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How are you dealing with Kennedy's Disease in your life?
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Picture of Dan LADOUCEUR
Location: Sudbury, Ontario CANADA
Registered: 11-09-2005
Posts: 30
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Thanks Bruce, will look into the MDA sight and will let you know how things progress.

Dan
Picture of Bruce
Registered: 09-28-2005
Posts: 654
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New Swedish Web Site with an Explanation of Kennedy's Disease

I found the explanation below to be quite good and wanted to share it with you. The link to the site is: Kennedy's Disease .

The disease

Kennedy disease is an inherited neuromuscular disease characterised by slowly progressive wasting and weakening of the muscles. The disorder was first described in 1968 by American neurologist William R. Kennedy. Since then, some thirty different names have been used to describe the condition, including spinal bulbar muscular atrophy (SBMA) and X-linked spinal bulbar neuronopathy.

The physical manifestations of Kennedy disease are in many ways similar to another neurodegenerative disease known as amyotrophic lateral sclerosis or ALS (see separate information text in the rare disease database). However, Kennedy disease has a significantly slower progression, and it is therefore important to distinguish between the two diagnoses.

Aetiology of the disease

The cause of Kennedy disease is a mutation in a gene encoding a protein known as the androgen receptor (AR). In individuals with the disease, a section of the AR gene is unstable. This instability is due to an excessive number of repetitions of a certain DNA-sequence, CAG. Normally there are 17-26 CAG repeats in the AR gene. If there are more than 40 repeats the individual will develop Kennedy disease, and the severity of the disease will increase with the number of excessive repetitions.

Androgen receptors reside in the cell (in the cytoplasm), where they respond to signals from male sex hormones (androgens). The receptors are present in many tissues in the body, including the central nervous system and the motor neurons (the nerve cells that regulate muscle activity) in the spinal cord and brain stem. When an androgen binds to the receptor, it relocates to the nucleus, where it signals to genes that respond by increasing the production of proteins. These proteins are involved in many reactions.

Owing to the genetic mutation that causes Kennedy disease, the androgen receptor is defective and impaired but activated androgen receptors accumulate in the cell cytoplasm instead of being stimulated to move into the cell nucleus. As a result, electrical and chemical signals that are exchanged between the motor neurons and the muscles are disturbed, and the muscles atrophy. Since the cell nucleus does not receive normal signals from the androgen receptor, the effects of the male sex hormones are reduced. Sensory nerves and autonomous nerves, that control sweating for instance, are also affected.

Another mutation in the androgen receptor gene causes the androgen insensitivity syndrome (see separate information text in the rare disease database).

Heredity

Kennedy disease is an inherited X-linked recessive disorder. This means that the mutation causing the disease is located on the X chromosome, which is one of the sex chromosomes. While women have two X chromosomes, men have one X chromosome and one Y chromosome. Since the mutated gene is recessive, female carriers are protected by having a second X chromosome with a normal gene, whereas men who inherit the mutated gene develop the disease. X-linked recessive disorders are therefore found only in men, but are passed down via female carriers of the mutation. Sons of female carriers run a 50 per cent risk of inheriting the disorder, and daughters run the same risk of becoming carriers. A man with an X-linked recessive disorder cannot pass it down to his sons, but all his daughters will be carriers of the mutation.

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Picture of Bruce
Registered: 09-28-2005
Posts: 654
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934 Strong and Growing

Good Morning. These last few weeks the KDA has seen a lot of activity ... page views and new associates. As of this morning, the KDA has 934 registered associates and 68 doctors and researchers.

I feel that we can crack the 1,000 associates mark this year. Many associates who have the defective gene (including carriers) mentioned that they have other family members that have Kennedy's Disease (Fathers, mothers, a grand parent, brothers, sisters, sons, daughters, uncles and aunts). It would be great to have these other family members registered also.

One of our goals is to have the most comprehensive (confidential) database of people withe Kennedy's Disease. The greater the number the more attention it will bring to researchers and grant funders that Kennedy's Disease is a serious disease and needs greater attention. If you know of any others with Kennedy's Disease including carriers, please encourage them to join the KDA today. The link for joining is: http://www.kennedysdisease.org/join.php . Or, they can send an email to the KDA (info@kennedysdisease.org) providing their name, mailing address, age, email address, and whether they have tested positive for Kennedy's Disease or just believe they have the defective gene.

With your help, we will have a greater picture of the extent of Kennedy's Disease and its impact on families. Thank you.
Picture of Bruce
Registered: 09-28-2005
Posts: 654
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The future (robotics) is nearer than we think

There is some neat devices out there that could really help those of us with a handicap. Check out these links:

Honda Robo-Leg: http://blog.wired.com/cars/200...honda-announces.html Check out the YouTube video at the bottom of the page.

HAL (Hybrid Assistance Limb) Exoskeleton: http://www.cyberdyne.jp/englis...otsuithal/index.html This device is going on the market for $4,200.

