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Kennedy's Disease Chat Transcript  02-3-2007

Topic: Special Guest - Dr. Kenneth Fischbeck

Host: Bruce Gaughran


Chat Participants:

Dr_F_
Doughboy
DarwynP
TerryW
butch
Gary_KS
JoeK
chuck
Apache
Murf
Dart!
billeric
Bruce
Emeyerth
KellyC
PA-Paul
Gopher
MikeG
Michael17860
Jameson
coak
Sammy
fl-don
MICH

BEGIN CHAT

 

KDA Chat with Dr. Fischbeck on 02/03/07

Bruce: This morning the Kennedy’s Disease Association is pleased to welcome Dr. Kenneth H. Fischbeck, MD, to our chat room.  Dr. Kenneth Fischbeck serves as Chief of the Neurogenetics Branch of the National Institute of Neurological Disorders and Stroke at the National Institutes of Health.  Dr. Fischbeck holds an A.B. magna cum laude in Biochemical Sciences and an A.M. in Biology from Harvard University, and an M.D. from Johns Hopkins University.  Before assuming this position, Dr. Fischbeck held various teaching positions at the University of Pennsylvania. Most recently Dr. Fischbeck served as a Professor of Neurology at the University of Pennsylvania.  Dr. Fischbeck holds a specialty certification from the American Board of Psychiatry and Neurology, and he is a member of the American Academy of Neurology, the American Society of Human Genetics and the American Neurological Association.  In addition, Dr. Fischbeck is a member of our Scientific Review Board.  He also serves on the Scientific Advisory Board for the Hereditary Disease Foundation; the Basic Science Subcommittee for the American Academy of Neurology; the Scientific Advisory Boards for the Spinal Muscular Atrophy Foundation and the Dystonia Medical Research Foundation; and the Scientific Leadership Advisory Board for Merck Research Laboratories.   Dr. Fischbeck is here this morning to answer questions on Kennedy’s Disease including current research and the NIH clinical trial.  Please welcome Dr. Fischbeck.

Dr__F_: Good morning everyone

Dr__F_: Any questions?

doughboy: Dr., is it true that if you have KD that you will not get prostrate cancer

MikeG: Greetings from not so sunny Florida

DarwynP: It's a pleasure to kind of meet you Doctor.

PA-PAUL: I want to ask ?? has there been a study of the amount of sexual activity with respect to the amount of testosterone or the progression of the disease.

Butch: Kurt--so glad you chose to chat with us.

Bruce: Dr. Fischbeck, how is the trial going?

Dr__F_: You can never say never (about prostate cancer), but theoretically the risk of prostate cancer may be lower in KD.

emeyerth: Kurt, I hope your fingers are limber!!

Gary_KS entered the room.

Chuck entered the room.

Rich: Are there any research differences when studying late-onset KD with early on-set?

Bruce: Good Morning, Kelly, Mike, Gary and Chuck

Butch: Hi Anna Lea.

Gary_KS: Good morning, all. Gary Uchiyama joined

MikeG: Hi Bruce

kellyC_: good morning bruce

Chuck: Good morning all.  We are having computer problems so don't know how long we will be with you.

Gary_KS: Hi Bruce.

Dr__F_: I think a study of sexual activity in KD is a good idrea. We are gathering info about it in those participating in the dutasteride trial, and the Japanese group is also getting sexual data in their leuprolide trial. The dutasteride trial is going well, now 8 months sinbce it started.

Sammy: Dr F - great you could join. Related to another question that's started - What's considered early and late onset?

doughboy: What sex

Murf: What is SEX?

emeyerth: Kurt, I think what he was asking was whether testosterone levels vary due to sexual acitivity (although I could be mistaken)

fl-don: GM ALL

TerryW: Standing room only LOL

Dr__F_: I'm not sure what you are asking about early & late onset disease. The onset varies with repeat length, but there may be other factors we don't know about.

Bruce: Doctor, we have been receiving several emails from carriers recently complaining of symptoms.  Do the symptoms in females (other than later onset and less severe) normally mimic male symptoms (swallowing, stubbling, tremors, etc.)?

PA-PAUL: no i was asking if a decrease in sex would also cause a decrease in testosterone which would then speed the progress of the disease

Murf: Hey Don - you guys ok in Florida?

