My dad had an ALS diagnosis for almost 2 yrs and he called to say that he has a Kennedy's diagnosis now, since Friday's Dr appt. I've read from this site and it seems like his symptoms are severe compared to some on this site, and I guess I just don't understand.
What is the difference? They are both progressive, he has severe bulbar symptoms and each meal he chokes on both liquids and solids, his weight is the lowest ever, his albumin levels are bad. Despite having a "normal" breathing volume test his O2 saturations drop when he is sleeping, so how is it not affecting his breathing?
His balance is horrible, he has had multiple falls, fractured ribs and most recently a compression fracture of his L1 falling off a tractor. He wobbles when he stands still, he moves his arms and legs almost continuously like I would see someone with Parkinsons move, he motions are jerky, he can't walk across a flat floor and stairs are a challenge, once he loses his balance he can't counterbalance.
So i still am puzzled as to why he is thankful this is KD and not ALS? What is the difference? So it is linked to his DNA, and possible mine and I could be a carrier and my 18 yr son a recepient... as opposed to a fluke with the ALS.
Dad stated that it wasn't going to affect his breathing, yet I read on some of the information sites that that isn't necessarily true. That still symptoms and progression are completely individual....
If someone could please share with me the difference I would be tremendously grateful, because right now I can't really see diffeneces only cause to worry now about my own son too.
Thanks and sorry if this seems negative, I just know that someone hear will be able to help me shed the right light on this subject. To make matters worse I am an RN which seems to be that I have alittle bit of knowledge and it makes things more frightening not relieving.
Briefly, ALS is a death sentence, slow and nasty. KD is not.
My understanding is that with a "snapshot in time," ALS and KD might appear very similarly. In fact, ALS is the primary differential diagnosis for KD.
An expert could probably write a book on the differences between the diseases, given that ALS commonly affects both upper motor neurons and lower motor neurons, in contrast to KD which is primarily a lower motor neuron disease. Given that, there are some differences in signs and symptoms when entire populations are studied. I would argue that in one person, those differences might be difficult to pinpoint. If they were easy to differentiate, we wouldn't see so many KD patients initially misdiagnosed with ALS.
The one thing that stands out, however, is that in most cases death occurs within 5 years in ALS, sadly. With KD, lifespan is near normal. Sometimes that might not be too reassuring when the going gets tough, but in my humble opinion, it is the most important distinction to make. It is the one clear line between the myriad of sypmtoms the two diseases have in common.
As for how to deal with KD, I'm the last person from whom I'd take advice. I'm afraid I don't have the first clue. Everyone here knows worlds more about that than I do.
I hope the best for your Dad and your family. Keep us posted.
Laura, Welcome to the Forums. My husband has KD and is 56 years old. We have 3 children (two daughters and one son) and 1 granddaughter. My guess, and it's purely a guess as to why he's glad he has KD and not ALS is that it hopefuly will give him and the rest of the family time to come to terms with the disease and move forward. From my perspective as a wife of a KD patient, I'm thankful we still have time to spend with each other. We made a lot of plans over the 32 years we've been married so there's a lot that we would like to get done. It gives us a reason to get up every day, and he's always trying to think of alternate ways to do what he used to do. The point is we're in this together...the whole family and the KDA is here to support us as we support each other. I'm thankful that you as an RN may not only be able to help those of us with no medical knowledge better understand what is happening but also may be able to "get the word out" to the medical community and raise awareness of this disease.
Thanks for sharing your thoughts in our forum. There are some excellent comments above.
Especially in the beginning (right after the diagnosis) it is difficult to see any blessings with having KD. I am 61 and have KD. At times I am not certain living longer and having a much slower progression are better, but that is just when I am feeling sorry for myself.
Living a somewhat normal life (with some strings attached), however, is a blessing. It just isn't always evident when you are going through one of those periods (weakness and loss of certain muscle capabilities). Once you plateau out again for a few months you begin to accept the new possibly weaker condition. With proper exercise (Smart Exercises) and continued 'smart' activities you can recognize those moments and take a needed break so as to not overdo.
If you have known those with ALS, you recognize the differences immediately. Breathing can become a factor with KD, but proper breathing techniques and daily 'smart' exercises can keep the lungs and heart strong and healthy. Swallowing and choking can also become a factor, but with daily 'smart' exercises and a little bit of restraint (chew more and have liquids available to help wash food down) it doesn't need to be a major issue. I joke about the good advice my mother use to give me (not talking with your mouth full and to chew your food), but it is sound advice.
