Kennedy's Disease Association

A Public Benefit, Non-Profit Organization

"As a mother with a son who has KD, I appreciate those of you who are so dedicated to informing the public of this rare and difficult disease."

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Kennedy's Disease Chat Transcript  10-30-2004

Topic:  Post KDA conference

Host: Susanne Waite

 

Chat Participants:

Kdaadmin = (SusanneW)
TerryW
MikeG
JohnM
Denny
FL-DON
Doughboy
Lori
Billeric
MikeG
LouLou
Stevefu63
Peter
JoeK
Gary_KS

BEGIN CHAT

Kdaadmin entered the room.

Stevefu63: good morning from canada

MICH: Good morning Bill, Great tp meet you in AZ!

Jeans: good morming from France

denny entered the room.

TerryW: SHe made it

doughboy: Peter, how's your weather there!

JohnM: Boy do we have a crowd this morning.

Kdaadmin: Good morning - this is Susanne, I could not get my login to work - so I am using the KDA Admin... which is fine since I'

Peter: its foggy, but mild

Billeric: Thanks MICH. It was fun seeing you

Kdaadmin: l'll be reporting fromt the KDA's point of view!

doughboy: Good morning Susan!

Stevefu63: cool

Kdaadmin: Who here was at the Conference last week?

Billeric: Me

JohnM: No I.

Jeans: good morning Susanne

doughboy: not me, I had gall bladder surgery!

Lori: me

JoeK: joe no

TerryW: me

Stevefu63: nope

Kdaadmin: This Chat's topic is last week's KDA Conference & Symposium held in San Diego, California.

JohnM: I am looking forward to hearing about how it went.

LouLou: It seems there is more folks on line this mrning. I hope it is becauswe you all talked up the chat at the conference.

Kdaadmin: We've been getting great emails back from those who were their that they enjoyed the Conference very much - no negative reports thus far from those surveyed.

doughboy: Murray filled me in a little, but I'm anixous to hear more!

Kdaadmin: Who is doughboy?

Kdaadmin: We had 43 individuals living with KD attend. The furthest came from Hong Kong.

doughboy: I'm TJ Noack from Houston, you've met my brother Bill and sister Loiuse and her husband Charley, she transcribed last years notes

Kdaadmin: We had about 15 doctors/researchers attend. The furthest came from Canada or Maryland... I haven't done a mileage survey! : ) LOL

Stevefu63: quite of few pple there at the conferance???

Stevefu63: what dr. from canada?? what province

Gary_KS: I couldn't attend the conference. So I would like to hear any good news if you have.

Kdaadmin: Thanks TJ. - yes they did transcribe - we still need to post those transcriptions. (The one's that made sense and doctors approved us posting!)

FL-DON: great turnout then, cudos

doughboy: your welcome

MICH: KDAADMIN...where do you live and what is your first name??

Kdaadmin: We will be selling this year the doctors/researchers panel discussion - it will also include Dr. Kennedy's presentation. A price has not yet been decided upon - but we are thinking around $40'ish?

doughboy: Yes fill us in Susan

doughboy: I'll buy!

Kdaadmin: I am Susanne Waite, President & Executive Director of the KDA - I live in Coarsegold, CAlifornia

Kdaadmin: The VCR tapes could be used to show family, friends and even given to your own doctors to help bring them up to speed on what research is doing with KD.

Lori: I think that would be great

Kdaadmin: For those of you who are here - and those reading from home - we can give a synopsis here... but don't quote me - I'll be going from memory!

Stevefu63: could u send me a tape kdaamin to me

MICH: Suzanne...oops sorry I didn't recognize you under that name

doughboy: I think that's wonderful, some of my Dr.'s don't have a clue!

Kdaadmin: No problem.

Billeric: Susanne, having Drs. Kennedy and Fishbeck attend the conferance was the highlight in my opion. They are both outstanding and so approachable.

Peter: Susanne, will it be allowed to translate and post the discussion from the cd on my site?

Kdaadmin: When we determine the price of the tape, then we will advise you all via email and post to the KDA Web site. HOwever, we will require payments made before we will mail a tape.

Kdaadmin: Peter: If you purchase the tape and want to do the transcription yourself, then translate - feel free -

doughboy: What's this Murray was telling me about yesterday about signing up for clinical trials?

