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Jul 25, 2007
Learn about ALS
I finally got a diagnosis, not sure if I fully understand what it means at this point though. I had a number of tests done after the negative EMG was done a number of weeks ago. These tests were aimed at testing the autonomic nerves. It did show that this group of nerves is being affected. My doctor explained that I have a rare inherited form of an autonomic nerve disorder, although he has not given it a name as of yet. He believes that my father had this same disorder, even though he had been diagnosed with ALS. He believes he did not die from ALS, but rather this disorder. I know when my father was going to the ALS clinic at the time trying to get a diagnosed, the doctor did not want to give him the diagnosed of ALS, he kept saying, your symptoms do not fit in place like I would expect them to. My doctor feels that he was seeing what I am experiencing, same types of symptoms, but with the wrong set of nerves in the body. This disorder affects the nerves you have no control over. So far it has affected my liver, pancreas, bladder, heart, intestines and sweat glands. In fact, the small fiber nerves that operate the sweat glands in the lower half of my body no longer work at all. Bad thing about all this is I cannot seem to find much about this on the internet. It's all so it's not too convincing either. It leaves me very depressed, mixed feelings, angry that this is happening to me, if my doctor feels my father passed away from this and I have it, is this supposed to make me feel better, just because he does not feel my father had ALS? He also wants me to talk to my other family members because he beleives there has to be others with this same disorder in the family. He explained that this is something that is extremely rare and I should be very happy that they found it. He seems excited and wants to check us all out. I can't be excited about something I know so little about. I am so depressed, and I don't know if it's the Topomax he has me on making me this depressed or just the shock of the diagnosis and trying to accept it. There is no cure, I am told that stress accelerates it, do you manage that! I feel cheated, so so cheated, I've been a good person all my life, did what I've been taught, took care of both my parents so they could die in their own home, and now I have to deal with this. Why....................THis is so unfair to my family..............I'm sorry, you all have so much more to worry about It's just that I don't know where else to turn,
Oh babe, I am so sorry. You are right! It is not fair when bad things happen to good people. There probably isn't a spot on the internet for your rare disorder so if we are able to help in any way stick with us! At the very least we can confirm that, yes, it stinks and yes, you have a right to be upset. cordially, Cindy
Babe - first, I am really sorry that you are so upset with this diagnosis. I don't blame you for feeling that way. Forgive me if I am way off base, but when I researched this a few weeks ago all I could find is dysautonomia which is usually only seen in people of Jewish descent. Are you of Jewish descent? It does seem that there is nothing much to do but symptomatic control, which may save your life.

Babe - first, I am really sorry that you are so upset with this diagnosis. I don't blame you for feeling that way. Forgive me if I am way off base, but when I researched this a few weeks ago all I could find is dysautonomia which is usually only seen in people of Jewish descent. Are you of Jewish descent? It does seem that there is nothing much to do but symptomatic control, which may save your life.

That's the problem, I can't seem to find what he is referring to, I suppose I am rushing things, I've been waiting two years, being tested and tested and tested waiting for answers. Now I have an answer, does not sound too promising, and leaves still all kinds of questions. I am compiling a list of questions for the next time I see him. What upsets me the most is the idea that my children have a chance of having this also. I am not of jewish descent at all, roman catholic, german heritage both sides of the family, so I don't believe he is referring to dysautonomia. I looked on a website for rare autonomal nerve disorders and none of the others seem to fit the bill, so it leaves me wondering and waiting. Froedert Hospital in Milwaukee is actually where I am going for all my testing and I have been on their website numerous times and have not found anything too helpful as of yet.
We have another member, Elissa, who also has a very rare disorder. As bad as MND is, at least there are clinics and other patients and people get an idea of what to expect and how to cope. I am sorry that both of you have this extra challenge. Cindy
Swallow study results today

My doctor ordered a swallow study and the results show that I have early stages of ALS.
I have bilateral weakness in my tongue, my swallowing mechanism is very weak and there
is a dead area in my throat that no longer works, each time I swallow fluids, a small amount pools and ends up going into my windpipe, hence why I cough allot. They stated to me that if it's any consolation, it's early that's supposed to make me feel better, and yet my doctor has not called to confirm this diagnosis. what am I supposed to believe, I am devastated to say the least...............
Oh Qualitybabe...I am so sorry. If you are not on an antidepressant already, maybe you should consider talking to your doctor to try one. Wellbutrin worked for me, and you have to keep yourself healthy and, as you said, stress is not helpful.

I don't know what to tell you except for the fact that there are people here on this forum who can truly relate and care and can help you through this. They can help you gain much insight and direction on your journey. We all have different journeys, just some of us have the timeline more defined than others. Do like your name says and focus on "quality", for yourself and your family.

I have a friend who is also a grief counselor for terminal cancer patients and she told me this weekend that she had a patient diagnosed with three months to live. When my friend came to the hospital to see her, she asked her "are you ready to die?" and she said "no". My friend replied "why not?", and she told her that she wanted to see her kids grown. So, 13 years later when her kids were grown (just a couple months ago) she passed away and moved on. She savored EVERY MOMENT of that 13 years tried each day to put QUALITY into her life and not take things for grantite and my friend said that she enjoyed that 13 years much more than most people enjoy a long lifetime. Somehow, for some reason, it seems like the people that have serious illnesses just have much better perspective and "get it" more than those that walk around never being faced with their own mortality. You are in my thoughts, my prayers and so is your family. So mourn this frustration and loss, because you are entitled to, but be gentle on yourself and remember that you are NEVER alone.
Thank you for the kind words....