One comment I need to make is that KD is not the catch-all for any new symptom that might appear. People with KD have heart disease, cancer, gastral intestinal problems, pulled muscles, etc. We are just normal people with a bad gene. If there are signs of breathing problems, have them checked out because it is most likely something not related to KD.
Tremors and spasms come and go. Often they are most pronounced after some hard exercise or strenuous activity. There are also times during our life where they become more prevalent. They are normally the result of motor neurons firing at the wrong time. With close examination of a person with KD, there is always something twitching somewhere on the body especially the arms and legs.
I mentioned in the ALS Forum about the Saturday morning chats. We are fortunate to have Dr. Fischbeck from the National Institute of Health as our guest this coming Saturday. If you have a chance, join us.
Thank you to all for your support and responses. Boy did my post seem negative and self centered. I am very afraid... as most that are on this site are, and my emotions are raw. It's so difficult to watch.. and be a part of... and everyone is looking to me for answers, being the nurse of the family. I don't know... what do I say....
Dad seems in such denial, or maybe I'm in denial, cause he is still taking risks that are causing him harm vs trying to find new ways. I planted a seed that maybe this is a time to be like the foreman, to share his experiences and ideas and let the guys do some of the grunt work at the farm etc, but he is still out doing some of the things that were difficult when he was at full capacity. It seems like we are all watching him in fear of the results of a fall, or an accident. The most recent fall, off the tractor resulted in the burst fracture of his L1 vertebrae, and he was in a full torso brace for the past 10 weeks. Even with the brace on and full warning that a jarring movement may paralyze him from the injured spine, he continued to do things that were harmful and had falls because he'd go without the cane or walker.
What would I do if it were me? More than likely the same thing... stubborness does also seem to be a genetic trait in our family. But how does it happen that he will start to see.... or will he? or will we all just learn to let him be and let an accident happen if it happens? How does one start to accept the disease and learn how to adapt to the changes without fighting?
Thank you for the health information as well. If the breathing is less affected than he may need to further pursue the breathing difficulties. Perhaps as simple as sleep apnea which affects many.
How and when do we share with others, ie my sisters with sons and myself with a son that they may be affected... would it be better to test and be prepared? or to let them be without knowing until symptoms arise?
Being a nurse right now is difficult.... I have to remember that I'm a daughter in this case, not a case manager and let the professionals handle his symptoms, but then again don't we have to be our own health advocates? How often is reasonable for follow up check ups and appts, how often should symptoms be monitored?
Thank you and I'm sorry if I'm venting emotion and not asking the right questions. I'll try to read more carefully some of the other posts, I might find the answers there.
Location: Pocatello, ID
Laura, I hope you don't mind if I answer some of your questions. I am not answering as one with a medical understanding of the disease or one with years of experience dealing with the disease.
I am one of the younger members of this fraternity at 40 years old and yet my symptoms are progressing much more rapidly than the norm.
I have not yet learned to accept the disease or to stop fighting. You see, in my case learning of KD was a mixed blessing. I had become so limited in what I could at work and home but did not know why. I thought I was just out of shape or lazy and I figured everyone around thought the same, so when I found out I had SBMA, I told everyone. It is one way that I deal with it, my way of screaming to the world that I want to work! I want to help! I want to do more! But, I simply can't.
The problem is that I don't feel sick! When I am resting I feel fine. My muscles twitch, but they don't hurt, they don't feel weak. However, everytime I go to use them, I re-discover my limitations. Which leads to the most difficult question I have to answer, "How do you feel?" The answer depends, am I sitting on the couch with the phone on speaker? Then I probably feel "fine". Am I standing and holding the phone to my ear? Then I probably feel like I am about to fall over and my arm aches from the effort of holding the phone.
I don't know if I will ever completely accept this limitations and the adaptions are my way of fighting.
As far as telling family. I don't know the best way. I called my mom's two younger sisters who both have children and told them. One treated me as if I was lying and/or over exagerating. The other made an appt with her family doctor and told him. They decided together not to test, but to watch her children for signs as they get older.
I also told my younger brother (you can read posts regarding that interaction on this site). My mom told my younger sister, when she was 6 months pregnant with her third child and first son. She was teffified. I called her and talked to her and she calmed down.
