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Kennedy's Disease Chat Transcript 06-7-2008
Topic: Special Guest - Alison LaPean
Host: Murray Williams
CT_Jameson : Morning
Michael17860 : Hi Jameson
CT_Jameson : Greetings
murf : Morning Paula
Paula : "Hi, there, just setting up my account and making sure I could get in."
murf : this should be a better venue when we get the bugs out
Paula : I think Mike is logging in now.
Paula : It looks nice.
murf : How was your trip?
Paula : It was great! The best part was seeing our son.
murf : Hey Mike
MikeG : hi murf!
murf : Do you guys see your IP address?
MikeG : no
MikeG : where?
murf : I see both yours
MikeG : are they the same?
murf : When you logged on
murf : yes they are
murf : right?
murf : Morning Michael
murf : Mike - do you see that one
murf : morning again
MikeG : I see everyone else's IP but not mine
MikeG : murf - did you see yours?
Michael17860 : "Good Morning, I had a little problem "
murf : I don't see mine either
murf : Not sure if I like that
MikeG : but I see others as they log on.
murf : Paula do you see anyones?
Paula : "No, I don't see any ip addresses."
MikeG : must be a preference setup
murf : OK its because we are administrators Mike
MikeG : oh
murf : we can boot people if they get out of hand :p
MikeG : you can right click on an avatar and see it
murf : Did you guys log on to Facebook?
MikeG : I did - thanks for the invite
Michael17860 : What is facebook?
murf : I have my profile and lots of pictures up-loaded now
MikeG : good - I'll have to take a look at it
murf : Face book is an application on the internet
murf : where people can communicate & trade files etc
murf : Hi Craig
Craig_H : howdy
murf : Michael17860 go to Google and type Facebook then click search
Michael17860 : No I have not.
Michael17860 : But I will later.
murf : Morning TJ
TRAILBLAZER : morning all
MikeG : how you feeling TJ?
murf : You can check out some pictures I have up-loaded that are not on my Webshots page
Michael17860 : Hi Trailblazer
TRAILBLAZER : Mike a lot better than I was
TRAILBLAZER : Hi Michael
MikeG : good - you should be much better from now on
Craig_H : I finished my dutasteride trial week before last
murf : Including one picture from 1959 of me
MikeG : glad they found it!
murf : I go in two weeks for the last trip
TRAILBLAZER : Murf I checked out your pics on face book but with dialup it takes me 45 mins. too long
MikeG : any word yet as to results?
Craig_H : not for 6 months at least when everyone is finished
MikeG : :(
murf : ok the piture files are big
murf : Morning jamies
CT_Jameson : Good morning all
TRAILBLAZER : Well maybe only for people with dial up maybe
TRAILBLAZER : Hi Jamerson
Michael17860 : Mouning Jamerson
CT_Jameson : "Hello Michael, Trailblazer"
Michael17860 : opps Morning
CT_Jameson : lol
murf : Where is Alison?
murf : :?
MikeG : when did you talk to her last?
murf : She'll be here (I hope) she said yesterday and logged on to make sure
murf : I just sent her a reminder
murf : She is no longer with NIH
murf : But still in genetics
murf : I don't have a phone number
murf : Hey Terry
TerryW : Hello
MikeG : Hi Terry
TRAILBLAZER : "Hello Terry, Tj"
Paula : "Terry, I didn't call you. Didn't forget, just been a crazy week. Maybe this afternoon?"
TerryW : Hey Hey
TerryW : "ok,"
TerryW : "I may not be here in the chat for long, Our Horse farrier is coming"
murf : She is trying to log on but the chat button dispeared on her. Same thing happened to me this morning
TerryW : wierd
Michael17860 : "That happens to my Money in my wallet, It disapears."
MikeG : same thing happened to me but it came back in a bit. I thought it was my cable connection - we've had a lot of power outages over here.
murf : The blue long on button was first a red x then a little orange button the the blue button before I got on
TerryW : Murray send her this direct link http://client11.addonchat.com/sc.php?id=307376
murf : done
TRAILBLAZER : Gas went up to $3.90 a gal. last night and diesel went to $4.75 can't afford to drive anymore
TerryW : groceries are going throughthe roof
TRAILBLAZER : Morning UTE
murf : Don't invest in oil as the bubble will burst this next quarter
TerryW : Hi UTE
Craig_H : hello Alison
alapean : Hi There everyone! So sorry to be late--computer problems!