I have been through every feeling you can imagine today, from anger to total numbness, no feeling at all. My husband and I are not talking, it hurts too much to talk about it....makes it too real, my youngest, she's 15 said, it will be ok mom, we just have a name for it now, that's all, it has not changed anything.....pretty wise of her I think.....the worst thing about all this is what it will do to my children....I can't bare to think of them without a mother. I lost my mom just last year and I'm 45 years old, that was so hard, my kids are 15, 17 and 23, I don't even have my first grandchild yet.........I don't mean to sound like I am on a pity train right now but I am very angry at this point, problem is, who do I get angry at? I can't be angry at my father for giving me ALS, I can't get angry at the doctor's, they are only trying to help me, I can't get angry at God, he didn't do this, so who do I channel this at? How do I get past this point? And then, How do I get past the point of feeling so much despair and go on with normal life? I wish today never came.
Words of wisdom, be careful what you wish for when looking for may not like what you hear....I know it's all stages I need to go through, just need to take 1 day at a time. Today just isn't a good one. God I ask you to help me get through this day and help me to be patient and learn to accept the things I cannot change and learn to live 1 day at a time.
Babe, remember that it is YOUR right to feel all things - it is OK to have bad days... Just remember that when you have the good days - share them with love and laughter with your children. There is no time clock with ALS, every case is different. Use your time wisely.. Bad days will come again, but time will take care of your own greiving process - you must allow yourself to grieve over the loss of your own life as you 'expected' it turn out and then change your expectations. You are very correct - Take it one day at a time. Personally, I grieve at night when alone and in the morning I celebrate a new day. Sounds corny - but does seem to work for me - I truly enjoy my mornings - as soon I can pull up the strength to get it started! :-D Don
Hi babe- so sorry you are going through this bad patch. You will feel better in time, I am sure of it. Hug your family and give yourself time to grieve. You have just had the rug ripped out from under your feet but you'll bounce back in time. Cordially, Cindy
Babe - who gave you that diagnosis if not the doc? I would hate to think that one of the technicians gave you the diagnosis based on their findings. I haven't heard of a diagnosis of als from a swallowing study. Even though your dad had it, without the positive EMG's, it could be something else. I know you are scared, but wait for all the testing and see what the neurologist says....if the doc hasn't confirmed it, then don't give in to that diagnosis yet! :)
Update on Dx

Well, allot has happened in the past week. I had a swallow study done on Monday, my neuro had it ordered at the local hospital, results showed that I had bilateral weakness in my tongue with a 50% Deficit in strength and ROM, 50% Deficit in my pharyngeal swallow relflex and a 25% deficit in the muscle rom and strength in the back of my throat, bottom line is that fluid and food tend to pool in my throat and my swallow strength is reduced. The speech therapist also did an evaluation and told me that there is a 25% deficit in the muscle strength around the corners of my lower jaw around my mouth. She stated that I was exhibiting the early signs of either MS or ALS. My Neuro had already ruled out MS with many earlier tests, however, ALS was still a question. The speech therapist stated she was recommending speech and swallow therapy to assist in strengthening these muscles to help maintain what I have for as long as possible. This was devastating news to me and my family. I contacted my neuro's office and told them I needed him to call me asap. I did not hear from them until Wed, and then it was his nurse that called. He stated that the doc had read the report and all looked good and he would see me in Dec. I was furious. I was not very nice to the nurse, I felt bad but I needed to talk to the doctor. The Doc finally called later that afternoon, when I finally got to talk to him, he could not even remember ordering the swallow test, and then admitted to only briefly looking it over, he never really read the results. How could he do that and have his nurse call and tell me all was good! I was livid to say the least. I told him in no uncertain terms what the speech therapist told me. He got upset and said it's not a case hear of who is right and who is wrong, I said your right, but it is a case of who is going to finally figure out what is wrong with me so that we can deal with it. I got very upset and told him I have been seeing you for 2 years and am getting no where, just get my medical files ready and I will pick them up and go somewhere else where they can maybe figure out what is wrong with me because I feel we are wasting precious time.

Long story short, he begged me to come in for a few more tests, so, now, next Wed I go for another swallow study, but this time at his hospital and then the following week he is doing an EMG on my neck and face, he stated he does not believe the results of the swallow study done here at the local hospital.

In the meantime, I made an appointment at the Mayo clinic in Rochester MN in the ALS department of Neurology for in November. The appointment is with the same Neuro that diagnosed my father who died of Bulbar form ALS back in 1995 so he has all the family records. I feel if there is a chance that this is familial in any way, all the info is already there.

I know in my heart that my body is slowing giving out on me and I need to get this thing figured out so we know what we must do. I just thought I would give everyone and update. I appreciate with all my heart all the support I have been shown. God bless everyone on this website.
Babe - your doc has a technician, or anybody at the hospital should have told you that you have early signs of ALS. In fact, I would have them fired if I was the doc. Look how upset you are over it and they are not doctors! I am really glad that you have made an appointment at Mayo. Maybe that will give you answers and hopefully rule out ALS. Please, don't dwell on what that technician told you. I have had the same thing happen and they are not usually right.

I'm trying not to dwell on it, my husband and I have been doing allot of talking and we are both going to try to take on the mind set that whatever it is, it will get diagnosed eventually and I need to focus on the NOW, and stop worrying about tomorrow. I feel better since I made the appointment at Mayo, not sure why, I just do. SO for now, we will go along with the testing and focus on living, there will be plenty of time for mourning and sorrow if need be, right? Thanks again.
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