JoeK entered the room.

Butch: Doc...Is there anything that you can share with us about the trial and any new reports on KD?

fl-don: things r great here in fl

Dr__F_: I don't know about testosterone levels during sexual activity. we are looking now into whether testosterone levels correlate with muscle strength.

JoeK: It is cool here in NC

Butch: Nice try Paul>>>>

PA-PAUL: ok

fl-don: i did not make the cut for the the trial

TerryW: 21 chatters, that is great

PA-PAUL: I will take any excuse

fl-don: reb blood count was low

Rich: I am 80 and only had serious KD symptom at about 67. I was skiing until then. My brother had the same experience

Dr__F_: I laso don't know whether sexual activity affects testosterone levels. I suspect not.

PA-PAUL: thanks

Murf: Rick - Lucky man ... I'm hoping to make 60!

Bruce: Jerry, I forgot to say Good Morning

Murf: Rich

Bruce: Rich, are you still pretty mobile?

doughboy: I told youi Murf, you'll be around a long time, you just have to take it easier

JoeK: I took testosterone shots for several years .... quit when the rat made no improvements

Rich: At 80 years I would be eager to participate in trials. There is no downside for me

Murf: If your not living on the edge .... you're taking up to much space!

MICH: Dr. Fischbeck, have there been any tabulations of age of onset, family history... of a sampling

doughboy: I was told not to take testosterone because it will speed up the disease

billeric: I must be second oldest Rich.  I am 72.

Dr__F_: We have seen 57 patients for the trial and could enroll 50. Two have dropped out (for logistical reasons I think) and 48 are still in. No dramatic effects positive or negative yet. Of course, we don't know who is on dutasteride and who is on placebo. After everyone has been treateds for a year we'll do an interim analysis to see if there is an effect, but most likely we willl be continuing the trial for 2 years.

MICH: ... of KD people like was done by Griffin and Waite in 2000

doughboy: There is five in my family with KD and a sixth was tested 2 weeks ago, we are awaiting results in him.

Bruce: Doctor, we have been receiving several emails from carriers recently complaining of symptoms.  Do the symptoms in females (other than later onset and less severe) normally mimic male symptoms (swallowing, stubbling, tremors, etc.)?

Rich: Just hang in there. I now use a cane and cannot do much

doughboy: Even after a year and no results

DarwynP: I found it interesting my CAG and my mothers are both the same 45 repeats.

Murf: I must be on the sugar pills, I've gained wieght and I know it's not the doughnuts!

Dart!: Thanks All - now you have to say it all again!

fl-don: 45 here also

Dr__F_: I don't recommend taking testosterone. There have been some reports of short term benefit, but it clearly makes the KD mice worse, so I'd be concerned about long term risks.

Murf: Dart - We'll post the chat on the website later

emeyerth entered the room.

Dr__F_: Women carrying the KD mutations are usually fine, but I have known some to complain of mild symptoms such as muscle cramps, and I've heard of others with some weakness.

Rich: At my age there are no long-term risks

Michael17860 entered the room.

Butch: Hey Doc..Is there anything you can share with us about research on KD? Can we help with more samples for your research.

Michael17860: Hi all

DarwynP: My mother has a fair amount of "clumsiness", trips, twist ankle, droping stuff.

MICH: Michael, where is Paxinos?

emeyerth: Also, with regard to testosterone there was a recent paper in which giving  testosterone resulted in an increase in progression of Kennedy's disease symptoms but these were reversible when the testosterone was stopped.

Murf: Morning Jerry - Gopher

Michael17860: it is about 50 north of Harrisburg

Murf: Welcome back Rich

Dr__F_: I think the most important thing in KD research right now are the clinical trials going on here at the NIH and in Japan (dutasteride and leuprorelin). We've also heard of a smaller study planned in Canada. There are also some research studies in cell culture and animals (mice & flies) that might suggest other approaches to treatment in the future.

Bruce: Doctor, has the older estiblished figure of KD effects 1 in 40,000 been revised at all recently?

doughboy: So if it's reversible when you stop how does it hurt to take it ED

Murf: Ya, 1 in 40,000 would be a lot more people in the US affected

Sammy: Do you know which hospital or City in Canada is exploring a study?

