Frustrated and feel like I'll never know

[qualitybabe823]

First let me give you a bit of history, my father died of ALS in 1995, he was diagnosed in 1993 after 2 years of testing. When he did finally get his dx, he was given 2 years to live, he made it 14 months. He had Bulbar form ALS, it all started on the top of his head and face. We pulled his family records, as his mother had all the same types of symptoms, only it started in her lower extremities. Back in those days they did not know about ALS, so it's only speculation as to whether she truly had it.

Now on to me, 2 years ago I started having muscle cramping in my calves and thighs. My feet would twist up into knots, I would literally have to reach down and pull them out with my hands. My walking became robotic in nature, I had to really think about walking. My family doctor gave me a referral to the Neurology department of a University hospital. I have gone through every kind of test, I've had MRI's of my head, neck and complete spine, found nothing. They have tested me with EMG and EEG and have diagnosed me with Peripheral Neuropathy. THey found my MMA levels to be extremely elevated in the blood so they started me on B12 shots. I did the B12 shots for roughly 7 months, it seems my symptoms did not progress or recede during that time. Now my MMA levels are normal, so no more shots. I now have profound weakness in my right arm that started around April of this year. I was referred back to my family doctor as they had no explanation for what is happening to me. I saw my family doctor last week, and was shocked at what he said to me. He stated that I should not be concerned as to WHY this is happening, and that we are going to try to fight it instead. The way I look at it, HOW do you know how to fight it if you don't know the root cause???? SO anyway, he has put me on a regiman of walking 2 miles in 30 min 3 times a week and alternate physical therapy the days in between taking 1 day to rest. I have done the walking for a week and I feel my legs getting weaker, I went to physical therapy today and they did an evaluation on me. My right side, arm, hand, leg and foot are remarkedly weaker than my left. This is unusual as I am right handed. THey told me I have foot drop in both feet and atrophy of the muscles in my feet, (I have extremely HIGH arches) I have actually dropped 1.5 shoe sizes in the past 1.5 years and yet have not lost any weight. Given my family history, I try hard not to think ALS, but I lived through and took care of my father, I know it like I know the back of my hand and I am scared to death. I just want someone to listen to me and take me seriously. I need to know what is happening to me.....I feel myself getting weaker day by day, little by little, I try to look at the future, but if I feel this bad now, where will I be next year? I have fasciculations in the muscles of my legs, arms, feet and even in the palms of my hands, they are random and don't seem to coincide with any activities. I have problems swallowing pills, they seem to collect in my throat, if I don't drink large quantities of water, they don't go down. I sometimes aspirate on my own saliva.

I am in the process of trying to obtain my father's medical records, what I want to do is take his records and mine and try to find a doctor who will take me seriously. DOes anyone out there know how I would go about obtaining my father's medical records, both my parents are deceased so it's not like I can have my mother obtain them. Also, how do you get insurance companies to pay if your family doctor won't give you another referral? Can anyone help me out here? Does this sound like I should be seeing an ALS clinic? I am scared ..............

[CindyM]

Hi Quality- interesting screen name you have there! :) Anyway I want to urge you to go to an ALS clinic if you haven't already done so. I am not confident with your GP's treatment. I only say this because my Physical Therapist stopped treating me after he noticed I got weaker with exercise. You might need experts who are experienced in treating MND. And by all means bring your Dad's records if you can get them. Familial ALS is very rare but it can be tested by doing a gene test. Good luck and let us know how it goes. Cindy

[hboyajian]

Dear Quality, I am sorry to hear of the difficulties you are experiencing and understand why you are so concerned about your worsening symptoms. I think you do need to be seen at an ALS clinic to get a second opinion, further diagnostic procedures if necessary, and to check into genetic testing for the familial form of ALS. If your general practitioner will not give you a referral for a second opinion, consider changing to another doctor who will take your family's experience with this seriously. You may know that with ALS it is important not to over-stress the muscles, as they are not able to regenerate when damaged. You need a physical therapist who has experience with motor neuron diseases and will only recommend exercises and activities that are helpful to your condition. I wish you good luck getting the help and support that you need. Holly

[jimercat]

babe,

so your ins. doc won't refer you cuz you are on HMo? is that it? Call the ALS clinic near you and explain your situation to an ALS nurse. Most likely they will exam you with a grant from MDA Assoc. if you can't afford it.

