Genetic testing for CJD -- there's a lot to consider
I have decided not to get tested for the E200K mutation that my mother carried. This is the mutation that gave her CJD and killed her the day after her 56th birthday. I don't see a point to knowing if I am positive, though I would love to know if I am negative! Who wouldn't? But if I'm positive for the gene, there is still no cure for CJD so there is nothing I can do, no action I can take to prevent my death at this time. If this changes and there is finally an advantage to having done the test, I will have it done. Right now, I figure I have a good 25-30 years left if I am positive so there is still some time to find the answer and the cure.
I have considered having my DNA tested to find out where CJD began in our very Polish family, perhaps because I've watched a little too much Discovery Channel. But I can't do it because I need the DNA of a male related to my mother in order to find that info via a DNA test and I no longer speak to my mother's family. Yes, my mother's death by CJD tore our E200K family apart. As far as I know right now, the NPDPSC will provide genetic testing and counseling if I wish to receive it. Apparently, there's a mail order business in this now to be wary of...who knew?
posted by Heather Larson at Sunday, August 13, 2006
3 Comments:
Why did it tear your family apart? You don't think that a male related to your mother would do this if you asked them?
9/01/2006 12:47 PM
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9/01/2006 1:15 PM
The problem with my biological family is that they never wanted to discuss the genetic aspect of what happened to my mom -- you know, the elephant in the room wasn't acknowledged.
And let's see...the males related to my mom? No, they do nothing for me, they'd love to take FROM me, but they would never actually want to help me out.
Without putting out too much personal information, here is what I will say. My father and I were pretty much broke as my mom was dying and completely broke as she died and there was a lovely tax bill that needed to be paid because my mom had sold her share of the business where she worked. So basically, as my mom was dying, the IRS was all over my dad. My parents didn't make much money at all; my dad is a teacher, my mother worked in HR for a small business.
My mother's father at first refused to give my father a loan for the money he needed. Then my mother's brother got involved, and suddenly, it was we'll give you the loan BUT...and then there was stuff about 6% interest plus $25 late fees...now this wasn't framed to us in the way someone would address giving a family loan. By this time of course, my mom was dead and it was the holidays. She died November 10, 2004.
So as my father and I were struggling through the holidays, my *wonderful* uncle and grandfather were drawing up escrow paperwork that was putting up my parents' house as collateral for the loan. At no time was this ever discussed as my father and his father-in-law agreed upon loan terms. This had to be the doing of my real estate agent uncle who is always on the make and who, at that time, hadn't paid his own taxes in about five years. He's the I-will-get-something-for-nothing-while-screwing-I-don't-care-who kind of guy.
At that point, I chose to disown my uncle, grandfather and grandmother. I don't take kindly to being kicked while I'm down. Don't try to take my house from my father right after his wife has died. Don't charge us an exorbitant interest rate. And don't try to do all this while my father and I are struggling to get through Christmas and New Year's without my mother.
There were other things, too. I guess I can say now in hindsight there wasn't much of a family to tear apart. But it is funny how death brings out a lot of issues you choose not to see when your world isn't coming down around you. There were other issues that were destined to come to head long before my mother even got sick, like her sister for example. The sister is an alcoholic and was trying like hell as my mom died to bring her abusive alcoholic husband around the hospital/hospice that the ENTIRE family hated. We asked her from the first day my mom was in the hospital to leave him at home. She complied and then on the day my mom died, she verbally attacked my father about it, saying that he was preventing her from seeing her sister because she couldn't bring the abusive husband along.
My mother's brother's family chose to ignore my wishes around Christmas that year, like my very specific request that I was not to be given gifts. They gave me a gift basket anyway which contained a note that I found very irritating. They were upset about my choice for a memorial service, mostly because it fell on a day one of their softball friends were getting married...
So there were a lot of reasons why I chose to disown my family, but that is my choice. CJD will tear a weak family apart, as was the case with our family. Fortunately I have awesome friends and coworkers who took great care of my father and I, and that also proved how much my biological family fell short.
At any rate, the test to me is still pointless as there is no cure for CJD.
I sure would love some DNA from a male in my mother's family because I think it would be fascinating to trace our lineage back in time. Maybe there could be some insight we could gain, maybe we can find out how many people really died of CJD in our family and how they lived their lives. Maybe we could find a commonality...then again, maybe not. There is no guarantee. And such is the journey of CJD. We are constantly working to find answers, constantly trying to understand what has happend to our loved ones, and in my case, what may happen to us someday.
CJD changes you forever, whether you are dealing with genetic aspects or not. I have found it has torn many families apart. Some it has brought closer together. It depends on the strength of the individual family, I believe.
I have kept that in mind as I have created a new family, which is mostly a family of friends who took me in. I also still have my father, who has indeed remarried into a wonderful family. I am very much like my stepmom's mother so she feels like my REAL grandmother and that is a wonderful thing to have. So you do move on. You do heal. I have a great stepmom, so I can't complain at all. My boyfriend's family absolutely adores me and has taken me in as well. I have learned the hard way your real family is the one you create. Who it contains is up to you. I denied the negative forces in my life and have only wonderful people surrounding me now. Of course, I can't forget my biggest family of all, the CJD families around the world. Incidentally, that does contain my biological family. So whatever I do to help this cause still helps the people I grew up with. My cousins' kids may not ever hear about CJD growing up and they may never know the danger they are in as they age, but maybe we find the answer before then. Maybe they never have to know the pain I have known. And that would be a beautiful thing worth every effort.
9/01/2006 1:18 PM
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