Kennedy's Disease Association

A Public Benefit, Non-Profit Organization

"The web site acted as a central organizing influence for the sharing of information and brotherhood. Without the KDA, I was alone, as this disease is very rare and even my neurologist was less than fully knowledgeable."

Archives - 2015 and Older Transcripts

Kennedy's Disease Chat Transcript


Topics: SBMA carriers and their concerns

Chat Participants:

  • susannew
  • jean s
  • jean
  • don48312
  • rol
  • fergi
  • mgoynes
  • michael
  • maria
  • gary
  • bob
  • yves
  • smiley


Begin Chat

susannew -- {welcome susannew}

don48312 -- {welcome don48312}

don48312 -- hi sue

susannew -- Good morning Don.

don48312 -- can i ask u a question sue?

don48312 -- is the chat every other sat or is it the 2nd and 4th sat?.

susannew -- The chats are generally every 2 weeks unless there is a major

holiday. We did not hold chats due to Christmas and Thanksgiving.

don48312 -- the KD site and the MDA chat area are not clear on that distinction as far as I could tell!

jean-s -- {welcome jean-s}

susannew -- On the Kennedy's Disease Chat site, it does not definitively state every other week, but every date that a chat will be held for the next month and a half is listed!

susannew -- I'm not sure how the MDA has it listed. We'll have to look at it after this chat.

don48312 -- somehow, I had it set up in my 2000 calendar as every other week, and when we hit 2001, I was off. cant figure out why

susannew -- Whenever you're in doubt, just go to the Kennedy's Disease Chat page and it will list the date and what the topic is.

don48312 -- but if a person wants to put in calendar so as not to schedule other things, looking at specific dates every time is confusing

fergi -- {welcome fergi}

susannew -- Good morning Fergi and Jean S.

smiley -- {welcome smiley}

jean-s -- Hi, everybody for this first KD chat of the year

smiley -- Happy New year to all.

susannew -- Good morning Smiley.

rol -- {welcome rol}

fergi -- Good afternoon in Spain

don48312 -- hi fernando my friend

susannew -- Good morning Rol... is this Rolf?

fergi -- Hi, Don and all peoples on KD chat

don48312 -- I must leave chat today at 11:45. sorry, previous commitments

smiley -- Do we have any carriers on line yet?

susannew -- Everyone is a carrier. However, do we have any female carriers in the chat yet?

fergi -- I have my daughter Susanne (23 years old) with me

susannew -- Clarification: Everyone with SBMA is a carrier.

smiley -- Guess that is what I meant. I am a female carrier.

susannew -- Thanks Fergi for inviting her to join us.

fergi -- She is carrier and know all about KD and its problems

smiley -- Fergi: If you do not mind me asking when did you tell your daughter? How old etc.

fergi -- She also told with her boyfriend about KD and is very close her

susannew -- Was it difficult to share with her boyfriend?

susannew -- Fergi: Was your daughter tested as being a carrier?

fergi -- My daughter Susanne, follow my illness at home since fist, so she know all that she have to do in the near future

susannew -- Fergi: How would you recommend a female carrier, who does not have symptoms or a male with symptoms in the family, tell advise their

children, both female and male, that they may have inherited the SBMA gene?

fergi -- we, do not have the test for family council, but if I have the illness, she is sure 100% carrier

rol -- hi to everyone from Germany its me rolf

mgoynes -- {welcome mgoynes}

susannew -- Hello Mike.

mgoynes -- Hello from Atlanta, GA

don48312 -- hello from Sun City Center, FL

jean-s -- Hello Mike

maria -- {welcome maria}

susannew -- Good morning Maria. Thank you for joining us.

bob -- {welcome bob}

mgoynes -- Has anyone had the drug Mestinon prescribed for them? My neurologist said for me to give it a try.

susannew -- Mike: We know of one gentleman who was taking it with growth hormones. We can put you in touch with him. He is a doctor himself.

mgoynes -- Ok, thanks. I figured what the heck - it had no side effects and the Dr. said it was better than Creatine which has done me NO good at all (that I can tell) so why not give it a try. I'm taking 3 a day.