Please reply...

[qualitybabe823]

babe,

so your ins. doc won't refer you cuz you are on HMo? is that it? Call the ALS clinic near you and explain your situation to an ALS nurse. Most likely they will exam you with a grant from MDA Assoc. if you can't afford it.

Please reply...


Thank you for replying, I am a Quality Manager, hence the screen name, Qualitybabe. Our insurance is not an HMO, but its like one. You have to go to in network, I want to go the Mayo Clinic in Rochester MN, (I am located in Wis). THat's where my father went, it took them 4 days of testing after he had been at UW Madison for 2 years. We're not broke by all means, but as you know, the testing required is quite expensive, I don't want to tap into MDA unless I absolutely have to. So would I just call Mayo clinic if I decide to go there without referral and ask for an ALS doctor? My husband, for the longest time, ignored my symptoms, told me I was just getting older, (I'm 45). But now as they worsen, he is starting to realize that, yes, something is seriously wrong. People who have never been through this don't understand what it's like, I was thrilled when I found this website and my heart goes out to each and every one of the people posting on it.

[qualitybabe823]

Hi Quality- interesting screen name you have there! :) Anyway I want to urge you to go to an ALS clinic if you haven't already done so. I am not confident with your GP's treatment. I only say this because my Physical Therapist stopped treating me after he noticed I got weaker with exercise. You might need experts who are experienced in treating MND. And by all means bring your Dad's records if you can get them. Familial ALS is very rare but it can be tested by doing a gene test. Good luck and let us know how it goes. Cindy


My screen name refers to my job, I am a Quality Manager where I work, hence the name. I agree that my GP does not have a clue as to what is going on, that's why I am so upset that he thinks I simply need more excercise. I am and always have been a very active person, not lazy by any sense of the word, so I was very insulted. I think in his own way he is trying to get me focused on FIghting it. If it is ALS, there is no fighting it, just planning for the future....that's important to me, I still have 2 minor children at home, I want to make sure my family is taken care of, if it turns out that it is. One day I feel like, oh well, we'll just live with it, and the next day I am scared to even think what the future holds. IT's been a rough year for me, when this all started, my mother was by my side, but she has since passed on from cancer, last August. And now, for the first time, I have to deal with this without her. She's the only other person who understands all of it, as she and I took care of my father til he passed.

[liz]

Advice routinely given to folks in your situation is to make any changes you need to make in your life insurance situation ASAP before you get diagnosed. Given your family history, I can see why you are concerned. Hopefully you do not have ALS. Good luck.

Liz

[captwilly]

You need to know that when I was first seen, my GP suggestewd physical therapy. After dx with ALS the Doc said that exercise was counter productive cause I dont have the ability to build muscle, all I can do is conserve that which I still have. Now I routinely use passive exercise to keep my shoulders from freezing up. By all means go somewhere that you can get definitive dx so you will know for sure. For your sake and the sake of your family I pray that you dont have ALS: but if the news is bad, remember two things: YOU ARE NOT ALONE....You can have the disease, but it cant have you unless you allow it to...wm

[qualitybabe823]

You need to know that when I was first seen, my GP suggestewd physical therapy. After dx with ALS the Doc said that exercise was counter productive cause I dont have the ability to build muscle, all I can do is conserve that which I still have. Now I routinely use passive exercise to keep my shoulders from freezing up. By all means go somewhere that you can get definitive dx so you will know for sure. For your sake and the sake of your family I pray that you dont have ALS: but if the news is bad, remember two things: YOU ARE NOT ALONE....You can have the disease, but it cant have you unless you allow it to...wm