Murf: more than 320

kellyC_: Study? in Canada.? wow that would be awsome..Where. or what province Dr,F

Dr__F_: The true incidence of KD is really not known. 1 in 40K is a rough estimate based on a survey in Germany.

jameson411: Hopefully it is really smaller :-)

emeyerth: doughboy, it makes the symptoms worse - why would you want to take it?  It was reversible in this one instance, no guarantee that all the increased symptoms would ve reversible (I do not remember the time period of the administration of testosterone)

Butch: One in 40,000 males or 1 in 40,000 male and female?

doughboy: I don't know Ed, I'm just sick and tired of never having any energy

Murf: one in 40000 would be 7500 KD people in the US

Murf: Where are they all?

coak: Hi all -- for a short few minutes

Dr__F_: I've forgotten where exactly the study in Canada is planned. Out west, I think. Does anyone else online have info about it? If not I can check into it and get back to anyone interested. (email me at This email address is being protected from spambots. You need JavaScript enabled to view it.).

fl-don: then 5,000,000 in us i believe

Murf: Hey John

doughboy: That's a heck of alot of people then who haven't been diagnosed, Murf

Michael17860: Doc, have you heard of Zebrafish being used in trials instead of mice or flies? I understand they breed much quicker and  are easier to work with.

Murf: Don - we all know Florida can't count LOL

Murf: //2

TerryW: New recently diagnosed people join the KDA each week

TerryW: keeps growing

jameson411: the hanging CAG don't count

Gopher: Does Japanese Study indicate it may be able to stop progression of KD?

fl-don: if 200 million us population, the 5 million kd'ers

Dr__F_: I don't know of zebrafish studies of KD, but there have been interesting studies of related diseases in fish, e.g., spinal muscular atrophy (SMA).

Dart! entered the room.

Sammy: Thanks Dr F - will drop you a line off line. Sounds like Kelly C also interested in the Great White North eh

kellyC_: LOL u betha LOL

Murf: 300,000,000 divide 40,000 = 7500

TerryW: Don that would be 5,000 I think

fl-don: maybe my math is wrong ok

coak: Kurt - any info on the "common BP drug that NIH reported on yesterday -- as it might pertain to KD?

Murf: 7500 fingers & toes

fl-don: ok

Murf: but no legs

TerryW: I think there are a lot more with KD than we think

Murf: sorry about the counting joke

Dr__F_: In terms of the incidence, KD does vary in different ethnic groups. Higher in Europeans & East Asians. A particularly high incidence has been reported in Finland, and there seems to be a lot in Japan.

doughboy: Has to be Terry, ther's 5 in my family and possibly 6

Murf: We're bigger in Texas

TerryW: Dr. F do you know of any African Amareicans with KD?

Dr__F_: Sorry, I don't know about the BP drug you mention. I'll have to look into that.

TerryW: Americans

Murf: Good question Terry

kellyC_: there is alot of KD amongst meti and first nations men here in Canada!!!!

Sammy: There was a study about epidural's used for anaesthesia in operation for KD patient.  Is this something to do commonly, or is general anaesthesia OK?

Butch: Murf--Only in your mind. LOL

Dart! entered the room.

doughboy: Good 1 Sambo

Rich: My delima is that I can't find any ancesters that had KD symptoms

Murf: Ron -//2

TerryW: Dart! did you update your Java?

Rich has left the room.

Dr__F_: I have not seen or heard of any African Americans with KD. I wouldn't be surprised, though, as most African-Americans have at least some European ancestory.

Rich entered the room.

Dart!: Yes, Terry, and hopefully all of this can be saved - minus the comings and goings!

Murf: I wouldn't think KD has ethnic bounderies

Dr__F_: Yes, I think Native Americans were among the first patients described by Dr. Kennedy.

doughboy: I have had 5 Dr.s who recently told me that because of my KD and the problem with putting you under, they would not operate on me unless it was life threatening

Gopher: There always has to be a first one with KD, right??

TerryW: Yes Dart we have multiple people saveing the chat session

Rich: Site keeps dropping me out!

Bruce: TJ, my doctor was concerned about putting me under also to perform surgury and decided to go with a non-surgical approach.

