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Registered: 08-02-2012
Posts: 6
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Hi,

I just joined the forum and wanted to introduce myself. My name is Christie. I live in NYC and I am dating a guy (seriously) who has KD. It was on our second date that he mentioned that he had KD. Ever since, we've gone through many emotional phases of tears, laughter, and strength. He, too, was misdiagnosed with ALS at first and for the month and a half, his life was rock-bottom. He shares his story with me now laughing and says that once he found out that it was KD, he actually was relieved and happy! He is pretty optimistic and hopeful. He goes to NIH once a year and I went with him this year (his second year visiting). A lot of the information were standard and promising but again, no guarantees on medication.

I guess I joined here for moral support as well as some guidance/advice on what to expect. I know we both have a long road ahead of us, some challenging I'm sure. He's 38, stays active and lives a full life.

I look forward to getting further information and support from this site. Thank you in advance for the open forum.

On a side note, could someone also let me know where the monthly chat room (I think I saw someone mention this) is?

Have a wonderful day!

This message has been edited. Last edited by: CKNYC,
Picture of Lolo
Location: Arizona
Registered: 10-06-2010
Posts: 108
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Welcome! You have come to the right place. I have found a lot of answers myself from the others here.

I am the wife of a KD affected man, we had no idea when we married that this disease was even in the family. I'm glad you are staying with your boyfriend, he deserves a good woman to stand by him and support him.

Is life with KD easy? No, it isn't. Would I marry my spouse again knowing this? Yes, I would. Our men will deteriorate over time but other than that, they are the same as anyone else. They need love, support, understanding and sometimes extra help.

I hope you find all the support you need here!
Picture of Bruce
Registered: 09-28-2005
Posts: 654
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Christie, thank you for joining the KDA Forum. Between this forum, the KDA website and my blog (Living with Kennedy's Disease http://kennedysdisease.blogspot.com/) there is a tremendous amount of information available including links to other helpful resources.

Reference the chat room ( KDA Chat Room) follow the link to see the schedule and how to log in.

Should you have any specific questions, please doon't hesitate to ask.
Registered: 08-02-2012
Posts: 6
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Hi,

Thanks for your support and responses. I've been inadvertently neglecting this forum between travels and work. Apologies.

Things for me seem to be sometimes scary and conflicting. It's been only several months of dating...and often, I wonder about life's paths and am forced to think about things that I normally wouldn't have to quite yet. Sometimes, I wish I had more time to think about things.

But with that being said, things are good and I think I am with a great guy. I am honestly uncertain at times and afraid of what I should expect and can manage. I do want to be supportive of him, however.

Could someone possibly share with me what I can expect in the coming years? What will his 40s? 50s? and 60s be like?

Also, I have questions about fertility as well. I'm 35 and to me, having children is extremely important. I wonder if this is something I need to also address or consider...?

I know there have been clinical trials in the past. Does anyone know how many clinical trials there has been? I know there was one prior to the ones pending right now (ASC-J9 and IGF-1) but were there many others?

Sorry for the many questions. Any information would be great.

And Bruce, thank you for the websites. I actually visited NIH and gathered information at the research center, which I suggest people do if they would like to be informed on news and research updates. It's easier to reach out as a patient. Angela Kokkinis: akokkinis@mail.nih.gov can provide you with information and I also think the center appreciates having more Kennedy patients for information and research. Hope this is somewhat helpful! And I look forward to hearing from you.

Thanks.
Christie!

This message has been edited. Last edited by: CKNYC,
Registered: 05-07-2007
Posts: 46
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HI Christie,

I will give my 2 cents on some of your questions. With regard what to expect, there probably is no perfect answer. It varies on the individual. Some men are in wheelchairs in their 50's while others are quite active into their late 60's. You have probably heard that the rate of progression is related to the CAG count, but I find that this is quite variable and is not a reliable indicator. I found it helpful to actually meet other men with KD - this is easy to do at the annual KDA meeting (shameless plug!!).

With regard to children, you should visit a genetic counselor. Having said this, a man with KD passes the mutant form of the gene to all of his daughters and none of his sons. Thus, all daughters will be carriers and none of the sons will have KD.

There have been two published clinical trials (Leuprorelin and dutasteride). There is currently an exercise trial.

Good Luck!!

Ed
Registered: 08-02-2009
Posts: 195
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Hi Christie,

I recommend reading from Bruce's blog the following stories, which are well-written and may address your "what-to-expect" question:

The Natural History of Kennedy's Disease

The Clinical Features of Kennedy’s Disease

A Natural History of Kennedy’s Disease Revisited
Registered: 08-02-2012
Posts: 6
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Thank you for your responses! I really appreciate the references and have read them through. I've done a ton of research already though at times, I am still puzzled. But I also realize a lot of queries will remain unanswered until further research is found.

I think the CAG repeats are pretty high for my BF (50) and as such, the onset of symptoms was probably earlier than most. Also, he was a runner so I think he detected a change early on. I'm wondering how the progress has been for most people on this forum.

Does it peak, then steady out for several years? What are the terms for progression? Or is this really case by case?

My boyfriend seems to be one of the younger KD cases. The only thing I notice is he has body fasciculation when he sleeps and finds going up stairs "uncomfortable" but is able to. Slight fasciculations on his face but comes and goes.

We just remain hopeful and active as possible.
Please let me know when you can.

Thanks in advance.
Picture of Bruce
Registered: 09-28-2005
Posts: 654
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My CAG number is 53. I began noticing hand tremors in the late 20s and slight weakness in the legs in early 30s. I was always active (several sports + hiking + biking).

From my experience there is no roadmap for when symptoms start, what happens when and onset.

The key is to keep the motor neurons stimulated (not over-stimulated, however). The quads are especially important. Even though I am 65, I still exercise every day (heavier one day and lighter the next). It has made a world of difference for me. Also, keeping my weight down has been helfpul

Fasciculation and cramping are a part of the process. Cramping eventually went away for me (a blessing).

My experience with the progression has been one of 'a slide' then 'hitting a plateau'. The slide could occur over several days and then the plateau might last for weeks. Again, I think everyone is a little different.

Since I started using Avodart (19 months ago) I have stabilized and have seen very little progression over this period.
Registered: 08-02-2012
Posts: 6
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Hi Bruce,

What is Avodart?
Picture of Bruce
Registered: 09-28-2005
Posts: 654
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CKNYC, Avodart is the brand name for dutasteride. There was a clinical trial using Avodart a few years ago and the results varied and benefits were not shown to be significant (5% improvement or greater). Avodart is taken today by several of us living with Kennedy's Disease. It seems to be helping a percentage of us by slowing the progression. Do a search on my "Living with Kennedy's Disease" blog and you will see the actual clinical trial results plus my experiences over the last 19 months.

Should you have other questions, please don't hesitate to ask.
Registered: 08-02-2012
Posts: 6
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http://www.bloomberg.com/news/...-pinpoint-risks.html

A positive article on the progress of stem cell research and hopes for other therapeutic uses...such as regenerating muscle tissues.
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