Kennedy's Disease Association

A Public Benefit, Non-Profit Organization

"Back in the late 1990s, I felt alone. I had just been diagnosed with Kennedy's Disease. I came across the KDA and attended a Saturday chat. What an eye opener! There were two dozen others on the chat that were going through what I was experiencing."

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Kennedy's Disease Chat Transcript   11-03-12

Topic:  Open Forum

Guest:  None

Host:  Ed Meyertholen

 

Gary_KC
Good morning. This is Gary joining in from Kansas City. It is still 38 degrees with overcast this morning.
billeric
good morning from cool cincinnati
billeric
not much warmer here Gary
Gary_KC
Hi billeric
2ruairidh2
Good Morning, My name is Christine and I live north of Toronto, Canada.  It is 1 degree here
Gary_KC
Hi 2ruairiddh2
billeric
oh no christine
billeric
our chat members must have slept in
2ruairidh2
I learned about this site from google.  My husband was diagnosed with Kennedy's disease 4 years ago
edm
Kennedy's Disease Chat
edm
Good Morning everyone
billeric
imust have close to 20 years dealing with kennedys
Gary_KC
Hi edm
billeric
morning Ed
Gary_KC
Hi Bruce
edm
For the record, I am in northern Virginia and it is chilly
Bruce
Morning
edm
Hi Bruce
billeric
did Sandy bother you Ed?
Bruce
Ed, I am chomping at the bit.  Tell us the news from the researchers at the conference.
edm
We had some rain and some wind but no damage and no outages.  I did have 2 days off from work!
edm
The NIH folks are expecting to start an IGF1 trial within 2 years (hopefully a bit sooner).
TedA
Hello from chilly Richmond, VA
edm
They are quite excited, at least they seem to be to me.
edm
They also had a presentation regarding the exercise trial - although they have no data yet as the trial is still ongoing.
Bruce
From what I read, they have reason to be.  Are they testing larger animals?
edm
I beleive that they are still looking for volunteers and if one does so, they get two free trips to our nation's capital!!
Bruce
Morning Mike
MikeG
morning everyone!
MikeG
where is Ed?
edm
After mice, humans are the next larger animal.
edm
I am right here!
Bruce
How about J-9 or 14?
MikeG
what did you think of the conference, Ed?
MikeG
sorry that we ran out of time at the end... we had too many doctors & researchers there... and that's not a bad thing.
edm
Recently, there was a new paper published by Sobue's group in Japan (and partially funded by the KDA) that Naratriptan (a migraine drug) slows down disease  progresion in KD mice - it is still preliminary but could be of interest.
edm
Bruce,
Bruce
Yes?
edm
Bruce, I get the impression that they are not (at the moment) as excited about ASC-J9 - my take is that it is still in the preliminary stages and they are still working out delivery and dosage issues.  That was my feeling, at least.
Bruce
Thank you
MikeG
how about the melatonin - have you heard anything about that?
edm
I have to learn not to hit the return button so quickly!
TedA
Ed that brings up a question about  being on more then one drug at a time that slow the progression.    Is  someone going to address this?
edm
I doubt that melatonin will be found to have any benefit for us.  THere was a paper a while back that indicated that melatonin alleviated some sympotoms of ALS (I think that was the disease) mice - however the dosage was the eauivalent of 1.5 bottles  of melatonin per day (I think it would be in excess of 500 pills per day - but maybe it was only 300) in humans.
MikeG
wow!
MikeG
I know Diane came up to me afterwards and said they had discounted it a few tears ago... maybe that's why.
edm
Ted, I am not quite sure how to answer.  At this time, there are no drugs that have been shown to slow the progression so I would think that it is to premature to worry about multlple drugs.  It is not clear what one would study at this time.
edm
Mike,
TedA
With that much melatonin it would relieve the symptoms because the person would likely be asleep.  LOL
edm
that damn enter button
edm
Ted, yep!
MikeG
:)
TedA
Duratertide slows down the progereion?
edm
Mike, dosage is always an issue and in such cases, an exceeding large dose can have more severe side effects.
MikeG
is the IGF-1 compound still an injectable or do they had an oral now?
edm
Ted, probably true but the study did not statistically show this.
TedA
It has for me.
edm
The effects were promising but did not reach the level of scientific certainty.
Bruce
Yes, the study reported that it did not offer a significant benefit.  It is my understanding that significant means +5%.
edm
Significance means that the probability that the results were do to chance is lower than 5%, 1 out of twenty.
Bruce
TedA, and for several of us.  However, about 50% (?) did not show any improvement if I can remember correctly.
MikeG
morning r_mrugs_ny
r_mrugs_ny
Good Morning from chilly Western New York, its my first time visiting the chat room, just stopping by to check it out.
MikeG
did you get much damage from Sandy?
Bruce
Welcome!
edm
The question is whether one's improvement was due to 1. the drug, 2. to the belief that the drug works (placebo) or 3. was just a normal occurance in individuals with KD.  The purpose of the clinical study is to determine which of these is the likely reason.  In the case of dutasteride, there could not rule out 2 or 3.  This does not mean that the dutasteride does not work, it just has not been demonstrated to work under the conventions of science.
r_mrugs_ny
We did not get any of the conditions they were calling for, thankfully.
MikeG
that's good!
MikeG
I'm sure glad they put the race off...
r_mrugs_ny
Hello Bruce, i believe it was you that I corresponded with earlierthis week, if so thanks again for all the information.
Bruce
I believe the message regarding dutasteride was that it didn't appear to do any harm and for some it did a little good.
Bruce
Yup, it was me.  My pleasure.
MikeG
Ed, were you going to run it this year?   :)
edm
I feel sorry for the runners who traveled up when they first announced that the race would go on.
MikeG
yep!
edm
No Mike, but I did just run in the Marine Corps Marathon ...
MikeG
they should have made that decision a LOT earlier!
edm
10 K this past weekend.
Bruce
I still can't believe the mayor didn't announce the cancellation until Friday afternoon.  It just didn't make sense to me.
MikeG
great - what did you get?
edm
a tee shirt that says Semper Fi and a banana
Bruce
Did they tell you what to do with the banana?
edm
I ate it - I would never talk back to a marine, even if I were young again!
edm
and I should note that the tee shirt is a nice one, long sleeve, gray - and warm.
MikeG
you and Paul were looking good at the conference... I wish I knew your secret.
edm
diet coke!!
