Hello to all of you
I've got to say i'm really glad to have found this place after lots of intensive searching on the net about KD.
I'm an spanish nurse whose father has just been diagnosed with this disease. Its come as a shock to all of us. I'm still worried about the posibility of ALS.
I really hope to find some light in here and be of any help.
A muscle biopsy first followed by a genetic blood test was what confirmed Kennedy's over ALS for my spouse. His uncle has been under the ALS diagnosis for about 17 years now as he did not want to go through the testing. The genetic blood test was VERY expensive but frankly, glad we know for sure!
Good luck, hope it is Kennedy's.
Many thanks for your response.
My father has been done some kind of blood test that, in his neurologist words, proved to be KD. This has been the fist exam he'd taken after a electromyography.
I've heard many of you telling about how easy is to be misdiagnosed with ALS, but if a blood test it's done there're no place for doubts.
Should i trust the neurologist or should i go for a second opinion?
Many thanks, it's been ey hard to all of us
I suppose a second opinion would be one your father or a family as a whole would need to decide. If he has a proven genetic blood test, I would think another opinion wouldn't be needed but again, up to dad.
Once the shock of diagnosis starts to sink in, you may realize that KD is a long term disease which is why you could be happy it isn't ALS. My husband has KD and we were so blessed to hear it wasn't ALS. He tries to avoid colds and flu, etc. He gets a yearly flu shot, had a pneumonia vaccine and moves everyday. He feels if he doesn't move he will progress faster. Since I am not the KD sufferer, I can only tell you from my perspective.
If you can get to an MDA clinic, they will evaluate him and tell you what to do from there. Sadly, not many doctors are familiar with KD.
The DNA blood test is 99% accurate. Yes, there could be a mistake, but the CAG triplet repeat count might be wrong by one or two repeats, but not by ten or more repeats ... unless the lab made a mistake and switched blood samples with another patient.
I had a second test taken and the difference was 2 repeats (53 vs. 51). LoLo provides some good thoughts above.
I would have your dad ask for a copy of the DNA test results and see how many repeats are shown. He will probably need the results for Social Security Disability, MDA validation, or possibly some other reason.
I hope this helps.
Good point Bruce, I forgot he should apply for SS if he isn't already retired. All depends on what kind of work he is doing too. If he has a desk job, he may wish to continue working as long as possible.
My husbands' job was completely physical, moving bread the entire shift by hand. He had noticed the amount of weight he could lift was decreasing dramatically as well as a few falls at work. He than fell and broke his hip and that's when he finally agreed to all the testing. He never went back to his job, he couldn't keep up with what was required.
Just stopping by to check out what's new in here.
Have to say parents asked for the DNA test couple of weeks ago, but they were only given a copy which said 'positive for KD'. No other information was included in that report. They didn't ask for anything else either.
Hope that should be enough for dealing with the SS issues
Maria, your parents should ask for a copy of the actual DNA test results. It will show the actual number of CAG Triplet Repeats. This test will be needed as part of the documentation should you wish to prove the diagnosis at a later time.
Regarding the Social Security issues. Be as thorough and detailed as possible when completing the forms and make sure they are legible, it makes the entire process go much more quickly. :-) I believe the forms and information can be found on line on the social security website. Also, if you haven't already done so, perhaps you might want to inquire about a handicap parking permit at your local motor vehicle office. :-)
SS can be completed completely online with time and patience. If you need to take a break, you can but you HAVE to finish the section you are working on first. I did my husbands online and he got on first try. I had all testing, when, where, results, Doctor appointments, when and where as well as the addresses, names and phone numbers of everyplace he had been. I kept a calender in which I wrote everything when it happened and referenced it for the "paperwork"
Speaking of Social Security-Disability, the KDA published an information guide on ways to help gain approval on the first attempt. The link to the webpage is: SS-D Guide
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614