TRAILBLAZER : Hello Alison
alapean : Hello!
murf : There you are
Gary_KC : "Good morning, all. I am Gary Uchiyama."
UTE : between pop-ups...loading but not starting and closing me down...I'm finally here after several hours of trying
alapean : "Yes, sorry. I have quite an old computer of my own. I'm using another now."
murf : "Alison La Pean received a Bachelor's of Science degree in Zoology-pre medicine from North Dakota State University in Fargo, North Dakota and a Master's of Science degree in genetic counseling from Northwestern University in Chicago, Illinois."
TRAILBLAZER : "Hi Gary, TJ Texas"
TerryW : SOryy UTE
TerryW : sorry
murf : "Previously, she has worked as a genetic counselor for Dr. Kenneth Fischbeck's group at the Neurogenetics Branch of NINDS at the National Institutes of Health (NIH) in Bethesda, Maryland. There, she helped begin and see participants for the SBMA/Dutasteride clinical trial, among other research protocols."
murf : Alison has recently taken a new position at the Medical College of Wisconsin in Milwaukee as a genetic counselor researching statewide newborn screening.
TerryW : Hi Bruce
murf : hey Bruce
TerryW : Hi Gary
Bruce : Good Morning all
murf : good to see you back Alison ... your looking good this morning!
alapean : :) You are all too sweet
alapean : and funny!
murf : you miss us
TRAILBLAZER : Yep like that bikini
Craig_H : "Alison, I graduated week before last !"
alapean : Ha!
TRAILBLAZER : You married yet?
alapean : I Cr. I heard that you made it through. Congratulations and thanks for sticking with us!
alapean : I miss you all terribly.
alapean : Not married...yet...but we're in discussions.
alapean : I'll let him know of your high expectations
TRAILBLAZER : "Alison, that's good but we willmiss you at NIH"
TRAILBLAZER : Any new news at the trial?
murf : Does anyone have a question for Alison?
alapean : "I am missing all of you. Angela has been doing such a wonderful job for over a year, but physically being away and not getting the daily trial updates has been tough. You have to know how much you all mean to me."
alapean : I did get a quick update from Angela yesterday.
murf : ...
alapean : She says that the trial is going along well (as I am sure many of you know).
alapean : We have begun the last visits (24-month visits)
alapean : and a few people have already completed the trial.
MikeG : there was some talk about a mid-trial report. I guess they decided not to go with that...?
Gopher : Morning all...also interested in Trial ... any new ones coming up
TRAILBLAZER : Have ther been any noticable differences!
alapean : "We're looking forward to getting all of the information organized so that we can have a quick data analysis at the conclusion of the trial, but that's still several months off (slated to complete in December, provided everyone makes it in as scheduled)"
TerryW : "Alison, Since there are many that don't make it into chat but still read the transcripts, Alison can you please desrcribe the inheritance pattern of Kennedy's Disease."
murf : hey Don
alapean : "Ok, so new trials:"
FL-DON : GM ALL
murf : FORD back to you my friend
alapean : "Kurt, Angela, Lindsay, and several others are considering an exercise trial to look at the benefit of fitness. Further drug/treatment trials will obviously depend on the outcome of our current trial. We won't have that information until the conclusion in December, and then after a few months of data analysis,"
murf : Great news
TRAILBLAZER : So basically nothing for about a year
alapean : "The inheritance pattern of Kennedy's disease is called X-linked"" inheritance."""
alapean : "Well, we won't have any conclusions until we have enough data from individuals who have completed the entire trial. I think we've only had ~4 or 5 out of 47 complete. So, yes, we do have a few months to go."
alapean : "Back to inheritance, I am sure there are some of you that may have an excellent grasp on this, and might be able to explain it better than I!"
TRAILBLAZER : "Alison, I have to go now, best of luck, we love ya, you have my email address, so email from time to time, see ya - TJ"
alapean : "X-linked inheritance means that the genetic change"" that causes KD is located on the X chromosome. And as I am sure you all know men have an X and a Y chromosome (Y makes you male) while women have two X chromosomes."""
alapean : "In KD, a change on the X chromosome causes the symptoms of KD, while women who have a change on one of thier X chromosomes generally do not show symptoms (likely because they have another ackup"" X chromosome to make up for that change)."""