jean-s -- Mike, I follow that chat session for my daughter who cannot be there today. She is doctor and knows all about KD.

mgoynes -- Hi Jean. How are you doing?

susannew -- Fergi: You are so right! Its so early here, I'm don't have my thinking cap on yet!

susannew -- Good Morning Bob. Where are you from?

bob -- Good morning I'm from the UK

smiley -- Question to anyone: How do you get through the guilt when you may have passed KD on to your children. Mine are too young to know yet but I worry everyday.

susannew -- I ask Terry's mother, who feels guilty for passing this on, to let that go. Its not her or your fault. I know this is such light advice, but you cannot be blamed for something you did not know or could not prevent.

fergi -- My younger daughter (Ana Cristina 11 years old) know something but she's very young to take consciencia about that.

michael -- {welcome michael}

maria -- Smiley, it's the same for me. we have to accept that there are many more things that they may have inherited that would be far worse than this. The symptoms may not be too severe (my Dad lived to 76 and only really suffered in the last few years) and we may have a cure in the not too distant future so hopefully our little ones will never have to suffer.

I am a carrier and have a boy aged 2.5 and a girl of 1.

jean-s -- smiley : It is very difficult to think :I am the involuntary cause of problem for my daughter. But unfortunately there is no possibility to change, only accept.

smiley -- So glad you joined us Maria. I am a Mom with a 2 1/2 year old boy and 4 1/2 year old girl and I am a carrier. Thanks for you input.

susannew -- Maria, do you have any plans of how you might tell your children they might have or carry SBMA?

maria -- I really don't know. They're too young to understand yet but I don't want to wait until their teens as they will have enough to deal with then and I don't want to risk being presented with any unplanned grandchildren before I've had a chance to tell them.

rol -- I have the same problem and no idea what to tell my daughter (4)

mgoynes -- Hopefully there will be a cure in the not too distant future and we can all stop worrying about it!!!

susannew -- Yes, Mike, that is the hope.

susannew -- Does anyone else have any suggestions for Smiley, Maria or Fergi's daughter. This is a tough subject for them. (Even if it is years in the future.)

jean -- To Smiley and Maria ...Do not tell your children about the disease, because their have many beautiful years without problems to live. Later it will be time enough ...

maria -- it may be easier to make it an open issue from an early age - explain that their grand dad had this disease and they may have it too but that lots of people are working at finding a cure. If they want to be tested later then I will ensure it is done privately to protect them.

jean-s -- I think like Jean, when children are very young it is not necessary worry them about KD, but when they think about their future (profession, way of life) it is necessary to explain us the problems they can encounter.

susannew -- I can understand the testing part. That is tricky. Terry just said they need to know so they can plan their future. I say no testing.

maria -- why no testing Susanne?

susannew -- They can live their lives assuming they may have SBMA, planning their financial futures. But, testing should not be done since there is no cure or treatment, what does it serve other than to satisfy their curiosity. Confirmation of SBMA may hurt their insurability for life, health and disability.

maria -- what if the testing is private and they do not have to disclose the information then?

susannew -- I wrote to a couple labs to see if testing could be done privately. They wrote back that they cannot do the test without a doctor, but were not clear about keeping the results private other than the doctor. I have to clarify. We need a "home" SBMA test kit like they do for Aids.

maria -- my genetic consultant will see people from overseas on a private basis for reasons that have been mentioned (i.e. keep it 'off record') but cannot see me on the same basis!

smiley -- It is terrible that we all have to worry how insurance will effect our children later in life if something is found out early. But so true of insurance companies.

smiley -- I heard you have to be very careful because even if they say the test is private, I think there is still a way to do a check to find out of previous illness.

rol -- Susanne : you can abort your pregnancy in Germany when the child is a KD carrier

smiley -- I think it is years of planting seeds about KD. Just don't know how to get started when they are so young.

michael -- I have a twin sister who tested pos. with SBMA. She has three boys,a all in there late teens and early twenties. She will not tell them, or get them tested. I asked her why? and she said when the right time comes, when ever that is....