Dr__F_: Many KD patients are not aware of anyone else affected in their families. Presumably this is because it can be passed down through women for generations without causing any symptoms.

Gopher: Do we know or should we know what to use for anethesia or not to use?

Bruce: Gopher, yes.  There is a web page on our site that discusses this.

MikeG: Same with me, TJ

fl-don: i had an operation in 2002 and they knew i had kd and respratory problems.  was in icu for 4 days afterwards as they could not get my bp down

Gopher: Thanks  Bruce will check it out

Sammy: My mother was English, but passed away in the '70s. We lost track of relatives on the UK side & haven't been able to find out much about KD with UK relatives.

Bruce: I gave the information to my doctor and he consulted with the anathesiologist (sp) and they decided not to go ahead with the surgury.

doughboy: Well my urrologist told me last week my prostrate was very large and it needs to be shrunk, but he does not think he can operate on it, wants to give me shots in my Henry and I say no way, then they can go in and heat treat it, takes 6 weeks

Dr__F_: There may be increased risk of anesthesia with KD later in the disease, because of pharyngeal (throat muscle) weakness. I don't think it should preclude any operation that's important to do, though.

Butch: Doc--I have cousins who show the symptoms of KD but don't want to be diagnosed. Can't talk them into a simple blood test.

doughboy: So do you want to do my prostrate?

fl-don: anyway, i'm packed 4 vegas

Rich: I justhad a hernia repair and there was no problem with anesthesia

PA-PAUL: hey dough boy ask your dr to put you on Finesteride it does help my enlarged prostrate

TerryW: Rixh I had a hernia operation with a local and no problems either

TerryW: Rich

Bruce: Terry and I hear from many who donjot want to register as a KDA associate because of medical privacy issue (getting insurance, etc.).

TerryW: True

Dr__F_: It's really an individual decision to get genetic tesing. I think it helps to know the cause when symptoms arise, but it's up to each person to decide, particularly in those who may be at risk but asymptomatic.

coak: Have to go men. FYI - I use about 1/2 of a fifth rather than anesthesia. LOL

doughboy: I'll certainly do that PA-Paul, thanks

Murf: I also just had surgery and my anesthesiast used 150 mg Propofal. ... no problem for me

Bruce: I would think that we would have twice the number of associates if they didn't have this concern.

TerryW: Dr. Fischbeck, Do most with KD siffer from depression?

Murf: Doc - is Propofal ok?

TerryW: finger are bad today

Rich: Ah yes , depression has recently become a problem for me!

doughboy: I'd still like to get the Lap Band but Dr.s said no

Dr__F_: I don't think I'd recommend alcohol as anesthesia, but I understand that in low doses it may be healthful.

Sammy: I had ankle surgery last summer & the Dr was aware of KD and set the dose to bring me out a little earlier than usual. No problems afterwards. Was a year after severe lung infection (not related to ankle surgery), but still no problem with the anesthesia.

PA-PAUL: ME TOO on the depression

Murf: I'm now on Cymbalta 90mg for depression and think this is the best so far. It also has a mild pain killer for nerve / musule ache

doughboy: Are Dr.s being over cautious then Dr. F on putting us under and perhaps it may be because they don't know much about KD?

doughboy: I'm on Cymbalta also Murf

Bruce: Don, the transcript will bring you up to date afterwards, but nothing exciting on the forefront mentioned.

Dr__F_: I don't think depression is more common in KD, but I have known some patients to be depressed. Most of the patients I've met seem to be doing well emotionally, better than other neurological disease patients. Those involved in the KDA seem particularly well adjusted.

doughboy: Was on Effexor but Cymbalta is working better for sure

Bruce: That is because of Susanne and Terry ...

jameson411: here that Terry, you're making a difference :-)

jameson411: *hear

Bruce: They always seem to put a smile on our face.

Butch: Please ask your questions of Dr. F...It is great that he joined us so, make the most of his expertise.

Gopher: Well adjusted because of KD assocication, we think

TerryW: I suffer from depression also from time to time

kellyC_: Dr F......is it common to have Ataxi with the fingers locking up or Dystonai? i have that problem alot with my fingers in the cold! is it kd related? my nero says its not KD related? plz advise..

