The E200K Cough
I've met a couple more E200K folks like myself via CJD Voice/friends who attended the CJD Family Conference in DC this month. I'm still struck by the dry, persistent cough seen in E200K patients. My mom had it, and the more I communicate with others who have E200K families, I am finding the cough is extremely common as is the quick death. I know I'm hardly Stanley Prusiner, but I think it's safe to coin a term here -- "The E200K Cough." Show me one E200K patient who didn't display the dry persistent cough in the months and weeks leading up to their death.
posted by Heather Larson at Saturday, July 22, 2006
6 Comments:
Hi Heather! Its Tracy, new member at CJD voice message board, what a great site you have here. Can you explian what this E200K Cough is? Thanks!
8/04/2006 4:54 AM
Hi Tracy! I'm so glad you found CJD Voice and this blog. The "E200K cough" as I've coined it, is a dry, persistent cough seen in patients that carry the E200K mutation of CJD, like my mom. My mother had this very persistent cough months before she ever displayed CJD symptoms like gait/balance problems and myoclonus.
This cough was no normal cough; it didn't stop. It was annoying. I used to get on my mom's case and I'd ask her to have a drink of water because it was like she just couldn't stop coughing. I don't even think she realized she was doing it. She dismissed it as allergies. Then when she started having vertigo not long after the cough appeared, she dismissed that as a sinus infection...and on and on we went until the balance and gait problem kicked in. That's when we started to realize it was something neurological.
I've talked to a handful of others who share the same E200K mutation we do, and I have found with each family, the dry, persistent cough is present and the duration of the disease is only a few weeks. I can't think of one E200K family I've talked to that hasn't had to deal with that cough!
There is so much more to this disease than meets the eye. It's no wonder doctors and researchers have remained baffled for much of the last 100 years.
8/04/2006 10:43 AM
Weird! As I said that was my Mom's first symptom way before others. It was annoying, I remember my stepdad and I making her get it checked out. Nothing came of it....she was told virus, or acid reflux etc... So is the E200K found after death at autopsy? Would be interesting to see if she too has that mutation. Though would that mean I too would have a chance of having that mutation or my children? You have a great site here, thank you Heather!
Tracy
8/04/2006 3:58 PM
Yes, nothing came of my mom's annoying cough either. I think it sort of faded away and we didn't notice. By the time it was gone, there were other problems. I have been wondering if there is such a thing as a "neurological cough" as there is a neurological fever? But that cough is definitely an E200K thing, as far as I've found out so far.
I did do a questionaire with Tracie K. of the CJD Foundation and she said a certain percentage of the patients experienced a dry, persistent cough. I believe it was 10-15% of cases.
And yes, we found out about my mom's E200K mutation via the autopsy done by the National Prion Disease Pathology and Surveillance Center (NPDPSC) at Case Western in Cleveland, OH. here is the link to the NPDPSC. You can call them if you wish to do an autopsy on your mother. All you have to do is fill out about a page or two of paperwork. They will coordinate the rest for you. I had a hell of a time getting my mom's autopsy done. She was dying so very fast I almost missed my chance to get the autopsy done. By that time, we knew of one other death in the family; at her memorial we learned of another. So we have three total in the family that we know of, including my mom. She is the only one I have autopsy info on.
Barrow Neurological Institute refused to do the autopsy on my mom because the NPDPSC hadn't paid some bills to BNI. The bills were for instruments to be destroyed post-autopsy. In the end, I managed to get BNI to agree to refrigerate my mother's body for 48 hours after her death until the New Mexico Coroner's office came to pick her up. So my mom made a posthumous journey to New Mexico and back. I identified her body at the funeral home after her return from New Mexico, the closest place that would agree to perform the autopsy. The funeral home was very cool with us about it.
The NPDPSC took care of getting New Mexico on board. I have no idea if BNI has had trouble since. I don't personally know any CJD families who have gone through BNI since us, though I do know BNI sees a few cases a year. I know of one that came before my mom that my mom's neurologist told us about while we were there.
Here's how the E200K mutation works; if your mom carries the mutation, there is a 50% chance you carry the mutation as well. If you do in fact carry the mutation, you have a 100% chance of developing CJD.
Don't despair though and don't change how you change your life. There is much promising research going on and I'm pretty confident we have a chance of living long and happy lives. We do have a chance but we have to make people care about this disease. We have to make pharmaceutical companies care about what we're dealing with here, which is so difficult because CJD is still thought of as this "rare" disease, which it most certainly is not.
Now, those of us with the familial CJD are the rarest of all. We account for a very small percentage of CJD cases. Most cases are sporadic, meaning we have no idea where the disease was contracted, though I'm willing to bet the farm sporadic patients are getting it from an animal source. Don't freak out until you get your mom's autopsy back if you choose that route. I have seen cases where we were all certain a patient had CJD where it turned out in the end to be something else.
I've got a friend in Canada whose family carries the gene for GSS, another genetic prion disease. His mother died of it and his brother is dying of it right now. He changed his whole life because he was afraid he carried the gene. He decided not to follow a dream, he didn't save for retirement, he didn't date...and finally one day, not knowing his genetic makeup got the better of him. So he got tested for the gene. He doesn't have it. He's going to live a long life. He won't be dying like his mother and brother did.
So the best we can do is live our lives well, as though we have 50 years or more left to go. I will get married, I will save for retirement, I will have kids, I will have my career and not do anything stupid. I will enjoy life. But I refuse to be tested because if I'm positive, nothing can be done right now. There is no use in knowing I'm positive if I am. And if I'm positive, I worry about being discriminated against for life insurance, health insurance and dental care. I've heard horror stories about that.
8/04/2006 6:02 PM
Heather.....you are a blessing and doing your mom proud I'm sure. Thanks for all great info and perspective, I am greatfull. I hope you don't mind me asking so many questions. I just want to take in as much as I can, so I can be informed and inform others.
Warm Regards,
Tracy
8/04/2006 6:39 PM
Tracy,
You can ask as many questions as you wish! That's what this blog is here to do; answer questions and inform others about CJD. The goal is to get plenty of CJD families interacting on here so we can show how many of us there really are and what we've all had to endure.
Each person's story is its own separate hell. None of us should have to watch our mothers die like this. We need to work together to find a cure. We also need to make sure doctors are better informed than they are. Through this worldwide network we have going, we'll be able to share tips with each other so that the next people walking down the road we've already walked down won't have such a difficult time.
Your family is in my thoughts and prayers,
Heather
8/05/2006 2:29 PM
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