mgoynes -- Michael, I have the same situation. My sister has 2 sons and a daughter. Both of the boys are now in their early twenties and have not seen any symptoms yet. She has had cancer and knows what insurance companies will do if the genetic blood test is ever performed on any of her children.

michael -- mgoynes-- May be better to wait and see if they have symptoms, why worry them if they don't have it...

mgoynes -- michael: that's true. Out of the 4 brothers in my family, three of us have it and the youngest brother does not.

susannew -- Michael, I guess I'm the ultimate planner. I would be

concerned that if they started to show symptoms, sometimes not until 35, 45... it might be too late to have planned career and financially.

michael -- Susanna, they are all in college starting there life, and knowing them they want to be very successful. I think that if you put an extra stress on them, It might hurt them in a way.

susannew -- Michael: I think all decisions need to be based on what each individual is judged to be best for them. Not everyone has the maturity or emotional level to deal with this. I wouldn't want to create unnecessary worrying. Its quite a dilemma.

smiley -- I flip flop back and forth whether to tell them early or not.

susannew -- We were caught off-guard with Terry. No one in his family had shown symptoms. We're assuming it went from female to female to female to Terry! So we were not prepared financially.

maria -- perhaps we parents of potential sufferers should start saving to help them in the future

susannew -- The last four years, ever since we learned of SBMA and thought about our future with it has affected many of our decisions.

fergi -- I told to my daughter, she could choose the sex of her children ,

bob -- My wife and I have told our 2 daughters they are both carriers.

They are aged 13 & 16. The time was right to tell them. In some respects because I am a sufferer it made it easier to explain - they both took it in their stride.

fergi -- I have a sister older than me that has 4 daughters and 3 sons.  I am not sure if tell her something about my disease, because her children are all between 20 and 30 years old. The lucky is made and nothing to do.

susannew -- Fergi, your sister does not know of your disease? You may want to tell her. I think it is important for her to know there is a possibility she is a carrier.

fergi -- susannew, my sister know , of course my disease, but only by my symptoms, She do not know how can affect she or her children .I'm afraid to tell her, can become to have preoccupations.

susannew -- Fergi: That is a tough decision. It is yours to make.

maria -- I feel that daughters who could be carriers should be informed and tested as they need to make decisions before they decide whether to start a family. Will a confirmation of carrier status affect their records?

susannew -- I believe those who might have KD should know about its possibility. So that they can be prudent in their decisions financially and like someone mentioned earlier, career choices. I don't think you should be limited, but if you might have KD symptoms later, you might want to consider a career that would not come to an end if you started to show symptoms. Such as heavy labor, roofer, etc.

mgoynes -- Well stated, Susanne

jean -- children over 20 years must be informed to plan their future, like children, construction of a house ...

susannew -- Since women generally do not show symptoms, I would assume it would not affect them insurance wise. But I am no expert and cannot answer that question. That would be best posed to a knowledgeable insurance agent in health, life and disability.

smiley -- Wow, I never knew there were so many with KD until Susanne and Terry. Thank God for both of you opening up and sharing with us all.

jean -- {welcome jean}

susannew -- The Kennedy's Disease Association has been getting contacted from about one person with Kennedy's a week. It is truly amazing to find others with KD out there! We felt so alone before!

susannew -- Good morning Michael and Jean. Where are you from?

michael -- Good morning to all

michael -- I am from PA

susannew -- Michael from PA, are you on the Kennedy's Disease Association's mailing list?

michael -- Yes I am.

jean -- hello everybody, I hope the new millennium start successful for you all. I am Jean from BELGIUM

yves -- {welcome yves}

susannew -- Bonjour Yves.

yves -- how are you in this new year, every body

susannew -- Off to a good start. Thank you Yves.

jean-s -- hello jean

jean-s -- Hello Yves

smiley -- Thanks to you jean S. I am starting to feel not so alone.