Peter: Susanne, yess, I'll try to do so

Kdaadmin: We do not have the time or manpower to transcribe the tapes again. It takes at least 8 hours to transcribe one hour of tape.

Kdaadmin: We have at least 4-5 hours of tape

MikeG entered the room.

Lori: Hi Mike

Jeans: susanne, may be i can to try to translate for France KD

JohnM: My problem would be getting to any of the clinical trials. I don't even try to fly any more.

MikeG: Hi - wow lots of people this time.

doughboy: Where are the clinical trials?

Jeans: hello mike how are you

TerryW: The only problem is the tapes are in NTSC format. We do not have PAK capability

TerryW: PAL

Kdaadmin: I'll just start off by saying, the doctors researchers panel was very promising. They discussed the work in each of the individual labs and this year we can see quite an acceleration in moving forward. Its like a snowball - we've been at these presentations for the last 5 years (1st one at the Families of SMA Conference, then the KDA's own 4 Conferences since being established)

Kdaadmin: Yes, Jean you can also. But you must purchase the tape.

TerryW: do you have access to a NTSC player?

doughboy: Have you ever checked with a transcriptionist to see what the cost would be to have them transcribed?

Kdaadmin: We will be also posting the Doctors/Researchers Presentations to the KDA web site.

Kdaadmin: If you transcribe the tapes and utilize them on your sites, we would expect the KDA to receive credits and links to our site.

Kdaadmin: Credits = recognition

Peter: Terry, I'll check

FL-DON: NTSC?????????

Jeans: susanne, about the tape format, is it possible to purchase DivX for exemple ?

MikeG: I'm good jean - how about you?

TerryW: Don NTSC is the US standard for video format

TerryW: Europe uses PAL

Kdaadmin: I suppose the most meaningful items coming out of the conference is the exploration of drug compounds that may help benefit KD'rs and help "treat" the disease.

FL-DON: OIC

Jeans: mike, as better as possible !

FL-DON: wqho is Kdaadmin?

TerryW: DOn KDAADMIN is Susanne

doughboy: Did I read the word TREAT!

FL-DON: thanks

Stevefu63: //2

JoeK: lets hear about treatments / med!!!

Kdaadmin: There is talk - mind you talk - of a clinical trial starting in the USA in Spring 2005. At this time the doctors are considering a drug called Finasteride that is already FDA approved. It is a Type 2 testosterone blocker. I can't recall the exact type of testosterone - its not coming to me - and I was just talking about this the other day with someone! Finasteride has no reactions in mice, so they are considering just going to human clinical trial as its already approved for use in humans.

doughboy: What's it supposed to do for us!

Kdaadmin: The other drug the doctors/researchers are debating testing is Dutasteride - this treats type 1 and 2... but the real questions are if you suppress type 1 or 2, what else do it do in the KD'rs systems/body?

Kdaadmin: That is what needs to be tested - to see what positive affects it would have, but what negative responses too.

TerryW: Doughboy, it blocks Testosterone

doughboy: Okay, thanks, how do we know if we have types 1 or 2? please forgive my ignorance but I have not studied that.

doughboy: I mean I have 61 repeats does that tell me anything?

Kdaadmin: The NIH is who would be conducting this study in the USA. You can go to their Web site and register to be considered for the clinical trial. I understand it would be most likely a 2 year study as it would take time to see the results. They expect to utilize 40 people - 1/2 on the drug, the other on placebo. They are trying to determine what the measurements would be to determine if the drug was working... strength improvements, etc... If improvement cannot be measured, the study would be futile.

TerryW: Not ignorance, Its hard to learn all this stuff

doughboy: Thanks

Peter: Susanne, would it be possible to take part in this trial from Germany?

Kdaadmin: They also need to determine if in fact they will pursue Finesteride or other drug compounds instead. They are prioritizing drugs and trying to determine which may have the most positive affects. If they are going to run a study that costs $$$$ to run, they want to make sure they are pursuiing the right drug.

Kdaadmin: I have no idea if the NIH will be looking for just USA residents for the trial or international... you can go to their site and register.

Stevefu63: this probabely applies to all SMA? as well as KD;ERS HEY?

JohnM: I find all this talk about treatments for different symptoms very confusing myself.

doughboy: I think I'm going to go on SS disability after the first of year, my neurologist has been recommending for the last 9 months, I think I could do volunteer work at the MDA

MICH: Is their website maybe NIH.com?

