I Hate Dialysis Message Board
Dialysis Discussion => Dialysis: General Discussion => Topic started by: okarol on June 14, 2008, 10:08:11 PM
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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. I recently read "historical references to PKD can be found at least as early as the 15th Century, and the genetic basis of PKD was first suggested by Steiner in 1899" but my family seemed clueless. We are not even sure who passed it on to my dad, as his own father died at 31 years old from strep throat. I guess it's possible that my grandfather had PKD and never knew it, but wouldn't his family have an idea that there was kidney disease at some point? My dad's mother lived to 84 years old, and was pretty healthy all along. But I have been told that it's possible to live to an advanced age and never have had the cysts progress to a level where they ever cause symptoms. Is this why some generations pass on this disease without ever knowing? I also read "Dominant PKD: It is one of the most common single-gene disorders in humans, affecting between 1 in 400 and 1 in 1,000 individuals worldwide." Yet it still seems to be a surprise to many people when they are diagnosed. And we still seem to know so little, when you consider "The molecular genetic mechanisms of autosomal dominant polcystic kidney disease (ADPKD) were clarified in the mid-1990s with the discoveries of two genes, PKD1 and PKD2, that when mutated give rise to ADPKD..."
My dad had one brother who did not get PKD (as far as we know, he died at age 78 a few years ago, of a heart condition.) My 2 sisters and my brother have PKD. Two nephews have been diagnosed, but the other 8 cousins have not been checked. It's sad to imagine perpetuating this disease and passing it on to future generations.
I would like to hear other people's experience, how far back in your family was PKD recognized? How many family members have it now?
I hope someday there is a cure.
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Okarol did you write this article? Lord, I hope not.
PDK- grandfather
mother
me - not twin and not big sister and none of my cousins have it
stasie--- and Missy my two daughters are PDK+, we do not know about Allen, he is 18
Trasie--- grandchild has PKD, new baby boy - we do not know yet, nothing seen on sonograms as of yet
I also had my mom's hole in heart---- had surgery as a child
when having fertility problems , I was told some people have PKD and never know
my grandfather was the first generation to come over from Germany, sometimes I wish he would have stayed in Germany and kept the disease there
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Yes, I wrote that - it's my father's side of the family.
When did you learn your grandfather had PKD twirl?
I didn't know about the heredity factor until after Jenna was born. But I did ask a doctor about the chances of my having it, and about the choice to have more children. He said it may never develop to the degree my dad had it (super high blood pressure from age 18 to 28, never really treated, causing the aneurysm) and that it was possible to live a full life with it. Little did I realize what that could mean. Luckily my 2 sister and my brother are doing ok, they control their BP and still have kidney function, and they are 54, 52 and 46 years old.
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I found this today: (from http://www.pkdcure.org/tabid/590/Default.aspx)
How come I've never heard of PKD before? Is it a new disease?
In the 1700s and 1800s, PKD was often given the label of Bright's disease. This term encompassed any of several kidney diseases marked by high concentrations of protein in the urine. Today, we know that many of the cases of Bright's disease were actually cases of PKD. The first documented case of PKD dates back to Stefan Bathory, the King of Poland, who lived from 1533 to 1588.
In addition, the PKD Foundation is the only organization in the world that focuses on PKD and it was not formed until the mid-1980s. It wasn't until fairly recently that PKD has gained some momentum in raising awareness and funds for the disease.
Another reason many have not heard of PKD is because it is an “internal disorder” — meaning that it does not have a dramatic affect on a person's outward appearance. A person living with PKD may have pain or trauma on their internal organs, yet they maintain a very “normal” physical appearance that does not attract attention or compassion from the unknowing public.
Do all patients within a family suffering from ADPKD develop renal failure at approximately the same time in the course of their disease?
ADPKD is a disease in which individuals within a family can demonstrate a wide range of disease severity. Sometimes there are three generations of individuals alive: the grandparent is not on dialysis, doing well, while their offspring have reached ESRD or dialysis and their grandchildren are found at birth to have advanced disease. This suggests that other genetic or environmental contributions besides the inherited gene are important with regard to progression of renal failure in ADPKD. These contributors could be other unrelated genes, or environmental factors or other second-hit processes (mutations in the good copy of the PKD1 or PKD2 gene) that affect the kidneys in these individuals.
