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Kennedy's Disease Chat Transcript

3-24-01

Topics: General Discussion, Open Forum


Chat Participants:

  • Gryphon
  • Teda
  • Billerickson
  • Bobh
  • Jean
  • kdfl
  • mikeg
  • toddrallen


Begin Chat


bobh -- {welcome bobh}

teda -- {welcome teda}

jean -- {welcome jean}

bobh -- First time for me, testing 1,2,3

jean -- Hello Teda, Hello Bobh I am Jean from Belgium. Where are you from?

Is it your first chat?

bobh -- First chat here - I'm from San Luis Obispo, California

kdfl -- {welcome kdfl}

bobh -- I guess the old hands show up at 7:29:39

bobh -- This chat is upside down to any other I've been in - kind of strange

gryphon -- {welcome gryphon}

teda -- this is my first chat. I'm from CA

bobh -- teda - where in California are you

teda -- Redwood City that's between San Francisco and San Jose

gryphon -- My brother lives in Mountain View. Which side of the Bay is Redwood City?

teda -- The west side between the bay and ocean

gryphon -- Ted, I've probably been by or through Redwood City, but it seems to be all one city to me, a poor rural kind of guy.

teda -- If you travel from SF to SJ you went right through RWC

gryphon -- Hello, my name is Patrick Griffin. You can call me Patrick, or you can call

me Pat, whichever you prefer. I'm the moderator today. So behave! ;-)

gryphon -- Hello everyone. This is a general session. All topics are up for discussion.

billerickson -- {welcome billerickson}

gryphon -- As we chat, remember that the transcript will be cleaned up and disassociated topics will be pulled together. Don't worry about maintaining a thread if more than one idea are discussed.

kdfl -- My name is John and I'm in Sun City Center, FL

jean -- Hello John who is the weather in Florida, next week we pass our holidays on the Dominican Rep.

kdfl -- Jean, we are starting to have some pretty good weather here. The warmer weather is really good for me.

jean -- John I know, the cold European winters are one off my greatest enemy

kdfl -- Jean, my hands seem to be the most affected. They don't want to work when they get cold.

gryphon -- Cold seems to cause many KD patients to suffer greater symptoms. There seems to be some disagreement whether it affects the muscles themselves because of simple reduced circulation due to vasoconstriction, or if it directly affects the nerves. Any comments?

jean -- John- Me also. I also have problems to speak when I outside for a longer time by cold weather.

billerickson -- I have the same problem with cold. Fingers get stiff and the muscles around my mouth tighten

kdfl -- Jean, speech isn't too much of a problem for me as I don't stay out long enough to do much talking.

teda -- doing things like writing when my hands get a little bite cold makes it even harder

kdfl -- I don't do much writing anymore either. That's what computers are for.

gryphon -- Re handwriting- mine has really deteriorated. I can write a little, then my

hands and fingers get tired, and it becomes almost indecipherable.

bobh -- Handwriting-same with me. My keyboarding is still going OK thank God.

bobh -- keyboarding = keyboarding. Does KD affect spelling

mikeg -- Pat, are you still able to write in script or do you print everything like me?

gryphon -- Mike, I tend to print everything except my signature. I also use capital

letters, as that seems easy. If I have to do any length writing - I use the telephone

of email.

mikeg -- Same here.

bobh -- I use the computer whenever possible. If I have a form to fill out I scan it and type over the blanks.

kdfl -- Bob, what is keyboarding?

kdfl -- Bob, question answered!!!!

gryphon -- As you notice, my keyboarding is full of mistakes. I used to be very fast and accurate, now I make mistakes often. I transpose letters, hit keys twice, capitalize the first couple of letters, etc. It seems as if my fingers move without 100% control.

billerickson -- Good morning folks

gryphon -- While we chat, keep this in mind. We are looking for topics for future chat sessions that you would like to know more about. Please feel free to make suggestions.

bobh -- Topic Suggestions - get Dr.Fischbeck back online twice a year or so. Find other researchers that may want to participate.

