who had done this.

Good luck!

This information I find very helpful and interesting. My soon to be husband and I were talking about safe ways that I could have kids since I have PKD. I didn't know that there was a way for the doctors are able separate the eggs and replant the PKD free ones. That gives my heart a lot of hope so I thank you :)

I am also in Maryland! This is very helpful information. My doctor's never really gave anymore details of how the process would be like so I am so happy you were able to explain your process. I think I am having a hard time with knowing that embryos are growing but then won't be used if they have the PKD gene. The whole process just still seems scary to me and and strange that my baby would be like hand picked instead of it just happening on it's own, but then again that baby would be PKD free! I think I will just need to talk to my husband more about it too. Good luck to you and your husband! I know your future baby will be so happy you put in all the work and effort to make sure he/she has healthy kidneys :)

https://threepeas.wordpress.com/2010/01/23/arpkd-vs-adpkd/

Please read this, I hope it helps :) It helped me a lot.

I read this Jenna. The grandaughter of "concernedgran" must have ARPKD. It wouldn't be expected to appear anywhere else in the family. If a person has a single recessive gene for something, it doesn't show up. If a child has a recessive gene for ARPKD from each parent, ie two genes for it, he or she will have ARPKD. The odds of this happening are quite low so the incidence of ARPKD is much lower than ADPKD.

I was trying to determine for sure which case of PKD I have. Based off of the information I was given online about each 2 types and doing a few punnet squares I believe it is safe to say that I have ADPKD with a 100% chance of my children being carriers. Somewhere between 25% and 100% of them actually having it.

Jenna,
It's not possible to be a carrier of Autosomal Dominant PKD. If you have the gene, you have it because that gene is dominant. If you don't have the gene, the disease disappears and none of your descendants will have PKD. if you have Autosomal Recessive PKD, you have two copies of the recessive gene, one from each parent. You will have ARPKD. Your children will not inherit the disease unless your partner also has a PKD gene, which is reasonably unlikely. One recessive gene for ARPKD will be outweighed by a normal gene. If you have one recessive gene and one normal gene, you will be a carrier. There are only carriers with recessive inheritance not with dominant inheritance. Even if both (unaffected) parents have a recessive gene, there is still only a 25% chance of a child inheriting both of thise genes and having ARPKD.

It seems you are most likely to have ADPKD, which means that each of your children would have a 50% chance of having the disease. If they got your dominant gene they would have it, if not they would be clear and thus unable to pass on PKD.

Hope this helps.

Chewitt

After rereading this a few times and other information I read, this does help quite a lot :) With that being said I thank you.

I have ADPKD as well. My Father had it and I have it now but my sister so far has had no systems and she gets blood work and ultra sounds regularly to make sure. With my first son I went to a high risk pregnancy doctor and they monitored the size of his kidneys as he grew and they were always larger than the average size, but unborn babies cannot be diagnosed with the disease. When he was born his kidneys were measured again and they were measuring average size. We will just have to follow up with him his whole life and hopefully he doesn't have PKD! Also thanks for the article!

Sometimes unborn babies can be diagnosed with PKD if cysts are seen on the kidneys in scans of the fetus. More often the cysts take time time to show up (perhaps not until the late 20s) so it's a case if wait and see. My sons (15 and 17) haven't been checked yet. They will decide if and when they wish to have checks when they are ready. Fingers crossed that all of our children will be unaffected.