Diagnosis: Autonomic Nerve Disorder

[qualitybabe823]

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 dx, the doctor did not want to give him the dx 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 vague.....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, great..............how 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,

[CindyM]

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

[ltr]

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.

[pmbenb83]

Babe,
I found this website, which you may have already come across, but thought I would pass it along to you. If you haven't seen it yet, I hope it provides some helpful information.

Take care.
Pam B in Va

http://www.wrongdiagnosis.com/a/autonomic_nerve_disorders/treatments.htm

[qualitybabe823]

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.

[CindyM]

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

[qualitybabe823]

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 stage.......like 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...............

[Midnight]

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.

[qualitybabe823]

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 answers......you 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.

[AngelManFL]

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

[CindyM]

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

[ltr]

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! :)

[qualitybabe823]

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.

[ltr]

Babe - your doc has a point.....no 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.

[qualitybabe823]

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 dx 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.

[qualitybabe823]

Well, my neuro did not trust the results of the swallow study he ordered here at the local hospital so today I am going to Froedert to have a second study done. I will update on the results when I return. It's wierd, but at night when I start to feel really fatigued, it's hard for me to speak clearly, I have to make a concious effort, my tongue just does not want to cooperate. I hope it's good news today.

[ltr]

So do we Babe.....will be thinking of you today. Good luck.

[CindyM]

Hello htere. Are you back from your appointment? I am hoping you have some good news to share...Cindy

[qualitybabe823]

Well, it is fairly good news, depending how you look at it. This time they were very thorough, they explained everything to me and video taped it and let me watch it when it was over and talked me through it all as I watched, it was awesome and the speech therapist that set it all up should get some kind of reward for her kindness and compassion. My epiglottis (I think that's how you spell it) is not working properly, it is supposed to flap down over the trachea when I swallow, the nerves in it sense food and it automatically closes over it. In my case, solids will push it down over the opening, but when I drink liquids, it has a 2-3 second delay, hence the liquid goes on past it before it closes the opening, this is why I tend to aspirate small amounts. She said it's not a big deal, she saw no weakness in the back of my throat, althought, my tongue does show some weakness, it's very mild. They then tested my esophogus, that's where I get the lump in my throat feeling from. The muscles in my esophogus are not all working. THere are deadend spots where the food lands and sits, when I take another bite, it pushes the food past that point and then it will hit another spot just like it. THis type of muscle issue can not only be a neurologic problem but acid reflex can cause this type of damage, I have had acid reflux for about 4 years, so I am chalking it up to that. They may want to do another test on these particular muscles, but this time lying down, this way gravity does not play into it, only those muscles. I am optimistic, so is my husband, he actually hugged the therapist today, boy was she surprized! I also discussed the fact that I have an appointment at the MAYO clinic, she thought that was a very good idea given my history and family background. So like I said, depending how you look at it, IT"S GOOD NEWS! :) We will look at it this way for now, or at least until they prove differently.

[CindyM]

I am so glad you got a good report! Plus, with your attitude, you should be able to cope with whatever may happen in the future. :) THanks for the good news. We can always use a little of that around here! Cindy

[qualitybabe823]

Yeah, I am finding that it is easier to be optimistic than sad all the time, I physically feel better. Right now Positive thoughts are needed, no matter what illness anyone has, mental attitude has allot to do with it. So we'll keep smiling and hoping.

[qualitybabe823]

Well, after the swallow study of last week, this week I had a Nerve Conduction test done on my throat, not fun. It showed my Neuro that I do have weakness in my tongue on both sides, a delayed swallow reflex. He is concerned about these findings and the fact that my esophogus has dead areas where the muscles are not working. But he still insists that I have a rare inherited Autonomic Nerve Disorder. I asked him with all the swallow results and the Nerve Conduction Test on my tongue along with the fasciculations in my entire body if this could all be due to Autonomic Nerves, he said yes, mine are hyperactive. The lower half of my body the nerves are damaged, I no longer sweat there, thus why I have muscle rigidity and cramping in both legs and foot drop in both feet. I don't know, I want to believe him, but something keeps telling me that there is something else going on. My right arm muscles are cramping ALL THE TIME, my thumbs will lock up onto my palms at times and I feel like they are weak, but he tells me they are not. Then how come I have problems holding on to paper at times, I drop things periodically. I told him, ok, then what do we do about this? He asked me to give him a day or two to consult with another Neurologist (Dr. Barkhaus, he is the head of the ALS clinic there) along with the Speech therapist and see if they can come up with some medication that will assist the nerve damage in my lower half of my body and the swallowing issues. My husband and I will go along with this for a while to see if there is any improvement or stop of the progression, he said that it should help. But if it doesn't, then we will move on to Mayo Clinic to get a second opinion. We will remain hopeful at this point, it's easier and less stressful than the alternative. We figure this, in time, we will know......Just thought an update was needed on my condition. The worst part is now I feel like I've swallowed a tennis ball, the muscles in my throat and tongue are spasming. I know one thing for sure, I'm really sick of being someone's science experiment. :)

[crystalkk]

babe,
I read before on someones post that hot tea helps with the throat spasms.
I swear these tests make symtoms worst.
How did they do the emg or nerve conduction in those areas?

crystalkk

[qualitybabe823]

He did it externally with a rather long needle, first he went under my chin to stimulate my tongue, asked me to push my tongue left and right and then hold it to the left in my mouth. It became very intense as the test went along, then he placed the needle just to right side of the front of my throat, almost where the addam's apple would be in a man, this was very painful as the test went on. My throat started to spasm along with my tongue. It's still doing it today, I feel like I have a hard golf ball stuck in there, I found that warm liquids helps to relax it but its only temporary. In the swallow study, they foung that my esophogus has areas that are not working, food will stop in 3-4 spots the full lenght of it and the only way it got it to move was to drink something to push it down. I asked if he was going to test this further, he said the test is very painful and uncomfortable and he felt there was already enough evidence from the swallow study that he did not want to put me through it. I am awaiting a phone call from his office today, he is consulting with another DR to see if there is some sort of medication they can start me on. He had a real concerned look on his face when he completed this test. His statement was this, " I think for now, we will say this is all due to the autonomic Nerve Disorder and continue to monitor." It did not sound real confident to me. The scary part is that my father passed away 11 years ago after being diagnosed with Bulbar onset ALS. It took him over 2 years to get diagnosed, when he was finally dx, they told him he had 2 years or less left. He passed away 14 months later. I am scared, he had all the same symptoms that I am having, and yet my Dr does not beleive it's ALS. He also does not beleive my father had it, but that I definitely inherited this disorder from him. I"m trying to be positve, but it's really hard, deep inside, I am scared to death of what my future holds, I try not to let it out, especially around my family. So, we will try whatever he recommends and see if things improve or continue to get worse, if worse, then we will get another opinion.