The mystery of PKD - Polycystic Kidney Disease

[okarol]

Twirl, I have alcoholism and hypertension in my family. My husband also has alcoholism and cancer in his. We probably shouldn't have kids? That's too sad to imagine!
My dad died at 28 and managed to father 4 kids before he passed. I am grateful for my life. Things happen the way they are supposed to.

[okarol]

There's a new book about a woman with PKD, her name is Valen Cover - the news story is here. http://ihatedialysis.com/forum/index.php?topic=9500.0

[twirl]

O'karol 
thank you

[Hazmat35]

I have been diagnosed with PKD since 1999.  My mother had it, and it took forever for them to find out what was wrong with her.  Mom has since passed away due to complications 11 years ago. 

Since then, I have discovered that I have it, my sister has it, my [2] nephews have it.  I had a brother who passed away, before mom was diagnosed, so we don't know if he did.  My sister, has also passed away, due to complications with it. 

I am currently on Dialysis 3X / 4 hours / session.  The cysts that I have a so numerous they can not count them, so I am told.  I don't know how big they are, but I am looking into it. 

Lately, my back pain, has been so severe, that I am toying with the idea of having a full or partial Nephrectomy (removal of the kidney(s).  I am trying to justify the pain vs. the surgery.  I will be on Dialysis for the rest of my life either way, but I just can wrap my head around the surgery, the recovery and the mental issues associated with it. 

This is a GOD AWFUL disease, and I wouldn't wish it on my worst enemy!  God Bless anyone who has it! 

[cloud393]

I was 21 years old when I was diagnosed with PKD and am now 42. I started D at age 40.  Doctor told me some people have problems some don't, nothing you can do about it (when I was diagnosed).  So I didn't think it was a big deal.  Had 4 kids, no problems except high blood pressure during 3rd pregnancy.  Got on meds for that and started watching salt.  Drank beer pretty regularly unfortunately.  But hey, didn't think it was serious for many years.  Sorry for that now but I can't change it.  Would I trade my kids for healthier kidneys?  No way!!  It will be very sad if they have the disease but, we will be able to deal with it.  Life is a trial, not a guarantee for anyone, not even the healthiest.  You can't let it put your life on hold, what's the point?  Everyone dies of something.  Anyway, enough rambling.  Here's my history:
                          Maternal Grandfather died of brain anyurism (probably PKD related) in his early 30's although he fathered 10 chilren
                          3 Sisters of Maternal Grandfather had PKD and were on Hemo D. All now deceased.
                          My mother has PKD and is on transplant list as of 8/10/10 (age 61) although no dialysis yet
                          2 of mom's brothers had PKD and each were on hemo for 14-15 years.  Started D in their 40's. Both deceased now.
                          1 of mom's sisters has PKD and was transplanted 1.5 years ago.  She started D in her mid 50's.  Doing well so far.
                          1 of 2 of my brothers had PKD.  The one w/pkd was diagnosed during his autopsy.  Death due to suicide. Age 20.
                          So far we know of 3 cousins who have it.
After my bi-lateral nephrectomy next friday, they will use my kidneys for research.  I hope it helps someone someday.

[okarol]

There's a new book about a woman with PKD, her name is Valen Cover - the news story is here. http://ihatedialysis.com/forum/index.php?topic=9500.0

I just got this from Valen Cover (she's very active speaking about PKD and kidney disease):

I am e-mailing to share some very exciting news with all of you! When we arrived in June, I entered a nationwide contest and am thrilled to announce that I was selected as a winner of the 2011 Astellas Ride of a Lifetime Contest!

“On January 1, 2011, the Donate Life float will roll through the streets of Pasadena reminding millions of viewers of the Rose Parade® to "Seize the Day" and register as organ donors in an effort to save lives. Aboard the float will be the five winners of the 2011 Astellas Ride of a Lifetime(SM) Contest, whose stories about how transplant changed their lives serve as an inspiration to others.”

"Astellas is committed to the Donate Life Rose Parade float because it provides such a meaningful and high-profile platform to promote organ donation," said Charlotte Berlin, Senior Product Director, Immunology, for Astellas. "We know that our winners' powerful and remarkable stories will touch others and prompt new registrants, and we are honored to work with them to help make that happen."

“This year's float, themed "Seize the Day!," will feature colorful kites soaring in the wind to symbolize making the most of every moment to build dreams, friendships and memories with loved ones. The tails of the kites will be adorned with memorial "floragraph" portraits of deceased donors whose legacies lift the kites and the hopes of those in need of transplants.”