Bruce : "Alison, if someone is borderline (I think it is like 38-42 repeats), would the symptoms be much milder and later on-set than those of us with full blown repeats ... not as noticeable except perhaps to a specialist? My purpose in asking is that I know someone who has never been tested and has KD in the family line, but has difficulty with curbs, steps, clearing the throat, etc., but didn't start having these symptoms until the early 60's and they are still only mild in the late 60's. "
alapean : "I usually use picture here, so the typed description is a bit crude."
alapean : One of the things we are actually to figure out with this trial is what effect repeat length may have on symptom progression and onset.
murf : Bruce - I'm only 48 and can hardly walk any more. TJ is the same age with 62 repeats and can walk without a cane
alapean : "It is possible that a man with a orderline"" repeat number (and labs to differ slightly on the numbers they use to describe that borderline range) may have a milder later onset manifestation."" "
murf : 48 repeats 52 yrs old
TerryW : is away from keyboard
UTE : An exercise trial sounds very interesting as at 61 I use my power chair alot but move my arms around alot at work with the help of a counter... so without the counter my hands and arms are very inaffective
alapean : "But even though it is possible, it is not an exact science and there are likely several other factors that play into disease onset and progression. other genetic factors, lifestyle, etc."
Bruce : "Thanks, his GP doesn't believe he needs to be tested because of the 30-40 years old onset stated in most descriptions of KD."
MikeG : 47 repeats and 60 yrs old - walking 300 feet with cane.
alapean : "Well, it is basically up to the gentleman and his physician, however with the family history and story of symptoms KD cannot be ruled in/out without genetic testing, particularly with such borderline symptoms. They might be just a process of aging in him. "
alapean : "UTE: yes, one thing researchers have been curious about is physical fitness in progressive conditions."
Gopher : How accurate is testing? Would two different testing site get same repeat?
murf : Gopher Just remember that Florida can't count so better to test in other ststes
Gopher : Right!!
murf : lol states
alapean : "Genetic testing is slightly subjective, but would likely only vary between tests (at this stage in testing) by (my guess) is 1-3 repeats. It really does depend on the accuracy and specificity of the lab doing the testing. The labs these days are generally consistent with one another."
MikeG : HEY!
murf : MikeG sorry
alapean : HA! Very funny about Florida.
alapean : "The labs have become more accurate with counting repeat number since the test was first made, when repeats weren't even being counted on several occasions."
UTE : Day to day can creatitine (sp?) total CPK mean anything for measuring the effect of different medicines
alapean : "And UTE, to respond to your earlier comment, yes, information on the exercise trial could be very interesting and potentially beneficial. I know we are in discussions with our rehab department at NIH to see what the logistics of the trial may be--if we ultimately decide to do it. I think that we do need to do some mouse studies in the laboratory before beginning such a trial in humans."
TerryW : is back
alapean : "creatine kinase (CK, or CPK) can be an indicator of several things."
alapean : CK levels can vary from day to day (even by the hour).
murf : My CPK = 900
alapean : "In KD and muscular dystrophies, we tend to consider the CK as an indicator of muscle breakdown."
murf : freaks my doctor out
murf : morning
loshimo11 : Hello everyone... This is Luis Shimomura joining in very late from San Francisco.
alapean : "Classically, it has been used to check heart function (particularly if one is suspected to have had a heart-attack--again, the heart is a muscle). If a person has a muscle disease, the CK can be an indicator of that."
murf : :o
alapean : "However, it can be influenced by several factors, such as exercise and certain medications (not an expert on this, but I do know that it can be influenced by certain cholesterol meds)."
alapean : But I definitely want to be clear that an elevated CK DOES NOT mean that you have a heart problem.
murf : 8)
alapean : "If you have KD, it generally means that you have a bit more muscle breakdown due to KD, and not other factors."
MikeG : "so as the muscle goes into atrophy, the CK goes up?"
alapean : "elevated CK levels in KD tend to freak out doctors (general practitioners). ACtually, we have received several calls from the local physicians taking care of our trial participants concerned about the CK levels."