Kdaadmin: They will be looking at a target KD'r if you can imagine that - they will need to determine "who" they want - not on a personal basis - but by a pre-determined set of symptoms that the doctors/researchers will want to be part of the study - either early, mid or late progression.... noone knows at this time what that will be - that is still being debated by the researchers.

doughboy: Bruce, your quiet today, r u feeling allright?

FL-DON has left the room.

TerryW: http://www.nih.gov/

doughboy: You usually have some good input for us but none so far today!

Kdaadmin: Everyone has type 1 and 2 testosterone. The question is, since testosterone has been found to aggregavate KD symptoms, the doctors are trying to determine which type is perhaps causing issues... I believe its been narrowed down to type 2... but the one drug inhibits type 2, the other types 1 and 2. The first cannot be tested on mice - it has no affect on mice. The second can be tested on mice and there is a debate to if they should perhaps test that on mice first before going to clinical trial. That's all I can say on that issue.

Bruce: I am fine, thanks. Just interested in what Susanne is updating us on.

Kdaadmin: The number of repeats doesn't really tell us anything except there may be a correlation between number of repeats and earlier age of onset.

doughboy: Yes Sir, I u am too!

doughboy: Okay, thanks Susan

LouLou: I think most of us are quiet today so that we can learn as much as we can about the conference. What is new? Can we help? I know we would all volunteer for any research.

FL-DON entered the room.

Kdaadmin: No - its does not necessarily apply to all SMA. For KD - they've found blocking testosterone in mice (through physical castration) helped symptoms... this is a study done by Dr. Sobue in Japan, and Erica Chevelier Larson in Dr. Merry's lab also found same results.

Stevefu63: ok thanks susanne

Kdaadmin: The KDA needs volunteers also - we are a 100% VOLUNTEER organization. I work full-time and try to keep the KDA going in my spare time which isn't much lately. I've been working extremely long hours (7-9:00 p.m. this last week).

TerryW: thats 7 AM

doughboy: Tell what you nee in the way of help and I'll try to help

Kdaadmin: Lets see - what else did we learn.

FL-DON: I WAS PART OF THE STUDY DONE AT OHIO STATE IN THE 90'S WHERE THEY BLOCKED OUR TESTOSTERONE, AND I GOT EXTREMELY WEAK

LouLou: Hey Hey!! When i said we would all volunteer it was not necessarily about physical castration....LOL

Kdaadmin: That is true - blocking testosterone can make your muscles smaller... but with KD - not blocking testosterone is creating its own set of issues.

Kdaadmin: The question is at WHAT dosage.

doughboy: Thats chemical not physical

Kdaadmin: There are different types of testosterone the body makes.

FL-DON: how can we help you susanne?

Stevefu63: how many neurologist;s from canada at the conferance ????

Kdaadmin: Chemical is the alternative - would you volunteer for a physical castration? SOrry - bad humor!

TerryW: not me

TerryW: //13

Stevefu63: //6 me to

doughboy: about useless anyway, doesn't make much difference

Billeric: Susanne, If I remember correctly,there seems to be a breakthrough by researchers on treating our mouth and swallowing problems. It sounded quite hopeful. Am I correct?

Peter: were there any news available on the Japanesetrial with leuprorelin?

JohnM: I guess I wouldn't miss them any more. //2

Kdaadmin: Don: We would love others to email us and advise us what they feel they could help the KDA with - we especially need help fundraising - it costs Millions for research to really make a dent... we raise about $50,000 a year... not enough - we can help fund seed money to new researchers, small projects, be we are no where close to helping fund the dollars it takes for drug trials. Thankfully, the NIH is goverment funded and we have Dr. Fisschbeck there, who has a soft spot in his heart for KD, who makes sure part of their budget is directed to those researching KD. Also the MDA does help fund some KD research. BUt when you think of the $50 milllion the MDA raises each year, KD may get $200,000 of that.. no enough!

JoeK: I take a shot of testostrone every two weeks, I have been dong it for several years

denny has left the room.

doughboy: Susanne, is that because they can't determine how large a number of KDer's there are?