I am also excited to share that Lori Hartwell, Founder of the Renal Support Network, did an interview with me for her KidneyTalk program! The below link will take you to the site to listen to the interview. http://www.rsnhope.info/programs/kidneytalkshows/Cover_Valen/Cover_Valen_092010.php

..................

[brandi1leigh]

I was diagnosed with PKD when I was 32. No one in my family has PKD. Both of my parents were tested after I developed it. Looking back on my life, I've exhibited symptoms for years, but no one ever thought to check for PKD.

I'm single (age  34). And don't intend to have kids. If I were to meet someone, and he wanted kids, I would have to think about it long and hard. For numerous reasons, however, the possibility of passing on the disease would be a factor. I don't judge anyone who had kids with the disease. I agree that everything happens for a reason. But for me, at this point in my life, I would have to consider PKD and the misery it can cause.

[gregory]

P.K.D. got my dad, my uncle,my aunt, me, my brother, my mother-in-law, my wifes aunt, and some of my wifes relatives have it. Our god daughters baby was born with it and passed away.

[chook]

I believe everyone is on this earth for a purpose and everyone has their burden to carry and learn from. I don't ask God, "Why me?" but rather thank him for having kidney disease (which can be treated to some extent) instead of something more unbearable.

I can relate to this comment. At least I am mobile and maintain a good lifestyle.
I was diagnosed with PKD at age 8 as my Dad had already been diagnosed. Dad dies at age 62 from complications with haemo. Dad's family showed no symptoms but a lot of my cousins on his side have PKD. There are 6 girls in my family and only the 2 youngest have inherited. My sister with PKD was diagnosed 'accidentally' whilst undergoing a scan for schleroderma. (No-one should have more than one disease!) When our youngest daughter was ill as a baby, I remember so clearly the specialist asking why I'd had a child when I knew I had PKD. I said that I'd had 20 trouble free years and she could have the same. As a result of that early illness, our daughter had a cyst on her kidney and PKD was indicated because of that. But my Dad's neph told me that cyst can develop on kidneys from being unwell and that it was NOT an indicator. (I'm going with his opinion) Daughter is now mum of 2 and almost 30 and clear so far. Would love to have both of our daughters genetically tested for peace of mind or early intervention.

[Des]

I found out about PKD for the first time (ever) when I was diagnosed with it about 7years ago. Kidney stones, infections and pain made the doc send me for further tests and that was when I was diagnosed.

This was after I had  my 3 children.

I was adopted at 4 years of age and I knew that my biological dad died when I was in grade 8 from kidney failure "lightbulb" . Now I know from what?! PKD.

I refuse to force any of the kids to be tested, unless they want to. They can't be helped anyway - and I don't want them to worry about it.

[Hazmat35]

I found out about PKD for the first time (ever) when I was diagnosed with it about 7years ago. Kidney stones, infections and pain made the doc send me for further tests and that was when I was diagnosed.

This was after I had  my 3 children.

I was adopted at 4 years of age and I knew that my biological dad died when I was in grade 8 from kidney failure "lightbulb" . Now I know from what?! PKD.

I refuse to force any of the kids to be tested, unless they want to. They can't be helped anyway - and I don't want them to worry about it.

As much as you don't want them to worry about it, you need them to worry about it.  If they have the disease, then there are things that they can do early, to help with future issues that will or might be caused by the disease.  Such as diet and exercise.  Watching what you eat and getting lots of exercise are very important in the early stages.  Also, knowing you have it, and watching the progress, can eliminate other health issues as well. 

Please don't ignore it! 

[okarol]

Lately, my back pain, has been so severe, that I am toying with the idea of having a full or partial Nephrectomy (removal of the kidney(s).  I am trying to justify the pain vs. the surgery.  I will be on Dialysis for the rest of my life either way, but I just can wrap my head around the surgery, the recovery and the mental issues associated with it. 

No transplant?

[rsudock]

this is so interesting that this convo came up b/c i just went to a genetics counselor with my sister at Akron Children's hospital. They are suspecting my sister's baby might have it now won't know for sure until the baby is born in December!!! My mom always told us (my siblings and I) that autosomal recessive PKD was on my dad's side, but the genetic person told my sis and I that both the parents have to be carriers for offspring to have it. No one on my mom's side of the family is sick but my father had many sick siblings and he, himself was not well when he left the country. Of course no one in my father's family had a confirmed diagnosis. In my family only my brother and I have it and our disease has progressed at the same time frame. We are all now going to get tested to get to the bottom of what is going on...the genetic counselor told me that if I would have kids all of my offspring would only be carriers.  Who knows, we will be doing more testing and searching of genetic answers....keep ya updated.