Craig_H : "is reak out"" a clinical term ?"""
alapean : "Yes, CK is an enzyme contained within (among other cells) muscle cells. When the muscle cells breakdown, they spill their contents"" into the bloodstream. So as muscles breakdown CK spills into the bloodstream and then is measured when you have your blood drawn. Everyone has muscle breakdown it just when we see higher numbers we want to figure out why. Muscle disease definitely explains it but general physicians always consider other reasons to explain it as well."""
alapean : ":) Murf used it, so I figured reak out"" was fair game. :) It's one of my favorite medical terms."""
murf : Me too but I'm from the 60's
murf : probably explains a lot
alapean : "Where there questions that I missed or didn't get to earlier, while I was typing?"
CT_Jameson : "Is there a place to view data? Things such as CAG repeats, age of onset, physical condition?"
UTE : My CPK was over a 1000 when I took a cholestrol medicine so my doctor put me on a different one after freaking out!
MikeG : mine was 1200 when I first got diagnosed
alapean : "See? It happens. But again, there can be several reasons why CK levels are elevated, and sometimes there can be more than one reason."
alapean : A place to view data:
Craig_H : "Alison, Angela did a great job, but I did miss seeing you. I did meet Lindsay 2 weeks ago."
CT_Jameson : "At 34, I think I am the baby in the room... but my sympoms are progressing swiftly."
alapean : "Our group generally tends to get our information from scientific publications and review articles. One resource I am particularly fond of, as a genetic counselor, is www.geneclinics.org. They do have a lovely review page on KD. It is still a bit technical, but not as difficult to get through as some of the published articles."
CT_Jameson : I could carry my wife up a flight of stairs 4 years ago... now I can barely carry myself.
CT_Jameson : "my CAG is 50, which doesn't seem higher than any of the old men in this room (no offense guys)"
CT_Jameson : ;)
alapean : "Yes, again, one thing we are trying to look at is what factors can play into onset and progression. Everyone has a different course of symptoms and it is not well understood why that is, aside to say that everyone is different."""""
MikeG : that's right. I would have guessed yours would be in the 60s...
murf : got me I'm 48 rpts
MikeG : I was still running 10Ks in my mid-30s...
Gopher : Is the lower the RPT the less sticky protein?
alapean : "There is a general trend for earlier age of onset, as repeat length increases. However, it is still not sure if higher repeat length is associated with more severe symptoms or quicker progression. Several researchers are working on learning more about that."
MikeG : it would be interesting if it was an odd-even count too.
alapean : "So, there are a few theories on how the sticky"" protein actually causes problems that lead to KD."""
murf : the more scotch you drink the stickier the protein
MikeG : "at 47 repeats, I'm walking whereas at 48 murf is not. I'm 60 - he's 54"
alapean : "Unfortunately, I'm not the best person to talk about the cell biochemistry...that's more Mara or Kurt's realm."
murf : MikeG i like my explaination better
murf : :-)
TerryW : Jeffery?
MikeG : "yes, we all still have a lot to learn..."
alapean : "Indeed, we do."
poohsdaddy : Tried for nearly an hour to log on and finally made it
murf : MikeG I quit drinking 3 yrs ago so now I'm hooped
alapean : "Welcome! I had a little difficulty, myself. But I'm glad we all made it."
MikeG : :)
murf : we need to write a trouble shooter for the logon
CT_Jameson : hooped?
TerryW : "got your e-mail pooh, Please send me more more detail of what you did to get in and what occured when you get a chance"
murf : Fuced
TerryW : I got the log message
UTE : pooh...I have an old computer...so I had to start trying to log on yesterday
Craig_H : "I need to go. Alison, Thank you for all you have done for us. Good Luck in Milwaukie .... and the one"" you are in discussions with"""
murf : UTE lol
MikeG : "well, I need to get out of here too. Thank you so much for spending time with us this morning, Alison. I hope everyone stays healthy and vertical!!! Until nect time - take care."
poohsdaddy : Just started learning to use a computer this week.
alapean : Thank you very much and please know that I am thinking about all of your and miss you all very much!
TerryW : "oh, ok"
TerryW : thank you Alison
Michael17860 : Caio All
Gopher : Thanks for a great Chat...
alapean : "Thank you, all. You are such a pleasure to chat with."
Bruce : "Alison, thanks for being our guest today. It is appreciated."
alapean : "Take good care, everyone. Thank you for having me on today. Best to all!"
UTE : Alison... thank you so much... your lucky to be with those Midwesterners
murf : Did some one ring the dinner bell?
alapean : Thanks!
murf : Kelly what time you got?