Kdaadmin: We emailed Dr. Sobue and Dr. Adachi in Japan prior to the conference for an update. There response is as follows:

Kdaadmin: Thank you for your mail on Kennedy’s Diseases association conference. Although we would like to share with you the tentative result of our clinical study, we are not able to attend the conference this year due to avoidable meeting. As you may know, we are carrying out an open trial of leuprolerin, followed by a double-blind study. In the open trial, leuprorelin appears to reduce serum level of creatine kinase, although we have not detect significant change in muscle strength so far. The result of the double-blind trial can not be disclosed, because this study has not be completed. We are going to open the result of our studies to the public and discuss the plan of a new large scale trial with other doctors as soon as possible. We hope that our trial would be a hope for the patients and families of this disease.

LouLou: JoeK--Is the testerone shots helping you stay strong?

Kdaadmin: We believe "avoidable" they meant "unavoidable"

Peter: Thanks, Susanne

JoeK: who knowes

denny entered the room.

Kdaadmin: If I understand things correctly - and I am not a doctor - just a layman like you trying to understand all this stuff~ Leuprorelin treats the type of testosterone created in the testes. Type 1 and 2 testosterone (I know there is a name for it and I can't recall!!!! Darn!!!) is made in our cells throughout the body. So this is testing a different kind of testosterone than the NIH is considering.

Kdaadmin: Doughboy: Not understanding where your question is going regarding not determining number of KDrs out there.

FL-DON: my mda doc took me off the testosterone i was taking for several years due to the danger of cancer growths

doughboy: I mean because they doesn't seem to be a large number of us, the dollars for research is limited!

FL-DON: susanne, could you post the different types of volunteer jobs we can help you with?

Gary_KS has left the room.

FL-DON: on the kda site?

Kdaadmin: Its estimated 1 in 40,000 have KD. In the US this is about 1,400 people. That is a very small number for drug companies to "want" to invest research $$$... What is their return? They are businesses that must turn a profit. So they research for drugs that can treat 1000's if not millions of people. But some of their already developed FDA approved drugs can perhaps treat KD... it just has to be found. And before just trying a bunch of medications... the researchers are trying to determine what is the mechanism(s) that are causing KD issues. They know its clumping of proteins in the axonal transmitters... the molecular chaperones that usually take proteins and dispose of them are not able to do this. This causes the clumping (misfolding of proteins). The question is.. instead of being a gain of function... it creates a loss of function... the researchers want to know why and this is the mystery they are working to solve. They don't know why yet...

Kdaadmin: Testosterone can cause other issues when taken I understand... DOn you mention cancers... I think Prostate cancer is worry on testosterone...

Gary_KS entered the room.

Gary_KS: I was kicked out but managed to come back the room.

doughboy: I was just dianosed with an abnormal size prostrate, firm, but the Blood test showed 0.1 but dr. said that was impossible, only if I didn't have a prostrate would it show that!

FL-DON: also, thew kda issued a recommendation that testosterone use should be discontinued with the consent of your doc. recommendation is on the kda site

Kdaadmin: Doughboy: Yes - the $$$ are limited from the pharmaceutical companies... and yes, probably from the Government, etc... lucky for us there are some funds coming from the government to help fund "Orphan Diseases". KD is considered an "Orphan" disease. These are diseases that are underfunded because their affected populations are small. BUt the US Government has increased funding in the budget for these types of diseases. Without getting Political, I believe this was only recently done under Bush's administration.

Lori has left the room.

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doughboy: Susanne thanks so much , you are so well informed and it's a relief to gain some info hear and you certainly do ythat!

JohnM: I still don't how you do it Susanne, EXCELLENT JOB.

doughboy: Boy my fingers are not pushing right buttons today, lots of mispelled words, sorry!

TerryW: Are people getting knocked out of chat? If so let me know.

Stevefu63: WE ARE ALL SO GRATEFUL TO SUSANNE AND TERRY FOR THERE WORK ON THE KD ASS

LouLou entered the room.

Kdaadmin: There really isn't any "jobs" to help with at this time. Most everything is "done" at Terry and my home... processing of donation checks, inputting them in the computer QuickBooks, fulfilling cookbook orders, etc. etc... but we do have projects and perhaps at the next board meeting the KDA BOD can consider forming committees for certain projects. But where we have been severely lacking the last 3 years is fundraising - ever since Annette Clipman our little spitfire had to pursue other things and could not continue on the KDA board, we have not had anyone pick up where she left off - we need to ask our members for donations, to do fundraisers of their own and send the proceeds to the KDA, have a dinner at your house, invite friends and charge a donation to come... have a golf, bowling, bocchi ball, xxx tournament... etc... etc....