I was reading what Twirl mentioned about having kids knowing that you are sick and I can understand the pain and frustration in her "voice". I think all humans want a chance to have families and even though we do have PKD it doesn't mean that the chance should be eliminated.  Yes maybe our children will have to deal with this dreaded disease but there are healthy people all the time having kids and ruining them. (look at the foster care system) so just because you have a disease doesn't mean you can't live a long and productive life. I have graduated, found true love, work, and have wonderful supportive family and friends...I can't ask for more. If I wasn't sick I probably wouldn't value life the way that I do. This disease has always been in the background motivating me, pushing me to live everyday to the fullest and to love all the people in my life with an open heart. My boyfriend always tells me he would never get rid of my disease b/c I would be a totally different person without it.

the thing with this disease it can be tested invitro...so the choice to teriminate is there...but I don't know if I could do that because I have done okay with the hand that life has dealt me.

xo,
R

[okarol]

Hey rs - I was wondering how the baby was, not sure if you posted it elsewhere. Also, I look forward to seeing what you find out about your genetic testing. 

[mogee]

My mother and one of her sisters had PKD.  One of my cousins, the son of a different sister, has PKD.  I have PKD but my sister does not.  Interestingly, both my mother and I had ESRD but not from PKD.  My kidney failure is the result of IgA glomerularnephritis, while my mother lost her kidneys to hypertension and type 2 diabetes.

[rsudock]

Hello Okarol thanks for thinking of me....
when the baby was in the womb they only detected 2 cycsts on the right kidney. she just went for another ultrasound and found another cycst. making it 3 cysts total on the right kidney. thankfully the left is still clear. The nephrologist thinks from the size and shape of the cysts and where they are located it is not PKD. My sister is still insisting to get her genetically tested. We ran into the genetic counselor at the hospital and she said, "oh well I put that on hold...did you still want to move forward with that?" I mean good gawd I had to let the genetic counselor have it after that! My sister was laughing about the verbal assault I bestowed  on her!  (ok it probably wasn't that bad, but I still let her know how displeased I was) My poor little Bella and sister having to live in limbo the nerve. Anyway we are going to go at the end of Jan.... I want my mom to get tested too to see if she is a carrier. That might take some convincing...

xo,
R

[okarol]

Yesterday at Jenna's transplant evaluation the surgeon asked if there was any other kidney disease in our family. I said yes, my dad, sisters and brother have PKD. He asked if I had been diagnosed with it, and I said no, but our neph said at my age I would have symptoms by now. He frowned. Then he asked Jenna if she had PKD (even though we just said it was a bad bladder that caused the CKD.) I said, "I thought if I don't have it, I can't pass it." He said "Well, it can skip a generation." Now I have never heard this before (except in the case of the other kind of PKD where mother and father have a recessive gene, I think, oh man what is that called?) I think he might be wrong. But I just "Huh. That's the first time I heard that."

[rsudock]

i think there is much more research to do on PKD to understand the genetics of it...it is all so confusing...

[chook]

I believe (from the things I've read) that PKD has to be directly inherited: if Mum and Dad are clear, the children will be free of the disease. That is not to say it can't suddenly appear out of the blue in a family. But every now and then I read a statement that disagrees - no wonder the issue gets confusing. Not having any symptoms doesn't mean the disease is not there. My sister was diagnosed by accident at 40, without ever showing any symptoms, not even a UTI.

[okarol]

I believe (from the things I've read) that PKD has to be directly inherited: if Mum and Dad are clear, the children will be free of the disease. That is not to say it can't suddenly appear out of the blue in a family. But every now and then I read a statement that disagrees - no wonder the issue gets confusing. Not having any symptoms doesn't mean the disease is not there. My sister was diagnosed by accident at 40, without ever showing any symptoms, not even a UTI.

I am 56 years old and the neph said I would have elevated BP by now. Mine is very low, but yes, without an ultrasound there's no actual proof that I don't have PKD.

[Ang]

don't worry karol your clear by about 35 years,it generally surfaces early 20S,if it has'nt raised its blood filled cysts by then,theres small chances of it coming.although mine was detected at 32 years old.
heres how:

came back from visiting my now wife in queensland,looking in the mirror thinking jeepeers your FAT
work sent me for a medical, gp says off to the hospital for ultrasound.
your life has descending in to a nightmare.

the hardest part was telling my dad, his wife / my mum died of  esrd when i was 1 year old.

