The mystery of PKD - Polycystic Kidney Disease

[*kana*]

My grandmother died at 40 with PKD renal failure the year they came out with dialysis
My father committed suicide at 38 because he couldn't live with the thought of being on dialysis in the coming months.
I went into failure when I was 38.  I had controlled hypertension starting when I was 12.
My sister was 40 when her PKD kidneys failure.  No hypertension 

[vanessa]

This is how i found out about this ugly monster we call p.k.d. . in June of 2005 i was helping my partner seal the roof on our moterhome and i slipped off of the ladder. i went to the er thinking that i had braken my tail bone the of course sent me home with pain meds and told me to rest for a few days. about 2 days later i received a call explaining that i had kidney stones which were seen in the x-ray they had taken. i was sent to a urologist. he then performed what is called a lipsotripsy. when i continued to pee large amounts of blood the Dr. called me in for a transvaginal ultrasound and there it was the dreaded polycystic kidneys. i had never met my father and my mother was no where to be found at the time so i had no clue what or where it had came from. i decided to look for my father and once i found him i found out that he had a heart transplant and a kidney transplant , all three of my uncle's had transplants and my grandmother had passed from p.k.d. now here i am on a waiting list !! i have two boys whom as we know have a 50% chance of having p.k.d. what a scary thought . i just wish i could take it all away so that this monster had no chance of repeating himself in my boys or their children ect!!

[okarol]

My grandmother died at 40 with PKD renal failure the year they came out with dialysis
My father committed suicide at 38 because he couldn't live with the thought of being on dialysis in the coming months.
I went into failure when I was 38.  I had controlled hypertension starting when I was 12.
My sister was 40 when her PKD kidneys failure.  No hypertension

Wow what a family history. 
I am so sorry for everyone effected by PKD.

[mogee]

Okarol wrote:  I often wonder why this family disease was not recognized as being a hereditary problem in my family until 1987 when a nurse told my sister that we were at risk. My dad had died at age 28 of a cerebral hemorrhage in 1963, and my mom seemed to know very little beyond that, except that he had kidney disease.

Cerebral aneurysm is a common co-morbidity in PKD patients.  Your father's cerebral hemorrhage was likely due to the PKD gene.  When I was first diagnosed with PKD my nephrologist gave me an MRI to see if I was at risk of cerebral hemorrhage.  She was particularly concerned because I also have obstructive sleep apnea.

[Cordelia]

I found out I had this disease sheerly and I mean, sheerly by fluke.

When I was 19  years old (I'm 39 now) I had some rectal bleeding upon having a bowel movement and had this everytime I had one.... I was scared out of my wits it could be cancer since I was adopted as a baby and I DO not have any history of my medical history so I went to the doctor had it checked out and he sent me for an upper and lower GI series of my bowels/intenstines.

Needless to say after many humiliating tests it was ruled out that it was not anything serious like cancer much to my relief and it was only likely a tear/fissure/hemorrhoid  that caused me to bleed upon having a bowel movement everytime.  To make a long story short,  when they did those nasty invasive tests, they found the cysts on my kidneys and told me I had PKD. I was like what!? I'd never heard of it. I was only 19.   Back then, they did nothing about it. I was monitored every now and then with an ultrasound and that was about it as well as bp checks.

When I was pregnant with all my kids, that's when the problems started with high bp. I became toxemic and had c sections for all my kids.  My first pregnancy I miscarried. My second pregnancy I had a twin pregnancy and carried them to 36. 5 weeks which is pretty damn good for twins. My bp went as high as 219/120 after they were born. I am lucky to be alive and so are all my kids. With my son, I had to go on bp pills. He is autistic and I sometimes wonder if my bp pill caused his Autism although I really do not know. It may not have any relation......

Anyways, no one ever, ever told me about dialysis. I knew one day I'd go into renal failure, yes, I was told that but I assumed I'd get a kidney quickly from a deceased person right away. No one told me about the 'in between' like dialysis and the long, ever so long transplant work up testing. Oh, I've learned so much since my renal failure on Aug. 15, 2010.  And, I still have so much to learn.....

My one twin daughter may have inherited my gene. My other twin and my son have no evidence of cysts on their kidneys and my twin that has evidence of renal cysts now (she's only 12)  will likely undergo genetic testing and have her sister included to see if this PKD has been passed down to them.  At this point, their paediatric neurologist whom we met a week ago at Toronto Sick Kids Hospital in Toronto, is puzzled as to why the one twin has evidence of this disease and her twin sister does not right now. They are identical twins.....