KellyC. : good morning
murf : Any last questions for Alison?
murf : KellyC. welcome
poohsdaddy : "Alison, are you still at NIH "
CT_Jameson : l8r all
KellyC. : I had a hard time getting in here
alapean : "Actually, I just moved one month ago and just took at position at the Medical College of Wisconsin in Milwaukee, WI"
KellyC. : I had a hard time getting in this new chat
murf : KellyC. all of us did today sorry. We are going to look into it
alapean : "I'm still in contact with everyone, though, and still checking the NIH email for ~1 year."
poohsdaddy : "Alison, give me a call sometime. I'm in the phone book"
alapean : Drop me a line and let me know when!
murf : any more questions?
murf : Alison - you were saying
poohsdaddy : I'm home most of the time since being unable to return to work since early December
alapean : "Nothing, I was just going to ask if there were any other questions, but you beat me to it."
UTE : what percentage of KDers would you say have foot neuropathy
KellyC. : I'am back again lol
murf : I'll stay as long as needed
KellyC. : so is the trail over now alison
poohsdaddy : TThanks for being there--hopefully it will be eeasier nextime will read script later
alapean : "That is an excellent question, but unfortunately one for which I do not have a good answer. There are actually several causes of neuropathy. I don't know which percentage is caused specifically by KD, as it is generally not a specifically described symptom, though I know men with KD do have it. Diabetes or borderline blood sugar can also play a role, and there are several men who have both KD and diabetes. So, it is really difficult to say."
alapean : Trial is still continuing on. We just started our 24-month visits and everyone is slated to complete the trial by December.
KellyC. : oh ok ty allison
murf : KellyC. Last people will go through in the next 6 months
KellyC. : ic.... ic..... ok ty Murf
KellyC. : I'am looking forward to the results etc... after it is done
poohsdaddy : I'm involved aandd set to go again in October
murf : this visit I get the electro shock theraphy again goody
murf : two weeks for me
poohsdaddy : Two days of fun in B ethesda
murf : any more questi9ons?
alapean : I think we are all waiting eagerly for those results. We certainly appreciate all of the time and energy all of our participants have put into participating.
murf : Thanks Alison for staying
poohsdaddy : Not ffor now Thanks for staying a little longer
alapean : "No problem, but I will have to go pretty soon."
KellyC. : ty allison for coming in to chat with us
murf : I like this chat
murf : you can tell if people are typing
alapean : Is this one particularly different from others?
KellyC. : here i was in the old one waiting and waiting lol no one there lol
murf : LOL
KellyC. : lol
alapean : OH! You can see what I'm typing! Funny--you can see me change my mind on how I'm going to word something???
KellyC. : lol
alapean : Why can't I see YOU?!?! :)
KellyC. : so allison how many kd men left in the trial quite a few still?
poohsdaddy : I did not have a user name and password in all the right places
murf : Thanks again Alison - we really miss you --- Angela is doing a terrific job - big time!!
murf : Right side there is a kry
murf : key
murf : by your name
alapean : "Thanks! Angela is terrific, isn't she? We were really lucky to have her come work with our group. I think we have 47 men still left in the trial, or is it 46. I apologize, I cannot remember the final count before I left."
murf : Alison is typing
KellyC. : ok ty allison
KellyC. : i thought you left the NIH.... its good to still see u there awsome stull allison lol
alapean : "I don't see the key, but I guess it doesn't matter now. :)"
murf : maybe just for admin
murf : OK thanks everyone
Gary_KC : "I got go. Alison, thank you very much."
murf : stay on your feet
murf : See you in two weeks
alapean : "Alright. Well, unfortunately I do have a class that I need to get to so I do need to go. But I want to thank you all again for having me on to chat with you today. I really miss you all, though am enjoying the Midwest, and wish you all the best. Hope to see and talk with you soon."
KellyC. : tc allison
murf : thanks you for coming!!
poohsdaddy : Thanks
alapean : "Thanks again, everyone. Take good care! Good Bye! Alison "
murf : CYA all
KellyC. : so howcome the icons are green blue and red???
KellyC. : on our names murf
murf : KellyC. green = guest
KellyC. : oh ok
murf : red = admin
KellyC. : ic... ic.... ok
murf : blue are attendees
KellyC. : its a good program lol
murf : cool eh?
murf : cya
KellyC. : yes very lol
KellyC. : alot better than the old one
poohsdaddy : Hope to learn more before nex session