Gopher: same problem..think it is KD is it

Murf: Gopher - no its good drugs LOL//1

Michael17860: Doc have you heard of Creatine helping people with muscular weakness?

TerryW: Dr F, They are happy that they get to see you

Bruce: Doctor, balance appears to be more of an issue than strength in many that write us.  I notice the same problem.  I gather the balance is related to muscle strength in the feet, ankles, and legs.  Thoughts?

Dr__F_: It is good (for anyone) to watch out for symptoms of depression, because it can be dangerous and it's definitely treatable.

doughboy: Dr. Fishbeck, I notice my legs and arms are staying numb longer and more often, what's it from!

Murf: I stopped taking Creatine

jameson411: Good question Bruce... are there suppliments that are safe that might help stem the tide of muscle deterioration?

Michael17860: Why Murf? how long have you been taking It?

billeric: I saw no differance with Creatine.

Michael17860: Jameson411 what would they be?

Murf: I was taking it for about a year with no noticable difference and quit because of the kidney/liver risk

jameson411: like creatine or protien poweders...

Rich: It would seem there are widely different symptoms with KD

Dr__F_: KD doesn't really cause ataxia or dystonia that I've seen. It might be good to find out whether there's some other cause. Numbness on the other hand is certainly associated with KD. The majority of patients have evidence of sensory involvement on nerve conduction studies, although most are not bothered by it.

kellyC_: oh ok thanks Dr F.....

PA-PAUL: my numbness is severe but has been blamed on my diabetes

Michael17860: Murf I did not know that creatine had any risks.

Dr__F_: Creatine is being evaluated as a potential treatment for other related diseases, e.g., ALS. It has not yet been studied in KD (that I know of).

Gopher: What is creatine used for?

Sammy: My neurologist is more of ALS specialist, but was aware of KD and so was able to identify it. In post discussions, noted didn't know why but that evening primrose helped with muscle twitches - been taking 1/day & it seems to help a bit. Also lowered coffee intake which probably helps.

Dr__F_: Diabetes could certainly contribute to numbness by causing damage to sensory nerves. Good control of blood sugar isw important.

Murf: did you hear that TJ!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

PA-PAUL: Terry Did the compilation of data about a year ago ever get finished??

DarwynP: Dr. F   I can notice becoming weaker on a daily basis not just weekly or monthly. As an example I woke up with what feels like a pulled muscle in my right calf.  Now after it went away, I can barely lift my leg off the floor.  I've also lost 20 pounds since I was at NIH in October, seems to be all muscle!  I can't belive how fast I'm proggressing.  Have you seen it happening this fast?

Murf: the IMPORTANT part

Michael17860: My understanding of creatine is that people use it in sports for quick muscle strength kdue to water reteniton.

Rich: I have numness in my laft leg but that is atributed to disc degeneration. Right leg id still OK

Apache: I've heard that body builders use creatine to add bulk to their muscles (it causes the muscles to retain water)

DarwynP: I had no idea I had a problem until Oct/04. Now wheelchair.

MICH has left the room.

Dr__F_: KD doesn't usually progress fast. If weakness is progressing rapdily then would be important to look for other causes. If you are in the dutasteride study, please get in touch (This email address is being protected from spambots. You need JavaScript enabled to view it.).

DarwynP: Yes , I'm in study. Due to go for 2nd trip April 10th

Bruce: What other questions do you have for Dr. Fischbeck this morning.  We have about ten minutes left in the formal chat.

PA-PAUL: Dr Fishbeck,  Can someone tell me how closely related Finesteride and Duesdtride are related..

Dr__F_: Dutasteride and finasteride are very closely related. Our decision to go with dutasteride for the NIH trial was fairly arbitrary.

Murf: Doc - what are the risks for creatine

Dr__F_: I appreciate all the support we've had from you guys in the KD community!

Rich: Couild Dr. recommend someone in Seattle that I could see.

Bruce: Doctor, we also are hearing occasionally from men in their late teens and early twenties who believe that they have KD.  Initially we thought is was a 30's and beyond.  Have you heard of earlier adult onset recently?

doughboy: Thanks for your time Dr. Fishbeck, I really appreciate it. You were really refreshing to talk to at the conference! Please keep up the good work!  Gotta run guys, you all have a great day, God Loves You!