gryphon -- Good idea about the researchers. Also, a doctor or other medical professional who has experience in dealing with KD or ALS may be able to provide valuable insight.

gryphon -- Some researchers like research, but do not treat many patients. Some doctors treat patients but have relatively little knowledge of KD...

gryphon -- I have 'met' a physical therapist who has training and experience dealing with neuromuscular patients. Her father had ALS and she herself has fibromyalgia. I'll contact her to see if she'd agree to participate in a chat.

bobh -- Docs - dr-fischbeck may have some pointers to others. Maybe we could answer some of THEIR questions?

bobh -- Topics-Having someone on that has insight into gene therapy, and possible applications to KD would be interesting.

teda -- Topic More information on research being done to break the chain of KD as I have other relatives and they have children and want to stop passing KD on now that we know that our grandfather had KD and not ALS

toddrallen -- teda, men with KD should not have daughters, you can't pass it on to a son.

gryphon -- Kd is an X-linked genetic disease. If a male has KD, he can only pass the trait to his daughters. If he has only sons (and some fertility clinics can advise you on how to do that), then the KD trait in his family line can be stopped.

toddrallen -- Me, I just had a vasectomy, seemed simpler.

gryphon -- As far as women carriers (all of whom have a 50% chance of passing the trait to both sexes of children), I have a friend who is a fertility researcher. At this point, there does not seem to be a way to have only KD-free children, naturally.

gryphon -- One can have a amniocentesis after pregnancy is establish, and abort a fetus with the KD trait, and try again. However, that has severe ethical implications.

bobh -- Hopefully by the time a fetus today gets to its 3rd or 4th decade KD will be curable.

gryphon -- Or a carrier can obtain egg cells from a donor (non-carrier sister, etc.), impregnate it with husband's sperm, and implant for a natural childbirth.

mikeg -- {welcome mikeg}

jean -- Pat Do you have news about the questionnaire

gryphon -- I'm finalizing the questionnaire. My computer was down for a week and it set me back. I'm trying to make it very worthwhile - not just a random assemblage of questions.

jean -- Pat it is not in my mind to hurry you. Take all the time you need. It is only my curiosity

mikeg -- Hello from Atlanta, GA

gryphon -- We have received requests for clinics that do the DNA tests. I've developed a list, although I know it is not all conclusive. I'll add it to the chat, and we'll be adding it to the KDA web site, and adding to it as we go. If you know of any such labs in your area, please send it to Susan Waite. - Athena Diagnostics, Inc., Reference Lab, Worcester, MA; Contact: William K. Seltzer, Ph.D., FACMG - Auckland Hospital, Molecular

Genetics Laboratory, New Zealand; Contact: Don Love, Ph.D. - Baylor College of Medicine, DNA Diagnostic Laboratory, Houston, TX; Contact: Benjamin B. Roa, Ph.D. - Boston University School of Medicine, Center for Human Genetics, Boston, MA; Contact: Aubrey Milunsky, MD, DSc - Carolinas Medical Center, DNA Diagnostic Laboratory, Charlotte, NC; Contact: Charlotte A. Brown, Ph.D. - Chapman Institute of Medical Genetics, DNA Laboratory, Tulsa, OK; Contact: Nancy J. Carpenter, Ph.D.; Frederick V. Schaefer, Ph.D. - Comprehensive Genetic Services, SC, Molecular Diagnostic Laboratory, Milwaukee, WI; Contact: Tony Garber, Ph.D. - Dianon Systems,

Molecular Genetics Laboratory, Stratford, CT Perry Chan, Ph.D. - Hospital

for Sick Children, Molecular Genetics Laboratory, Toronto, Ontario,

Canada; Contact: Peter N. Ray, Ph.D. - IWK Grace Health Center, Molecular

Diagnostic Laboratory, Halifax, Nova Scotia, Canada; Contact: D. Christie

Riddell, Ph.D. - Lab. "Dr. F. Echevarne", Department of Genetics, Spain

Jose I. Lao, MD - Mayo Clinic, Molecular Genetics Laboratory, Rochester,

MN; Contact: Karen Snow, Ph.D.; Stephen N. Thibodeau, Ph.D. - University

of Roma Tor Vergata, Servizio di Genetica, Italy; Contact: Giuseppe

Novelli, Ph.D.; Federica Sangiuolo, Ph.D.