FL-DON: cudos terry & susanne

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Lori entered the room.

Lori: I'm back

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MICH: With out you and KDA I'm sure we'd still be in the dark ages to progressing with info and tests

FL-DON: gotcha susanne

doughboy: Yes we are, because if Susanne is so busy trying to help us, Terry you must be missing out on her giving you much time, thanks for giving up some of ya'lls personal time for us!

Kdaadmin: Don: Where on the KDA site do we recommend not taking testosterone - the KDA makes NO recommendations about any drugs, exercise, etc... We cannot take that type of liability on.... Please let me know - we will have to remove it if it looks like the KDA recommends that!

Jeans entered the room.

Lori: I really think this conference gave us more hopeful answers and really showed the progress that they are making, very exciting.

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Kdaadmin: There are others besides Terry and I to thank... John Coakley, Bruce Gaughran, Ron Wiker, Murray Williams our current BOD> Dr. Merry, Dr. Fischbeck, Dr. La Spada our Scientific Review Board... Past Board members, Patrick Griffin, Annette Clipman, Joseph Grimes... and so many others who have volunteered, raised funds through their athletic or other pursuits, donated to us, bought cookbooks, mugs, shirts, etc... come to conferences and all the researchers around the world working on our behalf!

doughboy: What progress, is it something meaningful for us or for later generations?

LouLou: Susanne--I know what kind of time you and Terry give to the KDA. I just wish we could all share the load to give you all the break you deserve. Thanks for your leadership.

doughboy: Yes, thanks to Bruce, Murray and all of you for helping!

Jeans entered the room.

Stevefu63: yes to all in the kd ass

MICH: At the conference were there advances in studys of the mouth and throat or did I miss seeing Bill's question answered?

Kdaadmin: Lori: You are so right - so much has happened in the last year - its amazing to see where everyone is going and all the researchers seem to be moving more quickly... Research is too slow for me - but it is moving forward!

JoeK: There was a comment that with the rat test testosterone cause more problems.

Jeans: terry it seems that iam unlog because i don't talk

doughboy: Talk

Lori: It really gave me hope for my daughters who are carriers for their future possibilities and the strides that can be made for more options for them.

doughboy: Everyone needs to be heard from

Jeans: I need to listen informations to translate for french KD patients

Kdaadmin: Doughboy: I think there will be some sort of treatment within the next 5 years. Its hopeful for us!!! But future generations may have an actual cure. They have seen in mice that some symptoms of KD can be reversed... that's amazing!!! That's huge hope! No that all symptoms will disappear, and not for everyone would we see the same affects, but if this is the case, then some could even regain some function... if they can just find the right levers and pulleys to push and pull in the right drug and dosage.

FL-DON: susanne, sorry, but i am reading the e-mail from terry that linked 2 studies that "indicate testosterone is responsible for setting in action the toxic effects of the expanded repeat androgen", and that "testosterone may not be good therapy for KD" i did not mean to say kda recomnmended, sorry!

doughboy: I'm eating lunch this week with Murray and he's going to fill me in and he said he brought me some lititure from the conference!

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doughboy: That is encouraging!

doughboy: I thought it might b 2 late for us!

denny entered the room.

Kdaadmin: Thanks Don - we will share research information with you so you can make your own conclusions and do with the information as you will and discuss with your doctors... The KDA doesn't make actual recommendations! I'm glad you clarified!

JohnM: I need some of that help right now. I have had a rapid deteriorating of strength in both my arms and legs during the past few weeks.

Kdaadmin: I wanted to come back to the throat and speech question by Bill Erickson... thanks for reminding me... That was Dr. Richard Smith's presentation from the Center of Neurologic Study at the University of California, San Diego.

doughboy: I'm with you Jogn, my Dr. just sent me more steroids for the pain, I'm so exhausted!

Billeric: I think the non-research part of the conferance was great. Meeting 35 people who walk and talk like us is something else. I picked up several suggestions on how to do small things I had given up on. Truly meaningful.