yves -- jean -s - hello

fergi -- Yves, hello from Madrid

yves -- My daughter often speak about PGD ( Pre-implantation, Genetic Diagnosis. Do you know

susannew -- Yves, is this where you can review your developing child's traits and if not acceptable, abort the pregnancy? This is being done in Europe now?

yves -- susannew - Is SBMA is relevant of PGD, in US

susannew -- Yves, I do not believe the US allows PGD if it is what I think it is... Would you confirm what it is.

yves -- Thank to confirm me

yves -- PGD is a vitro fertilization to create embryo outside, tested and transferred to the uterus

jean-s -- Yves, I think unfortunately PGD is not applicable for this kind of disease. do you have any precise information about that

yves -- Jean -J : PGD is recently authorized in France and in U.K there are a doctor who respond on the net This email address is being protected from spambots. You need JavaScript enabled to view it.

yves -- I thing PGD is better than abort

rol -- yves: so do I but in Germany it is forbidden.

yves -- rol :In French its use in critical case ( Huntingdon)

jean -- {welcome jean}

bob -- I know of a 39 year old here in the UK who is now wheelchair bound and has lost a great deal of his upper body strength. He worked as a farm laborer he has no job now and no training for another career.

smiley -- Maybe we should raise our children to have a back up career as well. Just in case KD shows up.

susannew -- Terry and I began to put money away and stop spending as much on "junk". We also decided, that we need to move from our condo with only 2nd floor access to a home that he could get in easily. We also stopped ourselves from buying a larger home, with a big price tag, and to stay in our home which is comfortable and affordable even with him on full time disability, losing 40% of his income.

jean-s -- I bought my house before I was diagnosed, luckily that an house without stages

susannew -- Yes, a one-story living area is highly recommended.

maria -- Susanne, what is the earliest age you have heard of symptoms starting?

smiley -- Maria: Think my Uncle was in his 30's.

jean -- My brother has symptoms at his 20th and I only at my 38th. So I think wait the manifestation of the disease is not a good idea. Today a simple DNA test can prevent.   susannew -- The earliest we have heard of minor symptoms... teens. The ones that start to really affect an individual is at 29 in our database.

jean -- Maria by my uncle first symptoms appears at his 18th

susannew -- Terry showed signs: couldn't run far, choking, in his early twenties.

smiley -- Guess it is important to tell our children early on in case they get symptoms at a early age.

jean -- smiley A personal advice. Let profit the children from their youth. When symptoms appeared or they begin to plan their "adult live" talk about. Be strong and good luck

jean-s -- Some signs was present earlier (20th) but they are not cause of handicap.

susannew -- I suppose the debate truly is: Is it better to live life in ignorance (no worries) or in knowledge of potential SBMA (chance to plan). They both have their own benefits.

michael -- Susanne I agree....

fergi -- I also have 5 brothers male all older than me, and no one has developed any symptoms of KD.

fergi -- Now, I am always attempt to observe the symptoms in my male family in silence, only when somebody tells me any symptoms like KD symptoms ,

thus will tell him about KD

bob -- I know there is no point in trying to preserve ones strength by being labile but In my opinion you can by doing heavy work slow the weakness.

maria -- did Dr Fischbeck suggest a cure would be found in 5-10 years or was it only treatment for this? I guess even a cure would not reverse symptoms already manifesting themselves

jean-s -- That is the great question ! can we sure that in 5-10 years a cure will be find for our children and grandchildren !

susannew -- There is no guarantee a cure or treatment will be found in 5-10 years. Only that with all the gene breakthroughs it seems possible.

susannew -- All we can say is that the more funds gathered for research the quicker the testing of different avenues can go.

jean-s -- Susanne, I think so, only wait and hope ! and be optimistic

bob -- Do any of you carriers have any symptoms? My Mother suffered with cramp particularly in her legs. I have not told my daughters yet that they might suffer some symptoms.

susannew -- Thank you Bob for bringing this topic up. We know of 2 women who have symptoms.

smiley -- I have twitching throughout my body mostly in arms and legs. Doctors say it is not from KD and not sure why I have it. I am 37 and heard of a few other women carriers with similar symptoms. Wonder is it KD only time will tell and maybe doctors will get more info.