People ask me if my daughters should get pregnant when they get older since I was never told NOT to get pregnant and I don't know what to say.   When I think about way back then I'm very lucky I didn't go into renal failure almost 13 years ago when my kids were born.  No one ever told me not to have kids after my twin pregnancy either and I had my son. My bp did not go as high with my son because I was on bp pills with my son.

Anyways, that's my story.  It's a big mystery to me because I can't trace this disease back into the gene pool. I met my birthmom 10 years ago and there was no evidence of kidney disease on her side. Oh, and she refused to tell me who my birthfather was ....that's a big secret she won't ever tell and will likely take to her grave and not ever tell me. She parted ways with me years ago and won't speak to me, I have no idea why except I think there was jealousy issues on my half brother's perspective. I'll never know.   I don't think its fair to keep that that information from a daughter/son when they know damn well one day it will cause problems one day when they get older because I told one day this disease could cause problems for me and sure enough, it did and it has.

My birthmother, years ago when we first met, she even offered me a kidney if I ever needed one and I was so relieved back then to know I might have a donor......anyways, that didn't happen.

[okarol]

It is surprising Cordelia, that medical staff didn't prepare you more for what may come in the future. But I guess it's partly because they just cannot predict how each patient will fare. My dad had high blood pressure when he tried to join the army at 18 years old, and was on BP meds sporadically until his cerebral hemorrhage 10 years later. In contrast, my 2 sisters and my brother all have PKD, but none have progressed to the point of needing dialysis or transplant, and they are all over 50 years old. They control their blood pressure, but so far have been very lucky.

Sad about your birth mom, but I hope the adoptive family your grew up with was a good situation.

 

[conchman]

So as the story goes my father had died of a cerebral hemorrhage in 1969, when I was 6.  My mother insisted that he have an autopsy and his father and mother said no way.  My mother then told them where "they could go" as she need's to find out what had killed my dad for the kids sake. This is the first our family had heard of this disease called PKD.  Funny part of the story, she never told anyone.  So now I am in my 20's, it's the mid 80's, recently quit smoking (about a year) and feel like I am climbing the walls.  Then I start peeing blood, hmmmm, I think to myself, now might be a good time to go to a doctor.  The night before my appointment I call my mother and tell her what's going on, she's says, "oh yeah you might want to tell him your father had PKD".    Maybe a little late on this one mom...So off to the doctor I go the next day, reason I am "seeing red" is my BP is off the charts.  So step one, new meds for BP, step two, go get an ultra sound to see if it's a boy or girl, well turns out neither, I have cyst's all over kidneys and liver, Yeah! Good new's is I learned fairly early and have kept BP in check for the last 20 or so years, bad news, I have one son who was born before I found out I had PKD, and we found out late last year he is also has PKD.  At least now he has a choice...

[rsudock]

HI friends sorry I was gone for a bit....I got the genetic testing back for my mom and I. OKay so here we go this is all the info I got talking to the genetic doctor in a 10 minute phone call....

Gene 4437 deletion A is the disease causing allele in Neil and I. (for the new folks on the forum Neil and I have Autosomal Recessive PKD) There is enough missing part of DNA area that is it causing our condition BUT it is an UNREPORTED mutation. Which I understood as they have never seen a our disease mutate on this allele before...so of course the university wants my family to do some sort of study...since this is a new mutation they think that is why Neil and I had a "mild" case (as the doc put it) and we were able to make it to teenage years 15/17 without needing dialysis/transplant....and yes my mom and dad both had to be carriers for Neil and I to have this. (sorry mom can't blame it all on dad) 

xo,
R

[MooseMom]

That's really interesting!  Are you and your family going to consent to such a study?  How is Neil doing these days?

[Cordelia]

It is surprising Cordelia, that medical staff didn't prepare you more for what may come in the future. But I guess it's partly because they just cannot predict how each patient will fare. My dad had high blood pressure when he tried to join the army at 18 years old, and was on BP meds sporadically until his cerebral hemorrhage 10 years later. In contrast, my 2 sisters and my brother all have PKD, but none have progressed to the point of needing dialysis or transplant, and they are all over 50 years old. They control their blood pressure, but so far have been very lucky.

Sad about your birth mom, but I hope the adoptive family your grew up with was a good situation.

 

I'm so sorry I missed your post!    That's really interesting that your sisters and brothers haven't needed dialysis/transplant yet!    That's a huge relief!

Yes,  I sure wish my neph would have prepared me more!!