They both have a battery life of about two hours. But, that should improve over time. Check them out. It is the future!

Honda just updated their videos to show both of their products in action. Check it out: http://corporate.honda.com/innovation/walk-assist/

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Picture of Bruce
Registered: 09-28-2005
Posts: 654
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Fragile

Occasionally I feel very fragile (frail). It normally happens on those days where I am feeling very weak. (Fortunately, I don't have too many of these type days) When these days come along, I have to be extra mindful of my actions. If I try to multitask while turning or walking (can't walk, talk and chew gum at the same time), I can lose my balance in a flash and go down. Today was one of those days. I was just standing up from my lounge chair and turned to look at something as I was trying to gain my balance.

When these moments happen, it seems like everything slows down and every action is exaggerated as I try to recover, but my leg muscles will just not hold me up.

Fortunately, this time I fell back towards the chair, but my upper torso was too far forward and I whacked my head on the side table. Fortunately, again, I didn't do any serious damage. My wife game a running and couldn't figure out what had happened ... a water glass spilled, my glasses fell off, three items on the table were knocked to the floor ... but, I was in one piece sitting on the edge of the chair just shaking my head.

Just a few days before this I was thinking that I hadn't fell in some time. As I was considering this, the vision of many falls came back to me ... again, that slow motion, helpless feeling that you are going down and nothing is going to save you from kissing the floor.

Years ago, my wife had this stained glass (dragon flies) fireplace screen that she loved. As I was walking out of the office, I stubbed my toe on the corner of the raised fireplace stoop. As I went down I twisted and tried to catch myself. I only managed to grab her fireplace screen and drag that down with me smashing it into hundreds of pieces. She took it better than I did because I knew it was a one-of-a-kind piece that could not be replaced.

As I mentioned at the beginning of this rambling, some times I just feel fragile (frail).
Picture of Robbie2
Location: Vancouver Island, British Columbia
Registered: 10-08-2006
Posts: 58
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I think I understand how frail you feel at times, Bruce, altho it is my husband and not me who has KD. I am sure that your wife didn't think twice about her fireplace screen because, even if it was a one-of-a-kind, it's you that is irreplaceable. I haven't posted in a while because I'm feeling fragile too lately. My dearly beloved husband, who I feel already has had enough to deal with, with his KD, now has been diagnosed with invasive bladder cancer. No symptoms, other than some blood in his urine; it all seems surreal, but he now has to have surgery to remove his bladder, prostate and pelvic lymph nodes - a 5 1/2 hour operation, at best. If we can get through this, we can get through anything. Feeling fragile is perhaps a time to rest and regroup. I'm counting on it!
Picture of Bruce
Registered: 09-28-2005
Posts: 654
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Robbie, I am so sorry to hear about your husband's health issue. Whenever I feel a little down, all it takes is a message like yours (or something similar) for me to kick myself in the butt and say life isn't so bad ... I still have my health. I will add you two to my thoughts and prayers.

By the way, I am not certain about your comment about the fireplace screen. She really loved it. Smiler

Take care of yourself and I do hope for a speedy and total recovery for your husband.
Picture of Robbie2
Location: Vancouver Island, British Columbia
Registered: 10-08-2006
Posts: 58
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Thanks Bruce, your kind thoughts and prayers are much appreciated, and your comment about the fireplace screen made me smile Smiler, always a good way to start the day!
Location: San Francisco, California
Registered: 09-30-2005
Posts: 29
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Hi Robbie2:

I'm sorry to hear about your husband. I will include him and you in my prayers.

Stay strong!!!
Picture of Pocatello Jim
Location: Pocatello, ID
Registered: 05-24-2008
Posts: 109
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I also want to add my prayers for you and your husband.


Pocatello Jim
Picture of Dan LADOUCEUR
Location: Sudbury, Ontario CANADA
Registered: 11-09-2005
Posts: 30
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Our thoughts and prayers are with you and your husband.

God Bless...from my family to yours. Smiler

Dan
Location: Michigan
Registered: 08-29-2008
Posts: 58
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Robbie 2, Sorry to learn of your husband's added health issues. We also will keep you both in our thoughts and prayers.
Carla
Picture of Robbie2
Location: Vancouver Island, British Columbia
Registered: 10-08-2006
Posts: 58
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Thank you all for your kindness and encouragement. It is so appreciated and brings comfort and strength at a time when we most need it! Thank you.
Location: San Luis Obispo CA
Registered: 10-10-2005
Posts: 161
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Make sure your doctor's are aware of the issues surrounding anesthesia for SBMA patients. The current newsletter had an article with more [URL=http://www.kennedysdisease.org/research_medical.html]here[/URL.


=================
email:rheitzman at gmail
Picture of Robbie2
Location: Vancouver Island, British Columbia
Registered: 10-08-2006
Posts: 58
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Yes, they are aware, thanks Bob.
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