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Okarol, my dad was the first in our family with PKD. Both of his parents lived to ripe ages (late 70s and early 80s) without any hint of kidney issues, so we assume the mutation begain with Dad. He was diagnosed in the late '70s and was already fairly far along with the disease's progression at that point. He had his first kidney transplant in 1981, at the age of 40.
At the time, there was no discussion of the genetic nature of the disease. It wasn't until the late 1980s, when I was diagnosed with ovarian cysts, that a lightbulb went off in my mother's head and she insisted that my brothers and I all get screened for PKD. Luckily, I am the only one of my siblings with PKD.
Of my two sons, one has been diagnosed (by accident -- he was receiving an abdominal ultrasound for something unrelated) and the other has not been tested.
I am now at the age my father was at the time of his first transplant, and my PKD is progressing much more slowly than his did. I attribute this mainly to lifestyle factors -- since Dad didn't know about the disease early, he didn't make any changes (such as quitting smoking, caffeine, and animal proteins). I've never been a smoker and quit caffeine almost 20 years ago, so I figure that that has played a part in my disease's progression. I've been off animal proteins for a couple of years, now, as well. Don't really know whether that's helping, but it can't be hurting! Dad was a pack-a-day smoker and drank plenty of black coffee. Who knows how much any of it contributed -- medical research has quite a ways to go with this.
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Just a note from the history of science: Right up until the beginning of the 20th century "Bright's Disease" was used as a generic term for ALL renal disease of non-traumatic etiology. Generally over time there has been a tendency to move from naming diseases not after the first person who accurately described them and instead according to a more accurate medical characterization based on the Latin or Greek terms which describe the pathological changes or disease mechanisms involved. Thus Addison's Disease has become adrenal insufficiency; Bright's Disease has become renal failure; Cushing's Disease has become overactive adrenal activity; von Recklingshausen's Disease has become neurofibromatosis, etc. There are still a few notable hold-outs, however, such as Bell's Palsy and Alzheimer's Disease.
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I had PKD...what role it had in my renal cancer, who knows, but it couldn't have helped.
Not sure which parent has PKD...my dad had a long history of kidney stones and had many tests and no one said anything, but he's still my odds on favorite. Mom's never had a problem with kidneys to speak of and we don't think my brother has it.
I know the PKD Foundation is funding some very good research so maybe they can make a dent in how this is treated, because now the only thing treated are the symptoms.
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we are not sure where my pkd came from, dad died 14 years ago from a heart attack, he was a diabetic had lots of scans over years and nothing was ever picked up, when i found out 8 years ago mum and my brother and sister were tested but lucky they were clear, but both my sons have it which pisses me off i would really hate them to do dialysis but who knows they might be lucky and escape it.
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PKD has never presented in my family apart from myself. Although there are other members of my family on my father's side who have simple cysts on their kidneys. Is it possible that simple cysts can mutate over a gerneration to polycysts?
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The known origin of PKD for my family came from my paternal grandmother who died in her thirties of a brain aneurism apparently associated with PKD. I've been told her father died of "Brights Disease". My father was 16 at the time of her death.
I have been aware of PKD since my father was diagnosed with the disease in 1957.
The following members of my family have or had PKD:
Father, died at age 48 with kidney failure in 1965.
Uncle, died at age 68 with kidney failure.
Brother, died at age 64 in 2006 after 2 years on PD and 4 years on Hemo.
Cousin, still going strong after a kidney transplant more than 20 years ago now 66.
Me, kidney tranplant in 2006.
My daughter has PKD and is doing okay for now. My son does not appear to have inherited this disease. Overall the disease appears to be following the 50% probability of inheriting this disease for each child for each parent who has the disease. There have been no instances of PKD in any of the children of those not having PKD themselves.
My daughter has three children so I am of course concerned about her health and that of her children. Hopefully her children will beat the odds and avoid this disease.