bobh -- Are all the labs opposed to doing blind tests - I have some distant relatives that would like the test but even taking the test scares the insurance companies.

gryphon -- Some genetic counselors may be able to help you get a genetic test. Some will do it so that the results are given to you, and not made part of your 'official' medical record. However, realize that to keep it confidential, you may have to pay out of pocket, and not have your insurance pay for the test...

bobh -- It's a difficult question as to when to test offspring. Especially considering insurance bias from that day forward.

jean -- John Are you still working

kdfl -- Jean, no, I have been retired since 1992.

toddrallen -- {welcome toddrallen}

billerickson -- I would really appreciate a list of exercises from someone with KD knowledge

toddrallen -- About 6 weeks ago I began in earnest to try and get in good physical shape again.

gryphon -- I'' see if I can get a list of simple exercises and stretches that we can work with. If anyone has any ideas, send them to me: This email address is being protected from spambots. You need JavaScript enabled to view it. .

toddrallen -- When I started it was a struggle to jog 1/2 a mile in 10 minutes. This morning I just managed 2.5 miles in 25 minutes.

toddrallen -- I had to quit exercising about 2 years ago due to repeated joint injuries. I started taking Glucosamine Chondroiton (drugstore over the counter stuff) and it has helped me a lot with my joints.

jean -- everybody, I makes twice a week exercise with a masseur, but their was no difference, only a few ideas to maintain my muscles. So I stop it.

toddrallen -- As part of my exercise program I've been taking Creatine, Adrostendione (supposedly converts to testosterone), multivitamin, protein powder and the Glucosamine. The combination is working very well for me.

kdfl -- I haven't gotten a regular exercise program yet either. I don't want to weaken myself any more than I am now.

toddrallen -- At first my cramps were much more severe, but at least I felt stronger. Now my cramps have subsided to normal and I have much more endurance strength to cope with them.

billerickson -- I have a tendency not to exercise for fear it will sap my strength

toddrallen -- The biggest difference I'm doing now in exercise is that I'm focused much more on flexibility/endurance than on actual strength.

teda -- My best exercise is done in the spa were the hot water sooths the muscles and the water offers resistance to my leg and arm movements

mikeg -- I used to work out on a NordicTrack 3 time a week and I was able to keep up my strength and keep down my weight, now that I have cut back to 3 times a month everything has gone downhill...

toddrallen -- In college I used to lift weights and would struggle to keep up in poundage with the other guys. I peaked at about 225 for 10 reps on the bench press.

jean -- toddrallen- who old are you

toddrallen -- 37

toddrallen -- Now I try to lift a weight which I can do a minimum of 20-25 reps. This means I work out at very low weights and I'm no longer injuring myself.

gryphon -- As far as exercise, I've noticed that when I get busy or do other physical things, my muscles get crampy and sore for the next few days. That is to be expected, but many times my whole body also is tired. Does anyone else have the whole-body tiredness?

bobh -- Free weight poundage and rep decreases over the years provided a pretty clear diagnostic tool for my Doctor. I was going down about 10 lbs a year on max weight

teda -- My other exercise is extreme stair climbing and I got a chair lift

for home so I do a lot less climbing

toddrallen -- Yes, I was feeling severely depleted for the first couple weeks doing very light workouts. Could barely function for the rest of the day. I was in agony for the first couple days. I probably should have started off even slower.

toddrallen -- Now, in only 6 weeks I'm back to where I was about 4 years ago and feel like I am no where near plateauing yet.

bobh -- Whole body-If I'm out and about more than normal I get that. Thankfully me daily work hasn't done that to me yet.

mikeg -- It only takes me about 15 minutes of outside activity to get tired. Even walking is hard. I used to run 10Ks every month - now I would be doing good to walk 1K.

