PKD Connection Blog

Knowledge, PKD Will Not Beat Me

Choices

Life is full of choices and decisions. Life leads us down many different paths. Some turns we have full control over. Others we are swept up by a strong unwanted gust of wind and dropped right in the middle of unknown territory. PKD can force us to make big decisions in life and to make sacrifices. PKD can make us stronger with steadfast values. We learn from our choices. We grow from our decisions. Although we are in different phases on our PKD journey, we fight together, are stronger together and are one family united together.

One of our fellow PKD fighters, Stefanie Staggs (Stefanie Long), is in the midst of making big life decisions. She is 27 years old and lives in Nashville, Tennessee. She was diagnosed with PKD when she was 23 years old. Elevated heart rate, chest and side pain led her to the doctor’s and her eventual diagnosis of PKD. Stefanie’s father passed away at 33 years-of-age from a ruptured aortic aneurysm. At the time of Stefanie’s diagnosis, she had never heard of PKD. Her sister went to the hospital where their father passed in 1991. They obtained a copy of his records which said he had bilateral kidney cysts and PKD and that all family members should be screened. They were never told this information. Fortunately, Stefanie has full kidney function and only occasional back pain from her enlarged left kidney.

Stefanie

Stefanie is the only one in her family living with the disease. She wants to do anything in her power to stop this disease from spreading further in her family tree. She desires to have children and to save her kids the heartache that typically comes from having PKD. These strong emotions led her down the path of pursuing pre-implantation genetic diagnosis (PGD) and in vitro fertilization (IVF). She received the thumbs up from her nephrologist that it was safe to pursue this route and pregnancy.

She learned of PGD while online researching pregnancy and PKD. Stefanie’s explanation of the process is that you go through the typical IVF process like someone with fertility issues would. After stimulating your ovaries with medications, multiple eggs are retrieved and are fertilized with your partner’s sperm. The embryos that fertilize and survive five days can then go through PGD testing. PGD testing is completed with a test that is made weeks before you go through the IVF process. A test is developed based on cheek swabs from you, your parents and your husband or partner, as well as a genetic blood test. Her father’s hospital records were also sent showing the PKD connection. The test identifies the exact gene and chromosome in your body affected by PKD. The embryos can then be tested to see which embryos are/aren’t affected by the disease. Then the embryos that don’t have the disease can be transferred to the woman in hopes of a healthy pregnancy without kidney disease. The testing is 99% accurate. The man or woman could have the disease.

There are many women who do not find out they have PKD until after they already have children. Stefanie feels strongly that she learned of her diagnosis at a young age so that she could do this testing. This type of decision takes dedication, as it does not happen overnight. This has been two years in the making for Stefanie and her husband. It has been a bumpy process for them, but they continue to remain positive. Out of all of the embryos they had fertilized (over 15), only 3 were unaffected. They transferred one embryo and got pregnant. Sadly, in June of this year they had a miscarriage at 10 weeks. They are currently two weeks away from their second transfer using their frozen embryos. They will know by Thanksgiving if they are pregnant.

I admire Stefanie’s devotion, persistence and commitment to her desire to have children who will not suffer from PKD. She said she has learned patience through this journey. It is hard for her to hear about all of her friends’ pregnancy announcements when she is trying so hard herself. But she continues to forge ahead with this well thought-out plan in hopes to stop this disease in its tracks.

One person’s decision in life does not mean that is the best path for each of us to follow. I do think hearing others’ experiences and choices helps to make us well-rounded in our thought process and knowledge base. Stefanie’s message to all of us is that if you know you have PKD or any other genetic disease, do your research and learn your options. When presented with a diagnosis such as PKD, it is easy to feel as though you have minimal control. Please remember that there are certain aspects in our life that we can control. I encourage all of us to focus on what we can control rather than what we can’t. Embrace the path we are on, whether it is one we were swept up on or one we chose.

Have you heard of PGD? Any information or first hand experiences you are willing to share would be greatly appreciated.

 

Comments

  1. Olgerta says:

    Compliments to Stefanie…. I wish you a successful pregnancy! God be with you! :)I have never heard of PGD, but as you explain it , it seems promising although I may not have the chance to undergo it since in my country it is not a familiar concept and the Health System is not so progressed… Wish you all the best! 🙂

  2. Mary D. says:

    Stefanie, I admire your bravery and your plan to end this disease with you. I like most was diagnosed after my two children were born so I was spared the difficult decision which in my case has so far been a blessing. My oldest is 35 and non PKD and my younger boy is too young for good diagnosis at 25 but he has one cyst already, and even changed his major to Nutrition and Body Science to understand this disease and help our family. Yes, My children are 10 years apart and at the time I didnt understand my 7 miscarrages in between( Now likely caused by PKD) but I never would have met that amazing 25 year old if I hadnt kept trying. Also, Sounds wierd but by my 8th pregancy my Doctor and I were in lock step so when I told him to stop doing internals at 10 weeks, because i miscarried 2 weeks later- He did. My first and only internal was on the delivery table. I wish you strength and warm hugs as you fight to become a mom. Don’t give up.