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While I am certain that living an unhealthy life invites problems, genetic diseases are genetic diseases. For many the dice have already been rolled. My husband has PKD and has taken good care of himself for as long as I have known him.
As noted in the text Karol excerpted below, members of the same family may exhibit different timelines of symptoms. My father-in-law was diagnosed with high blood pressure, likely due to PKD, when he was in high school. His mother died early, before he graduated from high school, of a brain aneurysm which was almost certainly due to PKD. My father-in-law was on the high school track team and then went on to seminary and became a minister. He didn't drink much except an occasional glass of wine or beer and didn't smoke. He ran many miles a week most of his life with his blood pressure under control by meds. By the time he was 50 he was on dialysis. At 52 he had a transplant. He died of a heart attack at 59 with his transplant functioning well. The heart attack may have been made more likely by health characteristics inherited from his father's side of the family. His older sister didn't have much in the way of symptoms for most of her life. She did not go on dialysis until she was in her mid 60s. She is still on dialysis in her mid 70s.
My husband's PKD progressed on a course remarkably similar to his dad's. My husband's younger brothers, one who was a vegetarian for much of his life, and who is extremely health conscious, meditates, does yoga, and does not smoke, and the other who was much less health conscious are both now beginning to lose kidney function. They both seem to be on courses remarkably similar to Stephen and his dad. We don't know about our next generation of kids...
Also, just for clarification, when they state that a child has a 50% chance of inheriting a disease, it does not mean that 50% of the kids in a family will inherit the disease. It means that 50% of the kids in a population (for example, the population of the US), that have a parent with the disease, will inherit the disease. (Think of tossing a coin - you have a 50% chance of heads, but you might get heads 5 times in a row every once in awhile).
I learned about the PKD Foundation when I read a newspaper clipping that I found on my father-in-law's desk after he passed away. They are working hard to educate the public about this disease, which is more common than many other genetic diseases you have heard of such as cystic fibrosis and multiple sclerosis. PKD affects most people when they are middle age or older -- this may be why many of us have never heard of this very common disease. The PKD Foundation site offers much information on the disease, summaries of current research, diet recommendations and more. http://www.pkdcure.org
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Insert dumb question here...
I don't have PKD, is this the most common type of KD?
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Looks like PKD (cystic kidneys) accounts for less than 5% of all ESRD in the US:
from the US National Institutes of Health (http://kidney.niddk.nih.gov/kudiseases/pubs/kustats/index.htm)
End-stage Renal Disease (ESRD)
Prevalence (2005): 485,012 U.S. residents were under treatment as of the end of the calendar year.
Resulting from these primary diseases:
Diabetes: 179,157
Hypertension: 117,438
Glomerulonephritis: 78,345
Cystic kidney: 22,458
All other: 87,614
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Insert dumb question here...
I don't have PKD, is this the most common type of KD?
From The PKD Foundation http://www.pkdcure.org:
Polycystic Kidney Disease (PKD) affects 600,000 Americans and 12.5 million children and adults, worldwide. ADPKD affects more people than Down syndrome, cystic fibrosis, muscular dystrophy and sickle cell anemia combined.
Autosomal dominant (ADPKD), is one of the most common life-threatening genetic diseases. ADPKD affects between 1 in 500 people. It does not skip a generation. There is usually a family history of ADPKD. Parents with ADPKD have a 50 percent chance of passing the disease on to each of their children.
Although ADPKD is an inherited disease, not all patients progress to end-stage renal disease in their lifetime.
Approximately 50% of patients will begin dialysis or require a transplant in their sixth decade of life.
From the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health:
In the United States, about 600,000 people have PKD, and cystic disease is the fourth leading cause of kidney failure.
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While I am certain that living an unhealthy life invites problems, genetic diseases are genetic diseases. For many the dice have already been rolled. My husband has PKD and has taken good care of himself for as long as I have known him.
Pelagia, I hope I didn't imply in my post that my father's PKD was attributable to lifestyle factors -- I certainly know that PKD does not discriminate! However, my PKD has not progressed as quickly as my dad's, and I often wonder whether his smoking and excessive caffeine intake served to hasten his progression (as compared with mine).