toddrallen -- I was to the point where simply standing for 10 minutes was extremely unpleasant. Hanging/putting away a basket of laundry was an ordeal.

gryphon -- I used to be very active: running 5 to 10 miles a day, backpacking, physical labor. The first thing I loss was my strength - I couldn't sprint or lift as much. My endurance let me run long s=distances, but not fast. Then I gradually lost basic strength in my claves, which stopped my running, I walked and rode bikes, then that ability gradually

gave way. Is losing "brute" strength first, and endurance last common?

jean -- Everybody Since I use the drug RILUTEK I recuperate very fast

gryphon -- Jean- tell us more about RILUTEK. That is a subject in the ALS

area. How does it work for you, what is your dosage, are there any after-effects?

jean -- Pat Right it is a "ALS drug". My neurologist propose me to test it. 2/day, I reduce myself the dosage to 1/day; I have 60Kg. Since this time I recuperate in one night. The active agent of RILUTEK is RILUZOL

toddrallen -- I think the Androstendione must get some of the credit, I've never had my muscles react so dramatically to exercise in the past. However, it is supposed to be fairly risky to take. I'm following the 3 weeks on 1 week off protocol.

gryphon -- I've tried androstendione, which is a precursor/producer of testosterone, as I understand it.

mikeg -- Pat, I guess so, that's what happened to me.

toddrallen -- The worst side effect I've noticed so far (I suppose this depends on your own circumstances) is that it has made me kind of sex obsessed at about the level of when I was 18.

gryphon -- Todd- that sounds good to me, but as I live alone and my girlfriend is 200 miles a way, I might suffer anxiety attacks! ;-)

bobh -- Strength then endurance - that's what happen in my case as well.

billerickson -- My feet are the first thing to give out lately when I walk any distance. I expect arch muscles are giving out

toddrallen -- Pat your description of strength loss very much mirrored my own experiences, except that injuries accelerated my pace of deterioration.

mikeg -- I was told by my doctor to be careful not to strain muscles by doing too much. You only have nerves attached to a limited number of muscles and you could over work adjacent muscles next to muscles that have no nerve connection. -if that makes sense...

gryphon -- Mike- I've heard the same thing. Exercise, but not to the point where you feel pain the next day.

gryphon -- Bill- when I could walk pretty normally a few years ago, I used to suffer sprained ankles a lot, especially if the ground was uneven.

toddrallen -- I had a terrible time with ankle sprains. I wear ankle braces now which worked wonders.

billerickson -- Todd-are the ankle braces cloth or plastic?

toddrallen -- My ankle braces are a canvas like fabric that have pockets for thin flat plastic stiffening inserts on the sides. They lace up the front and can be worn comfortably inside a pair of gym shoes (even while running).

gryphon -- Muscles grow by being torn down (which causes the painful feeling) and then regrowing stronger. One theory is that androgen

insensitivity impairs the muscle cell regrowth, leaving you with weaker muscles.

toddrallen -- I'd contradict that not to the point where you feel pain. Muscular pain I think is fine, perhaps even good, the key is not to damage any other tissues while your muscles are too weak to properly support them. Thus be extremely careful not to push hard when fatigued and don't do excessive weight or resistances even when not tired.

mikeg -- Can anyone still stand on their tiptoes? That is the muscle I need. It's throwing off my balance.

jean -- Mikeg no it is not possible since I' 42 years old

toddrallen -- I can go on my tiptoes momentarily but not well, I have hurt the joints in my big toes by trying it at times.

teda -- After just doing chores around the house many I can't even get up on my tiptoes

bobh -- tiptoes- Not me. I have trouble leaving a flat hard surface when walking. Balance is an issue too.

billerickson -- No tip toes for me for some time

gryphon -- I lost my ability to go up on my right toes, but I could hold the position once there. Then it progressed to the point where I couldn't hold myself up. Same thing followed on my left leg.

kdfl -- No tiptoes for me either. I also have AFOs (Ankle/foot Orthotic) for both of my ankles.