mgoynes -- smiley: is the twitching only when you are going to sleep at night? My wife has a lot of twitching at night.

smiley -- Mgoynes: Twitching usually happens all day and some through the night. Doesn't hurt just sometimes distracting.

mgoynes -- That's very interesting. I'll ask my Mother if she twitches.

susannew -- MikeG: Terry twitches when he tries to fall asleep. It drives him nuts. His mother also has this, she thought it was normal for everyone... until now.

bob -- I also twitch a lot, this is apart from muscle fasciculation's which are evidence of lower motor neuron disease.

rol -- I found no symptoms by female carriers in my family 82 persons)

fergi -- My mother, died in 1997, told me about her strong cramps in hers legs. They could be a clear symptoms that she was carrier, but she doesn't know anything about KD or something like that

maria -- I don't have any symptoms yet. A friend explained why this happens but I am going to check with my consultant to see if this can be tested for. I want to know so I can plan my future.

mgoynes -- bob: my Mother is 83 and has never had any of the symptoms.

susannew -- Rolf: Those holiday dinners must be tough to get everyone seated at the table! LOL

rol -- to susannew replace the 8 by ( sorry

bob -- Thanks everyone for your input re Carriers with symptoms.

smiley -- Doctors do not seem to know much about female carriers. Hard to know what is what.

yves -- suzannew - Have you some contacts with others American muscular disease Association?

susannew -- Yves: Not really. I have a friend who works for the MDA in their fundraising.

susannew -- However, the KDA does have contact with over 25 SBMA researchers.

maria -- how can we help raise funds? have you thought of holding a raffle or prize draw? I help raise money for the RNIB over here and they raised 4 million pounds last year through raffle ticket sales.

fergi -- A question for all. Somebody has problems with digestion of meal. That is my last problem.

susannew -- Is the stomach considered a muscle?

fergi -- I think so. In effect there are many muscles working in digestion process

susannew -- I believe all muscles are affected with SBMA.

jean-s -- fergi : no particular problem for me

susannew -- Terry has no problems with digestion. Swallowing is tough for him, especially when he has a cold or swallowing dry foods like bread.

jean-s -- Susanne : I think the stomach is a kind of muscle not affected by KD liver, heart or breathing

fergi -- I discovered last days I take a lot of time to make the digest process. I learned that have to go bed at least 4 hours after have dinner. If not, I have very bad nights

michael -- I have a question for any one who has experience this. at the end of a day I put my change in a jar. well when it is filled up, I count the change put them wrappers and take them to the bank and cash them in.  well in the process of counting the change, My fingers started to get  numb. the more I counted the more numb they got .

susannew -- Terry's fingers go numb typing, writing with a pen, working with small objects or even holding the shopping cart's handle.

michael -- I was wondering if the metal had something to do with it?

susannew -- michael: I don't believe its the metal. We believe its the use of your fingers.

susannew -- Actually, we have read that later in life, the lungs are affected with KD and that respiratory problems are an issue. Avoiding colds, flues, pneumonia is a must at any age especially with KD. We have heard of 3 individuals who have passed away due to complications due to colds/flu that went into pneumonia.

jean -- I (44) also have many problem with my fingers. My uncle also passed away because he couldn't no longer breath without technical help

mgoynes -- That's exactly how both of my Uncles died - pneumonia. They both had KD.

susannew -- Has any of your handwriting been affected? Is it "sloppy" looking?

rol -- I'm the only person who can read my handwriting

susannew -- Rolf: Is that because you're a doctor? LOL

jean-s -- Susanne : my handwriting is absolutely unreadable after few minutes !

michael -- Susanne It takes me longer to write, and yes it is a bit sloppy.

smiley -- Could some finger and problems also be carpool tunnel. Sorry not sure on the spelling.

susannew -- Smiley: I don't believe that Carpal Tunnel Syndrome is the reason a lot of those with SBMA have finger problems. I think it relates back to the muscles being exhausted so quickly.