  3. Stefanie says:

    Thank you valen for bringing this topic to light! Very thankful for the prayers and support! Would love to hear if anyone else had heard of PGD!

    1. Valen Keefer says:

      Hi Stefanie,
      You are very welcome. Warmed my heart to read of the stories that others shared on this blog post. Thank you to everyone who commented on this post. Stefanie, thank you for suggesting to bring this important topic to light. Sending lots of strength and love to you, your husband and family. Hoping to hear good news from you soon. xo

  4. Cathy says:

    Dear Stephanie ,
    I, too, learned that I had PKD at age 23. My husband & I went to genetic testing , but the year was 1979 and all we were told then was to not have children. It was very difficult for me to accept this advice, so we decided to have one child. After years of trying and a mis-carriage, we had our son when I was 30. If PGD had been available at that time, I know we would have pursued it in order to have more children. Thank you so much for sharing this information- it is so important that those of us with PKD keep up with current medical advances that can help enhance our lives.

    I admire you so much for striving to live the life you want to live by the choices you are able to make. Stay strong!
    Many blessings to you & your husband,

    Cathy
    P.S. Our wonderful son is now 30 yrs. old & I ‘m 4 yrs. post-transplant. My life has been overflowing with so many blessings-I wouldn’t trade places with anybody! Oh, I live in TN & had my transplant at Vanderbilt!

  5. Stefanie says:

    Cathy- your pkd story is very inspiring! Thank you for your positive comments! I hope your transplant continues to thrive… Such a small world- I’m right down the road from Vanderbilt:)

  6. Emily says:

    Stephanie,
    Thank you for having the courage to share your story here. My husband and I are about to go undergo PGD for the first time ourselves. It is so nice to hear stories from and connect with others who are going through the same process that we are. I wish you and your husband good luck and hope you have a healthy, successful pregnancy. You all are in our thoughts.

  7. Brad says:

    Hi Stefanie,

    Thank you for sharing. It was a very inspirational read. Although I am not a woman, my family and I suffer from PKD. This article was very interesting to me as I have always wondered if there was a way to select non-PKD sperm. It looks like there is a way to select eggs so I am hopeful the same is true for sperm.

    My wife and I have one son that is now 14 months old and it haunts me every day that he may also have PKD like his me, his grandfather and several others in our family. My wife and I are starting to consider having another baby and I would like to find out as much information as possible on this topic. Even if we don’t do it, I would like to be educated enough to make an informed decision.

    If there is any information you came across in your search I would be very grateful if you could share.

    Thanks,
    Brad

    1. Valen Keefer says:

      Hi Brad,
      This is Valen, the author of PKD Will Not Beat Me. I am glad that you enjoyed this blog post. Stefanie’s email address is stefanie.long@gmail.com. I am sure she would be happy to share her knowledge with you. I wish you all the best on your PKD journey. 🙂

    2. Kathryn says:

      Hi,
      I was wondering the same thing because I found out I had PKD while pregnant with my 3rd son who is now 21 and discovered that he has PKD last summer. My first son has it also. I also was wondering about being able to select non-PKD sperm.
      Thanks,
      Kathryn

  8. Michelle says:

    Hi everyone!

    My name is Michelle, I was diagnosed with PKD when I was 13, I’m now 28. I had a transplant 2 years ago and my husband and I are hoping to have a family of our own. We always thought only adoption would be our future but it’s inspiring to see someone else choose the route of genetic testing and IVF. I’m trying to find somewhere to start the process but my nephrology team doesn’t know much about this process and haven’t really given me anywhere to start. I’m hoping someone could help lead me in the right direction? Thanks!

    1. Valen Keefer says:

      Hi Michelle,
      This is Valen, the author of PKD Will Not Beat Me. I think Stefanie would be a great start for you. You can email her at stefanie.long@gmail.com. I am sure she would be happy to share her knowledge with you. Hope this helps! Also, if you are on Facebook, there are PKD group sites that would be a good place for you to ask questions about this. I wish you all the best on your PKD journey. 🙂

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