MikeG
:)
Bruce
Ed, was there other research the proves interesting?
r_mrugs_ny
Anyone care to share how old they were when they were diagnosed?  My husband is 35 and his brother is 37 and they are currently in the diagnosis "phase".  Thanks
MikeG
my hip is almost 100% now... just need to keep up the exercise therapy they gave me.  I still have a bit of pain where the muscles are growing back and are tight.  I guess I need more stretching.
Bruce
I saw symptoms in the late 20s and was diagnosed in the late 40s.  I am now 65.
edm
I am trying to think, most of the other researchers were still contining with work we had heard about before.
TedA
40 in 1990
edm
No big breakthroughs - at least not that I recollect.
tomk
I was 38 when i realized something is not right with my legs
MikeG
I saw symptoms in my mid 30s and was diagnosed at 42 - I'm 64 now.
Bruce
I was initially diagnosed with ALS.
Bruce
You are sure an old fart, Mike!
Gary_KC
I was 36 when I was diagnosed with SBMA.
MikeG
:)
2ruairidh2
Anyone have any comments on knee replacement and kennedy's
edm
45 in 1999 - looking back had cramping in my twenties
MikeG
me tto, Ed.
r_mrugs_ny
Thank You, my brother in law is exhibiting more signs/symptoms then my husband thus far.
MikeG
bad leg cramps
r_mrugs_ny
my brother in law has
edm
My cramps initially were in my tongue and my jaw muscles.
tomk
Actually calling  SBMA did not occur till after I came back from the Mayo and then My home town Neuro disagred with the Mayo Doc
r_mrugs_ny
severe muscle atrophy, legs and arms, he has been blaming it on a fall 20 yrs ago for just as long
Bruce
You need to discuss your condition with the surgeon and anethesiologist (sp).  They need to understand what complications KD can offer during surgery and post op.
MikeG
I don't recall ever having tongue cramps...
r_mrugs_ny
my husband gets muscle cramping in legs, jaw and neck
edm
I do not know anything about knee replacements - but I can now talk about cataract surgery!
edm
Mike,
edm
MIke, it was my earliest memory of any symptom - and it was restricted to just the right side, I would get 2-3 of them daily for a year or so.
tomk
My Eye Docs is the only Doc who tells me for my Age the Eyes look great.
Bruce
Cramping use to be quite serious for me, but then not as bad, and recently has not been an issue.
MikeG
the first thing that clued my neurologist was the tongue fasiculations....
MikeG
I had that in my early 20s I would guess.
tomk
My cramping went away with an increase in Potasium Levels, ie Bannas
MikeG
same here, Bruce.  It seems as the muscle goes into atrophy, the cramps go away...
Bruce
What muscle?  ;-)
r_mrugs_ny
were your potasium levels low on lab work?
tomk
YES
MikeG
low potasium and high CPK.  That's the ticket.
r_mrugs_ny
how about any info on CK levels?  my husbands was elevated yet his brothers is within normal range.
tomk
LOW but not at a dangerous Levels...no stroke worries etc..
r_mrugs_ny
CPK i guess i mean
Bruce
The first flag for my doctor was my CPK count was so elevated.  He thought I might have some organ issue or a neuromuscular condition.  He was right.
MikeG
same here
r_mrugs_ny
anyone alos have diabetes?
Bruce
CPK has been reported by several associates.  Ranges are from the high 200 to several thousand.
MikeG
not me but we have several associates who do.
r_mrugs_ny
my husbands was 594
Bruce
No
edm
I do not
Bruce
I use to run in the 800+ range until I changed my exercise routine.  Now I run in the mid to high 200s.
r_mrugs_ny
how much exercise?
MikeG
Has your husband beed tested for KD with the genetic test?  If so, what is his CAG repeat count, do you know?
Bruce
That depends on the individual and capabilities.  The goal is to stimulate the motor neurons and muscles without doing any damage (over-doing it).
TedA
Doc says boarder line disbetes so is watching lab test results closely.
r_mrugs_ny
the neurologist just recommended pyhsical therapy, and no genetic testing yet just started this process 2 months ago.
Bruce
The only real way to confirm KD is the DNA test.  It is reasonably priced and very helpful in confirming a diagnosis.
r_mrugs_ny
neurologist ordered some lab work and an EMG so far, all about the insurance companies...
r_mrugs_ny
it is the next step
Bruce
A physical therapist should be familiar with a progressive disorder.
edm
Is it known if KD runs in your husband's family?
r_mrugs_ny
They have never heard of it, his mom passed when he was 16 y/o
Bruce
The DNA test was discovered in the mid-1990s.  It is not expensive and most insurance companies cover most of the cost of the test because it is genetic.  It is far less expensive thean the EMG (I had two of them before the DNA test).
MikeG
and MUCH less painful...
Bruce
YES YES YES
edm
To me, it is strange that one would make a diagnosis without the DNA test.
tomk
Amen  However the DNA now makes my daughter very Hesitant to have Children
Bruce
Since KD is still often misdiagnosed, I feel it is important to have the DNA test especially if there are others in the family that showed signs.
TedA
Bye for today.
edm
Goodbye, Ted
r_mrugs_ny
How do you force the neuro to just order it?   i requested it at his first visit and she refused, again ordered other tests first, she is trying to get his brothers insurance to approve it now and if they wont she will order it for my husband    as i told bruce earlier this week she says if one has it then the other does too, thanks for the misinformaton doc!!!
MikeG
tomk, you need to talk to Cliff Johnston about that.
r_mrugs_ny
they have not diagnosed either of them yet officially-- just 99% sure
Bruce
Ed, the Nobel Prize recipients this year were given the award for using cells to create stem cells I believe.  This appears to be promising for many reasons if it can be replicated.  What are your thoughts on this?
tomk
I agree but when we came back from the MAYO Our Childrens Hospital told my Daughter that if she has a baby boy its a 50% chance the child will develop SBMA later in his Life
edm
In what regard, Bruce?
Bruce
They mentioned the possibility of creating healthy muscles by using healthy cells, for example.
r_mrugs_ny
Thanks for letting me chat maybe by next time we will have some results, we are ready.
Bruce
r_mrugs_ny, is this a specialist or a GP?
tomk
As always enjoy the exchange of Info.  got to GO
Bruce
Take care
edm
I think that the possiblilty of this helping me is very low, not enough is known to do such a thing in my lifetme, IMO.  One of the problems with KD is that we lose the cells that control the muscles - so the defect MAY not be due to our specific muscle cells.
MikeG
I've got to run - until next time... take care!
Bruce
Right Ed, I also read that they could use it to generate healthy motor neurons.
r_mrugs_ny