gryphon -- Todd- there is evidence that injuries promote earlier o (or more progressive) symptoms in both KD, ALS, and other such neuromuscular diseases. For example, I ruptured a disk and had severe light leg symptoms. When I started having KD symptoms, they started with my right leg. Anyone else?

gryphon -- light=right

toddrallen -- I hurt my knees skiing about 10 years ago and then again repeated the injuries in many other activities over the next few years. It got very bad a couple years ago to where I was ready to quit walking. I credit the Glucosamine in large part, my knees were crunchy and notchy and would pop painfully just using the clutch of my car.

toddrallen -- Now they don't hurt, even after a pretty vigorous run.

gryphon -- My balance has really deteriorated relatively recently. When ever I turn around, or turn a corner without consciously watching my balance, I tend to fall.

bobh -- Its hard to know what symptoms are KD related and which are not.

toddrallen -- My balance is very bad when I first wake up and sometimes at

the end of the day. But it has gotten much better while I'm active.

bobh -- Run-That's a distant memory for me - even fast walking is out.

gryphon -- I used to love to ski. Nothing quite like it. The first thing I noticed was that my quadriceps started getting really tired fast. I haven't skied for some time. I've seen handicapped skiers, and I think it would be fun to try the sitting skis.

billerickson -- I agree with bobh

teda -- I have not skied in 4 years and use to be able to do 25 days a season

kdfl -- Since breaking my left foot in a fall last October, I have been very cautious in my walking, using a walker or my scooter to get around.

jean -- Who of you has pain?

toddrallen -- I get muscle cramps which can be quite painful although they typically last only about 5 minutes or so.

kdfl -- I have no pain at all.

bobh -- I have some loss of feeling in hands and feet, probably due to extra weight, but no pain.

teda -- I have most of my pain in my thighs and but area, even have trouble sleeping after 7 hours in bed Have to sleep on my back and can only be on one of my sides for a few minutes

gryphon -- Jean- I have pain, also related to spasms/cramps. Also pain in my back, but that is due to my three surgeries there.

billerickson -- I don't have any pain other than when I walk too much-and this is foot related pain

mikeg -- I don't have constant pain but if I've been sitting in one position for a long time I have pain in my lower back when I get up.

jean -- To everybody who has pain, Never use a drug like PARACETAMOL,

PHENACTIN OR TERMINATE ON -GOT or -AN (Perdolan)

jean -- Pat It is very bad for our stomach

mikeg -- To everyone who has pain: try Vioxx (if you can afford it!)

gryphon -- I use Tylenol #3 (Tylenol with codeine) if I have a bad headache relating to neck spasms, or if my back is hurting really bad.

toddrallen -- Yeah, neck spasms are one of the worst, second only to abdominal cramps for me, or maybe the occasional really bad one in the thigh.

gryphon -- Some times my neck cramps so bad, my head is pulled almost to my shoulder. When that happens, it usually does that a number of times and the next day, that muscle is really sore.

gryphon -- How about the early days. Were any of you sprinters, high jumpers, discus throwers, or hurdlers? For example, when I ran track in high school, I was much better at long distances that at the strength/acceleration events.

mikeg -- When I got my Pilot's license years ago the Flight Surgeon had me hop on one foot for a minute or two and ten the other foot for the same time. When the test was over asked him why he had me do it. I thought it

seemed so easy. Now I couldn't do it if my life depended on it!

toddrallen -- I also used to run distance in high school / college, I was always the slowest guy in my class at sprinting.

jean -- I was a good sprinter and also a good long distance runner. My favorite sport was soccer and handball

mikeg -- I used to be good at distance running too. Real good in the 880.

teda -- in high school I was high jumper and high hurdles but that was 30+ years ago. Ran cross county to help keep in shape in the fall and winter

gryphon -- How about physical size. Were any of you big and muscular when young? I weighed 140 when I graduated high school - was pretty small statured. My brother, a non-KD type, was a bigger baby and bigger in high school, etc.

mikeg -- I was about the same size: 130-140

bobh -- My brother and were similar in size and strength - he's non-KD.