Kdaadmin: He has been studying "emotionality" in motor neuron disease patients. They've linked this sudden crying and emotionality for no reason to the bulbar part of the brain - an unexpected part of the brain to affect this. Due to KD being SPinal BULBAR muscular atrophy, he had interest in KDrs and has had 1 KD patient for the last 3 years.

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FL-DON: susanne, i'm really looking forward to the tapes when they become available.

doughboy: Thanks to everyone, I have to leave now, good day and take care, God Bless all of you!

Lori: Goodbye Doughboy

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LouLou: So long Doughboy.

FL-DON: i have to cut early today. great chat. appreciate your efforts susanne & terry. bye 4 now

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Kdaadmin: So... Dr. Smith has found ALS and MS patients taking a drug that is about to go to broad FDA drug trials for approval hopefully (Neurodex) was helpful in this area. THe KDr Dr. Smith sees is in his early 50's and he has been taking the drug for 3 years I believe... and he says it has helped him - he believes its why his own speech and swallowing has been better than his affected brother. An interesting study would be for his brother to also start in the drug trial and see if he would improve. Dr. Smith is also interested in perhaps starting a trial with KDrs... but of course this costs $$$ that we don't have. We are going to follow up with him to see what the cost to do so would be.

doughboy has left the room.

Jeans: Susanne and Terry - I had to go now, thank you for your job and your very instructive informations, I try to carry the most exactly possible these informations for the french patients good bye all and take care

Kdaadmin: THanks Jean. WE'll be sending out a transcript of this chat.

Kdaadmin: via email

Kdaadmin: We also had other sessions that were meaninful.

LouLou: Hope everyone stays healthy till next we chat. Must go for now. Bye.

Jeans: thank you Susanne

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Peter: which other sessions?

Kdaadmin: Kevin Phillips from the Ability Center was great and gave great information about finding the right counsel to help you buy equipment you will need 5 years from now, not just make a sale for today.

Billeric: He was GOOD!

Kdaadmin: John Green also did a great job explaining types of medical plans available in the US - HMOs, PPOs, Cafeteria Plans, Medicare, Sups, and also a new hybrid like a Cafeteria Plan, but allowing for greater diversion of tax-free money - will start to show up as an option in 2005 and 2006 from employers - too new to have been incorporated in their offerings yet.

Kdaadmin: We also had the KD Men, Significant Others and Carriers separate break outs. I know this was good for the women to share their issues and solutions. I think it was the same for the men - at least from what I heard from Terry.

Kdaadmin: I think this session needs to be longer... every year,,, when we start to break the ice and everyone starts to participate and starts to go deeper than the surface level... its over.

Lori: I thought it was great just to get some stuff off our shoulders and share whether it be funny or sad, it just shows that other people go through the same type of stuff and how to cope with certain things. Granted, it should be longer.

Kdaadmin: The Banquet dinner was great - but the highlight of the evening was Dr. Kennedy's presentation. He is such a warm and intriguiing person! He gave us the whole story, and nothing but the story, of his research journey during the 1960's and how he searched down family records of KDrs (a new form of disease being recognized at that time by him and a few others). They went to Catholic Churches and graveyards... interviewed family members, etc... to figure out that KD is X-linked. It was a wonderful presentation! Shoot, we should have charged for pictures of attendees with him! That would have been a great fundraiser!

Stevefu63: wow

Kdaadmin: The SIlent Auction at Dinner raised around $2,000. That was great - every year it tends to raise about the same. And others were giving us donation checks throughout the conference and/or buying mugs, Holiday Cards and cookbooks at the fundraising table. Our meeting committee this year did a great job!

Lori: He was a very personable doctor and his presentation was indeed GREAT

Kdaadmin: Well... unfortunately I have to go - Terry will take over - our farrier is here and I have to go hold the horses for him.

JohnM: Very informative chat. Thanks Susanne. Bye.

Kdaadmin: Susanne had to go. This is Terry

Lori: Have to go, will try to make an effort to make more of the chats, see you all later.

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Kdaadmin: I am going to end the chat logging here for the transcript

Billeric: Thanks alot Terry. Wonderful to see you again.

Kdaadmin: Glad you all could join

Kdaadmin: see you all in 2 weeks

Peter: Thanks a lot Terry, bye#

Stevefu63: it was awsome terry

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Kdaadmin: You 2 Bill

Kdaadmin: bye all

END CHAT