When my creatinine started to rise, I immediately stopped my ocassional caffeine intake and reduced the animal proteins in my diet to almost nil. That was in October 2005, and since then, my creatinine has only increased by .25. So I think (hope!) that the dietary changes are having some affect in slowing the progression.
I'm sorry if I wasn't clear in my original post. : )
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You are definitely doing the right thing to take good care of your health and pamper your kidneys. It can't hurt and might help.
For as long as we have had good access to the web, we have tried to keep track of the thinking on diet and PKD. I never found much that was very compelling except the advice to maintain a healthy diet (healthy carbs, low fat, some protein), limit salt, avoid caffeine and alcohol. There was some research going on about soy products, and we are soymilk drinkers, but I haven't followed any of the most recent developments. Once my husband moved into ESRD and dialysis, the dietary guidelines were pretty well set by the docs. For the others in my family I am doing what I can to support research for a cure, or at least a treatment that slows the progression of this disease. Until that happens, it would be great if the research community could find dietary or other factors that slow down the progression of the disease.
I know there isn't an "average trajectory" for anyone with PKD, but here is my husband's trajectory in case anyone is interested in how it was for one person with PKD. Between 1988 (age 32) and late June 2002 his creatinine went from 1.1 to 1.9. At that point his kidneys started getting noticeably larger as the cysts (we presume) started to proliferate or grow faster. Many folks thought he was getting a beer belly, but we knew better. His creatinine jumped to 2.6 by September 2003 and had tripled by late 2007.
When my husband went for the all the tests prior to being listed for his transplant, the docs told him that aside from PKD and the accompanying high blood pressure, he is in incredibly good health. This means faster healing and more resilience overall. So, I completely agree that taking care of our health is really important, especially since we never really know what we might have to deal with.
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Pelagia, thank you for sharing your husband's trajectory with PKD. I'm astonished that after 4 years of relatively slow progression, that he had such big jumps in creatinine between 2002 and 2003, and through 2007. I've been assuming (with no real basis, mind you!), that my rise in creatinine would more or less follow a smooth curve (it's been about 2/10s of a point on average every 2 years or so). I guess I shouldn't be so complacent....
You mention that your husband has high blood pressure. I hope that his doctors are treating that separately? My nephrologist has told me that leaving high BP uncontrolled can actually hasten the decline of the kidneys.
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My husband has been on blood pressure meds since his mid-20s. And yes, absolutely, keeping the blood pressure under control is very important. In the distant past his docs aimed for keeping his bp below 140/90 and then about 5 or 6 years ago (or maybe it was longer ago than that) they started really working to keep it under 140/80. Unfortunately, as his kidney function went down his blood pressure became more and more difficult to keep below 140/80.
The great news is that post-transplant he is having to drop out some of the blood pressure meds in order to keep his bp above 100/60! He likes subtraction much better than addition when it comes to meds.
As far as the PKD trajectory goes, it was 14 years, not 4, of slow progression (1988-2002). Not sure if that was a typo or mis-read.
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As far as the PKD trajectory goes, it was 14 years, not 4, of slow progression (1988-2002). Not sure if that was a typo or mis-read.
Thanks for pointing that out -- that was me reading your too quickly. :oops;
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so I found out in college that I had PKD and was not concerned---- was told sometimes you die and never know you have it---had ten years of miscarriages and told every doc about the disease----- never seemed to be a big deal-------- little, did I know------ I was so focused on having a baby, that is all I could think of------my children have a 50/50 chance, or so I have been told
my second child, Missy, was born with a diaphramatic hernia which is devastating and she is lucky to be alive with one lung, my grandfather was the first generation to come from Germany when he was an adult------- sometimes I find myself wondering if we ever married our kinfolks down the line somewheres, my mom and I have both had heart surgeries
I was only tested in college on account of my mother finding out she had it
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When you found out about having PKD in college didn't you immediately go to the library and read all about the disease and its genetics? I can't imagine getting a diagnosis like that and not wanting to know everything about it.