Bruce
I feel bad for the wife in NY,  she is frustrated working with a doctor who is giving her mis-information.
edm
Certainly, that has been done already.  BUt there has been no way to insert them and make sure that they make the correct connections - this is very complicated.  Just inserting a neuron is not enough, each motor neuron receives over 1000 (closer to 10,000) connections from cells in our brain - it is not known how to get this to occur and it has to occur correctly.  We are still in the infancy stage of stem cells, while the hopes are high, so are the hurdles.
Bruce
She was told if one of the brothers has KD than all of them do.
edm
But how to they know the brother has it?  I thought she indicated there are been no tests.
Bruce
Yup, the transportation system and connections are always a hurdle.  Bummer
Bruce
They don't know Ed, they are guessing because of the symptoms.  They are frustrated.
2ruairidh2
Thanks for the session
Bruce
The brothers do not have insurance that covers the testing however.
Bruce
Gary, you have been quiet again today.  What's up?
edm
I think it is time to go watch football!
Bruce
I agree.  Ed, I appreciate you hosting this chat today.  You are always a source of information and clarification.
edm
and to practice using my new, bionic eyes!
edm
No more glasses!!
Bruce
Everyone take care and srtay upright.
Bruce
Ed, I am glad it the surgery worked for you.
edm
So far!  Have a good weekend!
Gary_KC
Bruce, I came back from a trip. I am still tired.
Bruce
Okay, guy, take care.
Gary_KC
I was in Japan in October
Gary_KC
Thanks lots for the updates. Take care all. Bye now.