Hello all.
It has recently been confirmed I have this condition after my 84 year old Grandfather was tested last year. I have been digging about on the net but haven't been able to find that much info on Kennedys.

My story so far
I noticed at 16 years old that I was developing breasts, although they are not as bad as some males, it has proved to be something that I am very embarassed about.
At around 16-17 years old I noticed that I would shake a lot especially in stressful circumstances. As the years have gone on the shakes, which were mostly in my hands, spread. Now when in a stressful environment EVERYTHING shakes, my head my legs my voice etc.
I have noticed numbness in my upper lip which has spread across my face to the middle of my cheeks. A family member has noticed in photo's that the left side of my upper lip hangs lower than the right. Only 2 years ago I could blow up balloons, not now.
I take cramps in my legs at least 3 times a night which means I have to get up and stretch. During the day I get cramps in my tongue, neck, side of my stomache, and my legs.

Forgive me for my lack of knowledge on DNA but when I was diaognosed as having Kennedys I was told I had a number 44. I have no idea what this number refers to but was told it was the same as my Grandfathers. It was suggested I would have the same symptoms as him at the same sort of age as him. As I said he is 84 and approx 30 years ago he had been diaognosed as having "bells palsy" obviously that wasn't the case but he was 20 years older than I am now.
Does anyone know if effects are similar through the genetic line, or if the syptoms I have are just common among sufferers aged 34?

Being diaognosed has been a real kick in the teeth for me and the syptoms make me really self-conscious and are embarassing, but knowledge is power.

Hi Davey, glad you found us. There's a wealth of information on the site, take some time to browse through it. 44 would be the number of CAG repeats in your androgen receptor gene. How KD progresses in individuals varies greatly; it is hard to know if you will experience the same progression as your grandfather (although being alive at 84 sounds like not a bad genetic heritage). Diagnosis, for me, after I got my head around it, puts a name to the beast. Understanding means you can move forward with research, discussion on the forums/chat with others in the same position, and the thankful knowledge that you do not have something truly nasty, like ALS. There's worse beasts in the forest.

Davey, Cam is right on with his information and has a great attitude about living with KD. You can only play the cards you are dealt. How you play them is up to you. For some more information, see the Frequently Asked Questions on our web site ( http://www.kennedysdisease.org/KDA%20Q&A.pdf http://www.kennedysdisease.org/KDA%20Q&A.pdf).

Welcome Davey

My husband was diagnosed with KD a year ago, but, we now realize he was having symptoms for about eleven years, leading up to his diagnosis. After reading posts here, I realise how differently this disease affects everyone. My husband walks with a cane when we're out, due to his balance problems. He can manage without it at home, but has most difficulty climbing stairs. From early adulthood (he's 58), he was plagued with restless leg syndrome and painful leg crampsat night. Now he has neither! When he first noticed weakness in his arms and legs, 11 years ago, his doctor put him on andriol (testosterone), which he took daily for 10 years, before he was diagnosed with KD. We can only wonder now, if that did more damage. You are right Davey, 'knowledge is power'. We're all here, having lots of questions and looking for answers, so welcome

Thanks for all the help and support...
I got speaking with my grandfather today so that I can go to my neuro with more info
Just from my own experience, I said about blowing up a balloon, my grandfather can't whistle, we know that the symptoms of this disease are very subtle at the begining but this is something that suffers may be able to relate to, and may remember when that problem started.
My grand father said he noticed he could whistle 10 years before he was diagnosed!!!
I have noticed the muscles in my legs are twitching mostly at night when I am relaxed, is this normal? My genetic consultant checked my back for twitches not my legs, I guess the neuro will check them
Does anyone know if Kennedy's is classed as a 'motor neuron disease' as I am trying to make a claim on my critical illness insurance policy?

I just tried the whistle and still can but very faint. Twitching legs perfectly normal. Eventually twitching and cramping all over (arms,legs,neck, etc.). Definnately a "Motor Neuron Disease". Our neurons are our real issue (signals are not getting to our muscles properly through our neurons).

Hey Davey, welcome to one of the most exclusive clubs in the world. Just tried the whistle thing. It's been a few years since being diagnosed and I can still whistle, just don't ask me to blow up a balloon .

Dan.

Hmm, yep I can still whistle, just not for long. I hardly ever have to blow up balloons anyway. And, luckily, my daughter doesn't mind opening the twist-off beer caps for me 8-).

Reference KD, here is how it is described:
"Q: What is Kennedy’s Disease?
A: Kennedy's Disease (also known as Spinal Bulbar Muscular Atrophy, SBMA, or Kennedy's Syndrome) is a rare and currently incurable and non-treatable X-linked recessive genetic progressive neuro-muscular disease X-linked recessive genetic progressive neuro-muscular disease. Both the spinal and bulbar neurons are affected causing muscle weakness and wasting (atrophy) throughout the body which is most noticeable in the extremities (legs/arms). It is also especially noticeable in the face and throat, and causes speech and swallowing difficulties, along with major muscle cramps as well as other symptoms.

quote:

progressive neuro-muscular disease

I hope everyone at least had a smile on their face when trying to whistle!!!!

Thanks for that info Bruce, Has anyone got any money out of the one way street that is critical illness insurance??

Also I would be very interested in meeting up with someone with KD who lives in Northern Ireland, if interested let me know

Hi Davey
Re: critical illness insurance - I'm not sure if it is the same thing, but I was able to qualify for long-term disability under my company's insurance. It took a good lawyer and 10 months, but it did work in the end.

Haven't been able to blow up a balloon for about 5 years...in an emergency (Yes, I had a balloon blowing emergency when I wanted to blow-up some balloons for my wife for our anniversary and there was no one else around to help!), I did find a trick that helps...hold your nose and then blow...this makes the compromised soft-palette which is leaking air no-longer an issue.

Good Morning All,

I guess I am "Yet another new guy". I am still waiting on the genetic test to verify KD, but two neurologists (one local and on at the MD clinic in Indianapolis) strongly believe that it will come back positive. A little about me: I am 39 years old. Father of 8 (2-bio, 3-step, and 3-adopted) children. I have had tremors all of my adult, but noticable muscle weakness started 6 years ago. My biggest challenges are stairs and any uphill grade, which has proved a significant challenge with my job as a Safety Manager for a stone mining company (lots of stairs, ladders, and catwalks to climb and inspect). I am still trying to "wrap" my mind around this...there is still a voice in my head that says, "Work harder." "More exercise." etc.

Anyway, I am sure that I will be on here frequently in the coming weeks, months, years.

Jim

Jim, welcome to the KDA and forum. Being one of the old-timers, I have to recommend that you continue to stimulate your motor neurons and muscle cells. Neurologists recommend regular exercise, but not to over-do it and damage the muscles. The KDA has a Smart Exercise Guide that has been reviewed and recommended by several neurologists. Check it out at the following link: Smart Exercise Guide
If we can help in any way, please don't hesitate to contact us.

Hi, Jim. I'm sure you have lots of questions. You'll find the answers on this site. If not, just ask in the forums or the scheduled chat room. This site has helped myself tremendously. I was able to get my head around it by, finding out as much as I could and making informed decissions as the weakening has progressed. I wish you the best.

Darwyn