toddrallen -- I peaked at 170lbs (5'10") when weight lift 1-2 hours per day in college. My buddies all got much bigger, even though I ate like a pig.

billerickson -- I weighed about 150 when I graduated from high school and rather muscular in build.

teda -- I was 130 to 140 most of my adult life and now I'm 165 and always been 6' tall

bobh -- I was heavier 170 at 5'11"

kdfl -- Trying to get back.

bobh -- 170 in high school, 210 now

jean -- 60 Kg and 1,65 great

gryphon -- Does anyone use any muscle relaxants? My doctor has prescribed a couple for me that helps when my muscles are cramped bad or I get really twitchy.

mikeg -- DayPro for me - it really works.

toddrallen -- I tried quinine, but it didn't help.

kdfl -- {goodbye kdfl}

kdfl -- {welcome kdfl}

mikeg -- I used to get BAD leg cramps while sleeping. They would wake the dead!

gryphon -- I also get those bad abdomen cramps. It usually is right under my rib cage, and is very hard to stretch out to relieve.

teda -- My pain in my thighs and butt area is continuous only at varies levels depending on what I did or are doing at any particular time

gryphon -- We're getting close to the end of our time. You can sign off, or we can go until they close us down. I'll stay 'til the end.

toddrallen -- My neck cramps have pretty much disappeared in the last month. I'm still getting the abdomen ones when I bend to tie my shoe laces or other things where I stay bent for too long. Funny though I'm back up to 25 sit-ups on a 45 degree incline at the gym..

jean -- Years ago I had very often cramps, but now no more

gryphon -- Maybe ten years ago I had those same kind of cramps in my legs at night. I thought I was dehydrated or not stretching enough, but nothing helped. Now I think it was an early KD sign.

bobh -- My cramps have slacked off as well

gryphon -- My doctor tells me to stay hydrated- drink a lot of water. But then I got to pee all the time.... and it's a pain to get up and run to the restroom so often. What's a guy going to do?? :-(

toddrallen -- I have the frequent urination problem too. Even more annoying is its drippy. Hard to start, hard to be sure it's truly done.

gryphon -- That's an area for discussion, although somewhat .... supposedly KD affects the muscles in the legs etc. However, does it also affect the bladder and rectum muscles, too?

toddrallen -- I know that my control over both bladder and sphincter isslowly diminishing, I'm assuming faster than is typical for just normal aging.

toddrallen -- Although in what little I've read in research papers doesn't yet offer any documentation for those symptoms.

gryphon -- Todd - you hit on the big question - how does one differentiate "normal" deterioration of the muscles and joints from that caused by KD?

toddrallen -- And the normal deterioration of the nervous system due to aging as well.. Although I suspect a lot of "normal" age related deterioration is due to "less than perfect genes" in many cases.

mikeg -- How many are planning to go to FSMA in Chicago?

toddrallen -- I'm going.

billerickson -- I doubt if I can go

toddrallen -- I live in Chicago, so if someone needs a place to stay or just wants to get together, e-mail me This email address is being protected from spambots. You need JavaScript enabled to view it.

gryphon -- Todd- I may take you up on that offer. I also have some distant cousins in the Chicago metro area (my Mom's side of the family), but I haven't contacted them yet, so I'll keep in touch.

toddrallen -- Pat, ok, let me know how it goes. If I remember right the conference isn't till June.

gryphon -- OK, Todd. I'll let you know ASAP.

jean -- Toddrallen Thanks for the invitation, maybe an other time

mikeg -- Great! I hope to see everyone there. I have another MDA activity to go to now. Our local adult group is getting together in Atlanta for a depression symposium. Until next time. Hang in there... Thanks, Pat.

jean -- mikeg Sorry I life in Europe/Belgium and my English is not so good

gryphon -- Jean- your English is better than mine, I think. My feeling is that European schooled are ahead of American schools in that most Europeans can speak more than one language, and Americans can barely handle English.

toddrallen -- Jean your English is almost better than mine, und ganz besser als mein Deutsch.

gryphon -- Ich spreche venig Deutsch.


End Chat