Pros and Cons to Genetic Testing
Due to the various symptoms, and no known family history of PKD, my daughters Nephrologist asked that we do genetic testing to confirm her PKD diagnosis. The testing was completed by Athena Diagnostics, and confirmed a mutation in the PKD1 gene.
After confirming our daughter's diagnosis, her doctor subsequently asked that each parent undergo genetic testing as well. When I asked her why that was necessary, she told me that it would be helpful to her in predicting our daughter’s outcome. ie, if a parent was a non-symptomatic carrier, than our daughter may vary well follow the same course. If neither parent tested positive and our daughter was among the few that self mutated PKD, than she would be more concerned. We were willing to do anything that may help our daughter and therefore each of us has had genetic testing for which we are still in the process of waiting for results.
After we already began the genetic testing, I began reading more about PKD and that is about the time I found the PKD Foundation website. I would caution that if I knew the facts that I have since learned, I am not so sure we would have agreed to do the genetic testing, and I fault all the doctors involved for not providing more genetic counseling before we did this. First, even if either of us does test positive, our "non symptomatic" case may be very different than our daughters. If we have a positive diagnosis in our medical records, we may have more difficulty in securing medical or life insurance in the future, and in reality, this will not accurately predict our daughter’s outcome. (This I learned on my own through websites such as www.pkdcure.org)
I know I am a little crazed about reading everything I can on the internet, but I have also found more often than not that the doctors are not always upfront with the information that we should have been provided with while making decisions.
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15 comments:
Hi, Margaret. Thanks for taking the time to blog about your experiences. Helping to spread the word about PKD is the best step we all can take to get this disease the attention it deserves.
Your daughter's story sounds similar to my wife's. She started having pains when she was in her late teens, and in the course of various tests checking out various other organs, finally a technician decided to take a look at the kidneys and found the cysts. A few weeks later, she was officially diagnosed with PKD. Like your daughter, there is no known family history of PKD, so we suspect she mutated the disease on her own. Unfortunately, we may never know for sure, as her parents weren't particularly interested in having any tests done to help figure things out. Your daughter is blessed to have supportive parents.
I am very surprised that your nephrologist suggested the genetic testing. Even if this somehow did help predict your daughter's outcome, it isn't clear to me what information this will provide the doctors which would somehow alter the course of treatment they will provide her. The unfortunate reality is that until they have drugs on the market which can be used to slow the growth of the cysts, the only "treatment" is diet modification - and those diet modifications are probably good advice anyway.
On the other hand, my wife and I have three kids now, each of whom may have inherited the disease. Sometimes I feel like "I just want to know" but the fear of somehow messing up their future insurability frightens me back to reality.
I've been collecting up PKD-related blogs on my blog. I hope you don't mind if I add yours to my list.
Bob,
Thanks for the comments and sharing your story. One of the goals I have in writing this blog is to spread the word about PKD, and to offer information to others like myself that are looking for more information than what is provided in a doctor visit.
I too am a little confused on what her nephrologist was thinking when she requested the genetic tests. The CT scan and ultrasound should have been sufficient for my daughter’s diagnosis, and everything I have read about PKD has stated that everyone in the same family may react differently to the disease. Of course, I learned all of this after the tests were already completed, or in progress. I do have to admit, knowing my personality type as I do, that I would have been nagged by the questioning possibility if we had not done the tests. I expect to have results at any time and I guess we will know. I do plan to ask a few of these questions at the next office visit in December.
I have actually considered the possibility that they just wanted us to participate in the tests for research purposes. Thankfully, our insurance does cover the cost. (Each blood test was approximately $4,300 per person….and no that is not a typo; it was over $4000 for one person to be tested.)
Hi, Margaret,
I enjoyed reading your blog and can certainly relate to your experience with the medical community. I was diagnosed with PKD two years ago and was sent home from the Nephrologist without being told that this disease would effect my kidneys. I found out what I was dealing with by researching on the internet and I was not too happy with the doctor's slip up (she later said that she just forgot). I requested genetic testing which I got my insurance to pay for and I am not the classic Type 1 or Type
2. My parents are in their 70's and sonograms showed that neither of them have any cysts. I've never read that my being a mutation would make the disease progress any faster. It took me about a year to emotionally get a handle on having this disease and also that much time to find a doctor who knew as much about the disease as I now do. Best of luck with your family and with spreading the word!!! Kerri
Hello, Margaret, I am Lexy, and My mom has PKD. It is pretty bad, and I would like to ask you how much the testing was? My family can not seem to find out, and my dad really needs to know if me or my younger brother have it. I am 16 and he is 15. We want it slow it while we can.
My email is iluxbbi@aim.com
It would be amazing if you could tell me.
Hello Lexy,
I had my genetic testing done with Athena Diagnostics. At the time, they were the only lab in the country capable of running the tests.
My health insurance covered the cost, which was about $4,000.00 per family member, however, Athena did have a patient advocate program that would reduce the amount to about $875 if your insurance would not cover. They also had programs based on financial need. This was all back in October 2007, so you would need to check with them to see what they offer now. There number is 800 394-4493. I believe they have a website as well. If I can locate the website, I will email that separately.
The other option, which is much easier, is a renal ultrasound. If you don't have any renal cysts by now, you are probably ok.
I would also caution that if diagnosed without obvious symptoms, you may have difficulty in the future with insurance. Without symptoms, you most likely won't qualify for the HALT programs either, so I would definetly discuss this in detail with your doctors before proceding.
I do understand that sometimes you just want to know.
My prayers are with you, your mom, and family.
Margaret
Hi, I'm christina. I was diagnosed with pkd two years ago and I am now 15 years old. It does not run in my family. I am now taking a blood pressure medicene for the cysts, but I still have many questions. Like why can't I have a kidney transplant. Yes I know that is major surgery but it would reduce the swelling of the cysts...
If u could email me that would be great, my email is: cshepherd6794@gmail.com
Thank you alot for this blog, it has helped alot!!! :)
I am having an issue with getting diagnosed. I am having sever pains in my lower back. I am urinating blood and have high blood pressure. Generally 145/95. I am in the Army so the care I am recieving is below par. They are saying that my pain is caused by bulging disks in my back. The pain that I feel from that is a good 5 inches lower than the worst of the pain. They have done imaging testing and found 3 cysts in my kidneys and one spot where there was a cyst at one point. I am 25 years old. I am not looking for anything other than for the pain to stop so I can get back to doing my job. If anyone knows what I can do please let me know.
Hello Joshua,
Having a confirmed diagnosis will not necessarily eliminate your pain. There may be some procedures that can help minimize it though. You really need to see a nephrologist.
The primary value of knowing that you have PKD is the ability to participate in, or keep track of the the current trials going on to stop or slow down the progression of PKD.
Best of Luck!!!!
I have lately been immersed on the DNA matter to realized at once everything about it.
I have not find enough information yet, however, I think your blog has lots of useful information related to the topic.
xD
Hi Margaret,
I am having ADPKD and currently planning pregnancy. I want to find the gene mutation from Athena. Have you faced any problems with health insurance or life insurance companies after you got the gene testing done? I too am a little reluctant to do the gene test for the insurance issues.
Thanks in advance
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