DarwynP: Thanks, Dr. Iwill email you with more detail.

Dr__F_: Creatine is pretty safe. The only side effect I've heard of is increased kidney failure in patients who already have kidney disease.

Bruce: Kurt, we appreciate all that you and your staff do to help us.

doughboy has left the room.

Bruce: Rich, Dr. LaSpada is at the U of W.

Chuck: I just got kicked out also but got back in immediately.  I lost quite a bit of weight but find I grow weary of taking such small bits and chewing so much.  I seem to get help when I have a throat dilation for a period of time.  I am down to 124 lbs. and by the way I am 79.  Will be 80 years old in Oct.

Murf: Thanks Doc, you give us all hope and that is very important to us now.

Michael17860: Bruce, when I go back in my thoughts of how I was in my late teen's I showed signs  of KD, like tremors.

billeric: You can see by the number of chatters what we think of you Dr. Fishbeck.  Thanks for your attention to us.

Dr__F_: In the Seattle area, you might check with Al La Spada at the Univ of Washington. He discovered the gene in 1991. He is in Lab Medicine and doesn't see patients, but he could direct you to someone good.

MICH: I'm honored Dr Fischbeck that you were here today...I Xeroxed all your articles at the Oregon Health Sciences Library back in 1992 when I was diagnosed.

Sammy: Dr_F - thanks so much for taking the time and all the great work & insight - will follow-up on the Canada study.  Thanks too  for many good questions folks & sharing time - thanks for chairing Bruce.

Apache: I also had tremors since my late teens

Bruce: We still have five minutes left in the chat.  Further questions?

Chuck: A big thanks to you Dr. Fischbeck and the enitre staff at NIH.  Great team!!!!!!

Michael17860: Also I had gynecomastia in my teens.

Dr__F_: KD symptoms can start in the teens, although usually later. The earliest we've diagnosed a patient is 18 months, but that was on the basis of increased creatine kinase in a blood test.

Rich: Good session, thanks

billeric: I did too Michael

MICH: In my mid-teens looking back I had more than a few calf cramps and the swim coach joked about my chest size

Butch: Your right Chuck. Thanks to the NIH team.

Bruce: Going back to carriers, what is the earliest you have heard of symptoms in a carrier?

Dr__F_: Good to chat with you guys.

jameson411: Thanks Dr_F

Michael17860: I really think that KD is an adolescent on-set,, Mild but still.

Michael17860: spelling bad

Bruce: Kurt, we really appreciate you taking the time out of your busy schedule to chat with us.  You continue to support the KDA and all of us with KD.  You give us hope every day.  Thank you so very much.

Murf: Kurt - will you be coming to Las Vegas Nov 6-8 for our conference?

Dr__F_: Thew few carriers I've known with symptoms didn't develop them until well into adulthood (40s-50s), but I suppose that can vary.

Apache: Thank-you Dr._F

Sammy: I had a question awhile back about stress exacerbating KD symptons, but it sound like there's anything specifically for KD. Am following up if there's anything comparable (a specific study) with other neurolical condidtions - ALS etc.

Dr__F_: Yes, I plan to be at the next meeting in las vegas.

Murf: Golden Nugget will never be the same Yaa hooo

Gopher: Thanks for the info on Las Vegas...good work team!!

Bruce: Often, when a family has KD in it, almost every symptom ends up being KD related.  We always advise people to check with their doctor first and have the test if at all concerned.

Dr__F_: Good advice from Bruce. Also good to avoid stress if you can.

Bruce: Many times it is not KD related, but something similar that needs to be checked out by a doctor.

Bruce: END CHAT

Bruce: Kurt, thanks again.  You were great

Bruce: Give out thanks to the rest of your team also.

Murf: I hear you on the stress thing!! that is a big one.

billeric: Grreat chat Bruce.  Thanks.

Bruce: Stress is a killer for my muscles.

MikeG: I've got to go too.  It was great seeing this many chatters today!  Thank you so much for your time Dr. Fischbeck - we really appreciate you!!!

Dr__F_: Thanks again, guys. Signing off.

END CHAT