smiley -- I was told I have Carpal Tunnel. Just wondered if carriers have this symptom which is it? Carpal Tunnel or KD symptom?

susannew -- Smiley, your doctor would have to be the judge. Call me at (805) 577-9591 and we can discuss in more detail. Its hard to describe what Terry goes through with his fingers in typed words. They simply stop working. The dexterity is lost for about 10 minutes. Like his legs when they run out of steam.

jean -- Susannew I 44 have enormous problems by handwriting

bob -- my hand writing is poor (it matches my spelling) and gets worse the more I write then I get cramp.

susannew -- Terry's handwriting is illegible after a few minutes.

mgoynes -- At 52, I can't even read my OWN handwriting!

fergi -- I can write well, but I'm not able to retired from floor little

pieces like pencils or minor. Only with my left hand. the right works quite well

jean -- fergi write. One hand is more affected than the other

mgoynes -- My fingers give out when the temperature goes down below about 50 degrees.

fergi -- Also is the same with my legs. The right is stronger than left one

susannew -- We have information about a woman carrier with symptoms posted to the Kennedy's Disease Association's message board. I'm sorry that she is not here with us today. You can get there by going to:

michael -- mgoynes what part of GA are you from?

mgoynes -- Roswell. Just north of Atlanta by about 25 miles.

michael -- Hey I am going to visit my sister in Marietta in the later part of May. Would it be ok to visit you?

mgoynes -- michael: Sure - be glad to have you over! Give me a call 770-645-1285

michael -- mgoynes Great I'll treat you to dinner or lunch. I'll give you a call a week before we come down..

mgoynes -- sounds good I'll talk to you later.

maria -- do we have any more specialists joining us in the near future for the chat?

susannew -- Maria: We have asked for researchers to join us. We have had one state they would join us, but we have not been able to get a date. We'll keep trying!

smiley -- Speaking of chats do we have a schedule for future chats?

susannew -- To see the schedule of future chats, please go to the web site:

susannew -- Generally the chats are held every other week, same time same place, except for major holidays.

susannew -- Terry just told me to tell you Major US holidays... Easter, Christmas, Thanksgiving, Fourth of July, Veterans Day, Memorial Day

smiley -- Thanks to everyone that gave advise on when to tell children. I will take all into consideration.

jean -- Smiley- A E-Mail address from a family in the same situation like you. I think they will appreciate a contact with you This email address is being protected from spambots. You need JavaScript enabled to view it.

susannew -- We have 15 minutes left. Are there any other questions or issues you'd like to raise?

mgoynes -- I would like to thank Terry and Susanne for all of their efforts in putting together such a great way for all of us to share our ideas.

susannew -- Thanks Mike. We appreciate everyone's support. Patrick Griffin is also on the BOD for the KDA. He could not be with us today.

maria -- any ideas for fundraising? will we really be able to make a difference?

michael -- Susanne when will Dr. Merry be on our chat?

susannew -- I'm not sure when Dr. Merry will have time to join us on a chat. We will keep you posted!

mgoynes -- Until next time - good luck and hang in there! A cure is just around the corner.

mgoynes -- {goodbye mgoynes}

susannew -- We can all make a difference. Please email me directly to discuss: This email address is being protected from spambots. You need JavaScript enabled to view it.

jean-s -- For all, thank you for this interesting chat, bye and take care

jean-s -- {goodbye jean-s}

susannew -- If there are not other issues or questions, I suggest we close. Do I hear a second?

jean -- Thanks everyone and hope meet you over 2 weeks on the same place

maria -- thanks Susanne and all.

smiley -- Yes, I second. Bye to all have a good week.

susannew -- The next chat's topic will be spouses and significant others. Would you invite them to join in the discussion. I'm not allowing Terry though! I won't be as honest in front of him. LOL.

maria -- {goodbye maria}

susannew -- Good bye to all. Have a great week!

bob -- By all, just to tell you that here in the UK were are doing our bit. The MNDA have had Kennedy's mice for some years and are also looking for a cure.