My advice to my brother and sister was, "Don't get tested, be aware, take care of yourself, exercise (moderately) stay in good physical shape, and plan. Hope for the best and prepare for the worst. Then if years from now symptoms appear, get tested and put you plan into place.
I hope this helps. Frustration, Fear, and Concern are all part of my cycle. But so are Gratitude, Faith, and Optimism.
Laura, thanks for your follow-up comments. Jim did a great job of explaining how he is handling things including communications with family members. Everyone has their own path that they need to follow. There is no right way that I am aware of.
My advice is to talk with a genetic counselor. Most, especially those found at the MDA or NIH have experience with KD and they can help you move forward.
Falls and injuries are part of the learning process. I tracked my falls and injuries on a spreadsheet for nine years. During that period of time I fell 49 times and 37 of those times I experienced some type of injury including several broken bones. Even after all those falls I didn't really learn. It took me two serious falls that forced me to not use my left leg for six months to finally wise up. It wasn't my injury that forced the change (I could tough it out), it was seeing the impact on my wife that finally forced me to wise up (a little anyway).
And, the realization that I can't do something makes me try even harder (stubbornness is a trait I have also).
Also, I am not a doctor, but I have asked the question of my doctor and he does not directly associate sleep apnea with KD. Sleep apnea effects many people throughout the U.S. and most do not have KD. That does not mean that a person with KD can not have sleep apnea. My two brothers and me with KD do not have sleep apnea. My uncle and another brother, both without KD, have it. Back in 2002 we had a chat on sleep apnea and an expert came on to provide his thoughts on the subject. You can read the chat by clicking on this link Sleep Apnea.
By the way, your father is fortunate to have such a loving daughter.This message has been edited. Last edited by: Bruce,
Oh thank you all so much. After posting last night I spent some time on the site and read and reread several things that have calmed some of my raw nerves.
It just seems like this disease is affecting so many people in so many ways. My step mother lost her first husband 20 years ago, a veteran, so she has so many emotions going on. I have 4 stepsisters, who lost their father and now their stepfather is ill. I have 2 sisters also, and after this past fall and injury we banded together. Being in the mind set that ALS was going to be taking him quickly has had us all living in fast motion it seems. There wasn't time to think, but to react. Now I need to take some time and digest all that I've read. And bring some of this knowledge and relief to the rest of the family.
I've appreciated that so many of the stories and posts have such positive and uplifting messages. I enjoyed the journal entries from John with his sense of humor and wit. I too have to remember that there are blessings in this mess somewhere. It might take some time to find them but I'm sure they are there.
Learning to live life one day at a time is diffinitly a difficult lesson to learn; and to be satisfied that we did the best that we can each day.
I appreciate the strength and courage that I read in the personal stories of you the men that are living with this disease. You are giving so much to me and I'm sure to the others that visit this site, thank you for your gift.
I've been in alarm mode, due to another personal loss earlier this summer and so my feelings seem intensified by that new knowledge that life is overwhelmingly tough at times. I have to remember that although I don't know the plan for me, my family, my son, or my dad, that there is a far greater plan in place than I can imagine.
Thank you all. This site is a blessing.
I've of course been doing some reading here and some more thinking and is states several places that symptoms begin usually 20-30's. My son was a big wrestler, and the last year of high school after any difficult match he would come off the mats shaking. It seemed like low blood sugar or muscle fatigue shaking and sometimes sugar would help it. He is right now in Georgia, just finishing up with basic training in the ARMY. What are some of the thoughts about over using muscles and the advancement of the disease? Would it be advantagous to limit extreme exercise in order to decrease the progression of the disease or the earlier onset? Just wondering what might be out there. I'll keep reading.
Age of onset is an arbitrary number. There has been reports of teenagers showing signs. There are other reports of men in their sixties that first showed signs. Each case is dependent on many different things including the number of CAG repeats.
For me, I noticed the change in the late twenties and early thirties, but it was not significant enough to become concerned. I was just slowing down ... getting a little older ... etc. (all kinds of excuses).
Yes, you can do more harm than good if you over-exercise, but for someone in the teens or early twenties it should not be an issue. I believe the worst thing you can do is to back-off too early and use the disease as an excuse. I know that when I was in my early thirties that I was in the best shape I have ever been in.
A person needs to become aware of his limitations at some point, but it might not become an issue until the 40's, 50's or even 60's.
Will the EMG reading be different in Kennedys compared to ALS?
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614