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KOK Edit: your favorite copyeditor since 1984(SM) KOK Edit: your favorite copyeditor since 1984(SM) Katharine O'Moore Klopf

Friday, September 28, 2007

Genes Can Really Mess Things Up

It’s a little gray outside today. It matches my melancholy.

Becky, my sweet daughter, sent me a text message at about 10 last night: “R U up?” I e-mailed back, “I R. What up?” Thirty seconds or so later, my phone rang. She had bad news: Her father, my ex-husband, had just called to tell her that he needs a kidney transplant within the next 18 months or he will die. He is just 49. He has a wife and two other daughters; the girls are about the ages of my two sons, who are 6 and almost 13. I imagine they're rather worried right now.

He has
polycystic kidney disease (PKD), just like his sweet mother, Kate, who died at 71 because of it on May 25. On top of that, he has had rheumatoid arthritis since childhood. PKD is an insidious disease in which multiple fluid-filled cysts grow on the kidneys and slowly replace much of the kidneys’ mass, decreasing kidney function more and more until the kidneys shut down. Often, people who have PKD develop high blood pressure because their kidney function is reduced even before any cysts appear on their kidneys. My ex has had high blood pressure for years. He hasn’t talked with me about his situation, but from what I’ve read, if his physician is talking transplantation, his kidneys must be in poor enough shape that dialysis won’t help him. If a matching kidney donor can be found, the new kidney or kidneys won’t develop cysts.

Though I wish him no misfortune and don’t want him to die, what saddens me is the thought that because Becky is so much like him physically—down to the location of her rheumatoid nodules—it’s very possible that she will face PKD one day. Because her father has it, she has a 50% chance of having it. I’m talking about a 24-year-old woman who’s just become a mother, hasn’t been married very long, recently earned a master’s degree, and is looking for her first professional job. She already has plenty of pain from her rheumatoid arthritis; she doesn’t need anything more on top of it.


Anonymous said...

I am so sorry about this. One thing I have learned over the years is that nothing is fair. Or, maybe more truly, the randomness of such events is the evidence that things ARE fair.

My father was very ill long ago, and so was my cousin, his brother's only daughter. The two of them used to talk on the phone from time to time. My cousin was always crying the blues, "Why me?" My father, on the other hand, said, "Why NOT me?"

By this he did not mean he deserved to suffer, just that of anyone in the world he did not consider himself sufficiently special that he'd been picked out or chosen for his experience. He was an amazing person and I am glad he was my father.

My cousin, poor girl, was locked in to her mind set.

None of this is directly about your family, Katherine, but times like this can expand every person willing to expand. I wish you all well.

Christine said...

I can completely understand all of this. My mother-in-law has PKD, as well as her mother who recently passed, and two of her siblings. I just found out that my husband (24) has it, as well as the next two sisters (22 and 20). His mother is devastated because so far it's hit every child, and there's still 6 more to go. Thanks for adding the additional info on PKD...so many people don't know about it, and the Autosomal Dominant type (vs. Recessive) affects more people than Down syndrome, cystic fibrosis, muscular dystrophy and sickle cell anemia combined...one of the most common genetic disorders.

Anonymous said...

I know a little bit about autosomal dominant genes, and I can tell you that there is no connection between physical attributes and the likelihood that the gene in question is inherited. Your children have a 50/50 chance of inheriting EACH of your genes; each one stands alone.

So don't think the worst!

Is there a genetic test for PKD?

BTW, my aunt should have heard yesterday if she tested positive for the HD gene, and yesterday was the 8 year anniversary of my finding out I was negative. Fingers crossed all round!

Bob said...

Hi, Katherine. My wife has PKD, so I can relate to the anxious thoughts of wondering whether or not one's children have PKD.

As KathyF states, your daughter has a 50/50 chance of having inherited the disease, and it doesn't matter about any of the other physical attributes she may or may not share with her dad. Also, even if she did inherit the disease, only about 50 percent of people who have PKD ultimately experience kidney failure... and that's today. There is a lot of hope for the future due to the wonderful work the PKD Foundation has been leading in terms of PKD-related research. There are clinical trials underway to determine the effectiveness of drugs which can slow the rate of progression of cyst development. If those prove successful, then the odds will be even better that those with PKD will be able to outlast their kidneys. So, there is a lot of hope, especially for those like your daughter who are not yet showing any symptons from the disease. To learn more, check out the PKD Foundation's website at http://www.pkdcure.org. There is a lot of information out there, as well as ways to get involved in PKD Foundation activities. Check it out!

Katharine O'Moore-Klopf said...

Thanks, all of you, for your kind comments.

Says the National Insitute of Diabetes and Digestive and Kidney Disease, of the National Insitutes of Health: "Physical checkups and blood and urine tests may not lead to diagnosis. ... The slow, undetected progression is why some people live for many years without knowing they have autosomal dominant PKD. A genetic test can detect mutations in the PKD1 and PKD2 genes. Although this test can detect the presence of the autosomal dominant PKD mutations before cysts develop, its usefulness is limited by two factors: It cannot predict the onset or ultimate severity of the disease, and no absolute cure is available to prevent the onset of the disease."

So I will just have to focus on Becky's health now, and she will have to be watched closely over the years by her physician.

Unknown said...

Kathy, I'm sorry to hear this.

Katharine O'Moore-Klopf said...

Thanks, Songbird. Please pray for Becky, her husband Li, and my granddaughter Ana. And pray too for my ex-husband, his wife, and his two young daughters, the oldest of whom has severe rheumatoid arthritis too. I wouldn't want either of Becky's half sisters to end up with PKD.

Stephanie E. said...

Nothing easy about this. Several members of my family suffer from myotonic dystrophy, also a genetic disease and one for which there is no treatment or cure, and we have no idea how many more of us will be diagnosed with it or will pass it on in future years. It's a constant silent worry for dozens of us. We've no idea how many of us carry the gene and just aren't exhibiting symptoms right now. As with PKD, there are people who have the gene and live their whole lives with only minor, unnoticeable symptoms, and then there are others for whom the disease is devastating. Frightening.

I'll be thinking of your family and sending them love & healing & positive thoughts.

Katharine O'Moore-Klopf said...

Stephanie, thanks so much. My heart goes out to your family too.

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