[chook]

Karol, I'd be taking your low blood pressure as an indicator of being PKD-free.
My Dad's brothers were never diagnosed with the disease and one lived well into his 80's in pretty good health. In our family it seems to have been carried more in one branch of the family than in others, so I guess in that it is a hard disease to predict.
As Ang says, symptoms should appear in the early 20s. I was diagnosed at age 8. My daughters were tested at 20 and have been advised to have an ultrasound every 10 years - just in case.
Bring on more research!

[Jie]

I believe (from the things I've read) that PKD has to be directly inherited: if Mum and Dad are clear, the children will be free of the disease. That is not to say it can't suddenly appear out of the blue in a family. But every now and then I read a statement that disagrees - no wonder the issue gets confusing. Not having any symptoms doesn't mean the disease is not there. My sister was diagnosed by accident at 40, without ever showing any symptoms, not even a UTI.

I remember reading somewhere that about 1/4 of PKD patients are not from inherit. I personally met one buy whose parents and grandparents have no PKD, but he has it. The study said by age 30, more than 99% of PKD patients can be detected by Ultrasound. I also know someone whose cysts occurred at about age 50. It is just frustrating sometimes for us PKDers to find a donor within the family. 

[rsudock]

Here's an update on the genetic stuff....

My sweet 5 month old niece Bella went for an ultrasound. Now I know it is just an ultrasound but as I helped my sister keep the baby as still as possible and watch her interact with her my heart broke. My sister is such a good mommy. She was singing Twinkle Twinkle Little Star and making silly faces at her. It was so touching to see what a great mom she is to Bella. It made me think back to how my mom was and sadly she wasn't like that with Neil and I.   I just found my self making a deal with God, even if it means my life will have to be shortened then please spare Bella. I just couldn't bare the thought of having this sweet baby on dialysis.....

Christina called me and said that the nephrologist said that the kidney's cysts are shrinking and the kidneys themselves look normal!!! Thank you Lord!!!

We talked to the genetic counselor and genetic doctor.  Basically Neil and I have autosomal recessive kidney disease. 1 out of every 40,000 births someone is afflicted with it. (darn I thought I was one in a million!)  both of our parents had to be carriers. (sorry mom) People who are inflicted with this also have problems with their livers and spleens. Of course so far Neil and I's liver has been okay but we do have scarring. Then of course we both have had to get our spleens out b/c of this disease.

So they are going to get prior authorization the test cost about $3000, they would not do it unless I had private insurance.  The will find the defective gene on chromosome 6....Then they will test my sister, Bella, and my boyfriend.

So there is hope that if Aaron and I have children then they might not be affected just b/c I have the disease. Also my sister can either be a carrier or not have the defective at all! So all her kids would be okay....

Finally the doctor was talking about IVF and how they can take my eggs and Aaron's sperm and test the embryos to see if they have the defective gene and if they do not implant those embryos....but I don't know if I can do that. I mean I have a great life and have accomplished a lot. Would I be playing God making decisions like that?

On the way home Aaron and I were driving and he looked at me and was like, "Did you think that we shouldn't play God when the doc was talking about IVF?"  So amazing how we are constantly on the same pag even across the room!

xo,
R

[brandi1leigh]

I believe (from the things I've read) that PKD has to be directly inherited: if Mum and Dad are clear, the children will be free of the disease. That is not to say it can't suddenly appear out of the blue in a family. But every now and then I read a statement that disagrees - no wonder the issue gets confusing. Not having any symptoms doesn't mean the disease is not there. My sister was diagnosed by accident at 40, without ever showing any symptoms, not even a UTI.

I remember reading somewhere that about 1/4 of PKD patients are not from inherit. I personally met one buy whose parents and grandparents have no PKD, but he has it. The study said by age 30, more than 99% of PKD patients can be detected by Ultrasound. I also know someone whose cysts occurred at about age 50. It is just frustrating sometimes for us PKDers to find a donor within the family.

I'm 35 and was diagnosed with PKD at 32. I'm one of the lucky ones who's parents don't have it (both have been tested). We don't know of anyone in my family who has ever had it. All of my grandparents have passed away, so we can't be sure that one of them might have gone undiagnosed, but their medical histories don't really indicate it. I'm an only child, but none of my cousins are have shown any symptoms.