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I lived thru a god-awful childhood by learning to live in denial, so I let it go. I am not saying I am proud of it, it is just what I did.Denial can become comfortable and unthreathening. Had I had a normal or more normal life, I am sure I would have made a better choice. I knew when I wrote about this you would have a comment. But oh well, can't worry about what you think, I feel bad enough on my own for having children and continuing this shit, on the other hand, I can not imagine life worth living without my children. I let myself skip over the dreading of PKD when doctors made no big deal out of it when I was trying to have children. The opinions seemed to be sometimes you do; sometimes you don't. I wanted to believe don't. I know it was wrong. What should I do ? Shoot all myself and all the family members I have contaminated? Rid out the weak? I worry about your comments, you seem so intelligent to me but where is your heart?
In the year I found out about this PKD there was no hope unless you were rich. Noteveryone got dialysis.
I worked with very troubled students. I would tell them to remember their childhoods and the way they were treated and to do better for their children. I accomplished that only worse, I gave my children GD PKD which I did not understand and I could have stopped it but I chose to bury my head in the ground and pretend of think everything would be okay. Yes, I am a monster, I undestand that. I don't decide who gets the death card------ my sisters did not get it or my cousins---- so am I like the omen? I hadhope, which I know now know is not enough.
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Twirl, I sent you this on another thread, but I am going to post it here on this one because this is a PKD thread that someone might come across looking for information.
"I hope you know that they are running a number of drug trials for PKD therapies. We all need to keep hopeful that they are going to find treatments for PKD before it has a chance to cause kidney failure in our kids.
Here's a link for info on the pkd foundation site about drug trials:
http://www.pkdcure.org/tabid/142/default.aspx
and one of the many articles on the web about some of the latest findings that offer hope:
http://www.healthcarerepublic.com/news/PHARMACIST/817576/RA-drug-offers-fresh-hope-polycystic-kidney-disease/
These articles are a little dense to read, but they all point in the same direction. Hope!"
And another thing we should not forget -- Hindsight is 20/20. Let's all remember that we did not get most of our information with the push of a button even a decade ago. I once sent a letter requesting an information packet on PKD from one of the big kidney organizations and never got anything back. I remember reading about PKD in the Encyclopedia Brittanica during the early 1980s and I don't remember that the information was especially enlightening. Things were not like they are now in terms of having incredible information at our fingertips.
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Twirl, please don't beat yourself up over past history that is just that...in the past. It is very easy to hear what we want to hear especially around things that are difficult and hard to accept. Denial can sometimes be very functional and sometimes it isn't the best way of coping. Whatever, but it doesn't make you a monster, not even a little bit in my book. It makes you a human being and as human beings we are often blinded to certain realities by our biological or emotional urges. Hindsight is 20/20 and life is a risky business.
We love you Twirl, you're funny and honest and real. I don't even know you personally but I'm glad you're on this planet and that I have a virtual friendship with you through IHD. Your absence would be our loss.
By the way, I don't think that Stauffenberg is heartless. I think he's a very analytical, statistically-minded person and I think he's probably highly ethical and altruistic in fact. Academic training may be responsible for the way he writes as academic writing is by its very nature quite impersonal as it seeks to be objective and rational rather than subjective and emotional. I want you both here and part of my world.
:cuddle;
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Yeah.. what Monrein said. She's so smart.
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.
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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.
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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
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O'karol
thank you
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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!
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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.
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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
..................
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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.
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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.
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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.
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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.
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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!
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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?
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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
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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. :thx;
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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.
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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! :rofl; (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
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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."
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i think there is much more research to do on PKD to understand the genetics of it...it is all so confusing...
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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.
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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.
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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.
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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!
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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.
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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
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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.
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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
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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!!
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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. :cuddle;
I am so sorry for everyone effected by PKD.
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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.
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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.
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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.
:waving;
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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". :banghead; 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...
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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) ;D
xo,
R
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That's really interesting! Are you and your family going to consent to such a study? How is Neil doing these days?
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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.
:waving;
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!! :(