I would like to share one interesting experience related with my disease. Just a small recap, I diagnosed with FSGS this year, I am in 3a-3b phase. The problem is since I do not have any other disease, I am classified with primary FSGS. If I had any other certain cause to my kidney disease, then I would be classified as secondary FSGS.
In my case, I have 1.9 g/day protein leakage, and literally had no symptom and realised my disease during a routine check up. So my doctor and I are very indecisive about how to classify my disease, and try to predict the prognosis. Because of this ambiguity I was treated as primary FSGS, but no medication accept ACE inhibitors.
To sum up, my doctor suggested to do a genetic testing, so that at least we will be able to cross one item from the list.
But when I went to genetic testing department, they firstly did a meeting with me. The doctor from that department explained to me that they will look into my DNA, and extract the parts that might be related with my kidneys. Afterwards, they will try to catch any genes or variation that may be causing my disease.
The tricky part is to decide, what amount of information I would want to know, that they find out through this analysis. For example, they can find problematic genes, as well as some other genes that is gonna bring a new disease in my future. Some treatable such as breast cancer, and maybe some un-treatable diseases, such as Alzheimer.
I decided that I want to know whatever waits me in my future. It will take 6 months for them to present some results, and my family thinks that I might be unhappy with the results. But if I will have dementia when I am old, I would prefer to know that, so I can live my remaining days with worthing it.
Is there anyone who did a genetic testing? I wonder what you have found in your DNA
Sorry for a very long writing. I just wanted to share my experience with you.
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tas1kubra
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I've not gotten ant genetic testing done but I did do a DNA test with 23 and me. I didn't find anything there to alarm me. If you're sure you want to know then go ahead with it and find all the answers. AND, even if you have a genetic marker for some awful disease that doesn't mean you will absolutely get it. Also, it doesn't mean just because you don't have the marker you won't get it. Best of luck and follow your inclination not someone else.
I did genetic testing. The doctors were looking specifically for genes that are commonly known to cause kidney disease. Nothing was found.
But, the interesting part of my story is that it was conducted in the pediatrics department. I was there in a waiting room in my 50s with animals painted on the walls.
One recently discovered genetic kidney disease test that is often missed is for ADTKD (autosomal dominant tubulo-interstitial kidney disease). If you have a family history of ckd, check out rarekidney.org for information about the disorder and free genetic testing for ADTKD. Health unlocked also has an ADTKD support group.
I had genetic testing done because I have a retina dystrophy and sensoneural hearing loss. I have a mutation on one gene that causes both but it’s also known to cause issues in other organs such as kidneys, heart , brain, and muscles. It’s caused RP and the hearing loss in me, neither of which are cureable. No idea as to the kidneys as more than likely the BP.
My health care organization is doing a massive genetic study. We all volunteered. It was free. We got ancestry data, data on a few disease markers like breast cancer, and a bunch of other health markers like artic adaptation, cilantro tasting like soap, and several others. It isn't connected to ancestry. Com, so no relative names, just regions.
Yes. I did 23 and me. It confirmed I have the variant for Alzheimer's. That helped with my decision to not do dialysis. As far as I am concerned, the mind is the most important part of the human body. Why keep the body going if the mind is not keeping up?
I'm involved in a couple of studies where there will be genetic testing, but have no results at this time. I've been told by my nephrologists that the autoimmune disease I have has a genetic component, but am unaware of anyone else in my family ever having the same disease. I also follow a husband & wife team of nueorosurgeons who work at Loma Linda University & research Alzheimers. They have said that even with a genetic link, it doesn't mean you will develop Alzheimer's. So the best I can say is eat healthy, exercise, get your sleep, & manage stress. We're all going to die & this is the only way I know to have a quality life.
Hi Tas1kubra - I had genetic testing done about 1 year ago for hypertrophic cardiomyopathy (HCM). There were a few associated diseases that could come up with the testing. I didn’t have any of the gene variants that were related to HCM or the other diseases.
The genetic counselor told me that life insurance companies can/will deny coverage if the genetic testing showed an issue. I am already unable to purchase affordable life insurance due to my transplant, so that was not a big issue for me. Not sure this will be an issue for you…just thought it was worth mentioning, as I had to sign before the testing to confirm I understood the life insurance issue
Hi tas1kubra, I hope it all turns out for the best. Even if you get markers that indicate future disease prevalence, contemporary thinking is giving epigenetics a very important role much more so than before. That is if you know it is more likely you can make diet and lifestyle adjustments that will make it much less likely to happen. All the best. You can do it. G
There is no harm in doing the genetic testing, it probably will not tell you that much - at best it will point out to genetic mutation is associated with FSGS.
If you don't have a history of kidney disease in your family, I'm a little surprised your doctor assumed it's the genetic variety of FSGS.
If you have kids or siblings then maybe the test can point out to a genetic mutation that they then will be able to test for.
I've done the test twice now - but I am clear genetic FSGS, my mom suffered from kidney failure.
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