That's my fear, with all of this sudden excercising he has me doing, I feel more and more fatigue and it's harder to walk, like i have to think about my steps or I will stumble. I can't just simply stop, what do I tell him? I am looking for another doctor, what do I say to the next one if he asks about the first doctor and why did I switch?
I am ready to accept whatever they tell me, but I want to make sure that I am not making matters worse by doing all of this working out. The physical therapist gave me 4 passive excercises to do, stretching excercises. ALl of the muscles in my ankles and thighs are very tight and rigid, the stretching should help with that. Do you know that the last time the doctor tried to give me a shot in my right arm, the needle would not go in, and I wasn't tensing up at all my muscle was just that tight. Have you ever heard of that? He had to go to the other arm. At any rate, thank you for your kind wo rds and you are right, if I do have the disease, I won't go down without a fight!

[qualitybabe823]

UPDATE: I am scheduled for another EMG this coming Wed to see if I have deteriated any more since my last one. I now have numbness on the top of my left foot and my right arm is getting weaker every week. I have hope that they will figure this out, given my family history, I am requesting the genetic testing.....Pray for me, please, it's looking pretty bleak at this point.

[janf]

I Pray For You Now . We Are Here! You Are Not Alone Call On The Father To Give You Peace . Waiting To Help. God Bless. Jan

[CindyM]

Hi qualitybabe- I hope all goes well with the tests next week! Cindy

[qualitybabe823]

I had my EMG, they tested both arms, hands, legs and feet. The EMG was normal. Dr said that he does not believe it is ALS, but rather, a different inherited disorder. He believes, my father who was dx with ALS, actually may have started out with this. He called it Autonomal Nerve Disorder, Small Fiber Neurapathy. He told me it is an inherited disorder, but that it can be manageable with treatment, without treatment, it can be fatal. He said that it was good that I came back and kept up with wanting the to know what it is. Basically the nerves that I don't control, but rather are automatically controlled are overactive, this is causing damage to them, pain, numbness and weakness. THere is also a rather extensive list of other health problems that can stem from this disorder. We talked about my father's medical history as well as his mother's medical history. All 3 of us had the same issues. The Dr believes that in the beginning, my father did not have ALS but that the onset of ALS came well after they started testing. I asked him if the two are linked in any way, he said there is no proof that the two have anything to do with each other. He is starting me on Topamax , I start with 50mg and build over 4 weeks to a dose of 200mg a day. THis will help to suppress my nerves some and allow them to heal, the autosomal nervous system can regenerate as long as the cells did not die, so therefore, I have a real chance of full recovery if we caught it in time. HE said the boughts of stress can bring on severe flareups. I have had one of the roughest years of my life, I took care of my mother at home to allow her to die in her home. She had brain tumors, was a very tough job, extremely emotional. THis would be enough to cause a flare up. He feels I"ve had it since my early 40's, I am now 45, so I've had it awhile. Hopefully we've caught it in time.

It's very important, for anyone out there with similar symptoms, my Dr said that these disorders are as hard to diagnose as ALS and are often mistaken for other ailments and diseases. People can go through life with having un needed surgeries and procedures. He advised me that from now on, I be very careful and if I see any other doctor, make sure they are aware and understand what is involved with this disorder.

So, there is hope, but I cannot help to question, is there a link between this and ALS? My father started with the same symptoms that I have, and yet ended with ALS.
I wonder if he was misdiagnosed and had this the whole time, but because of the diagnosis of ALS, it was not treated properly and caused his death? Lots of questions.......For now, I am happy that I am not dying, that there are treatments we can try to improve and sustain my life and I am hanging on to those thoughts. Positive outlook is imperative, no matter what it is.

I will keep you all updated on any changes in my health. I have to go in for some more tests on the 28th, autonomal testing. These tests should solidify the diagnosis, Doc said he will no for sure once they are completed. I will let you know.

Thank you so much for the support, I will keep praying for everyone.

[Jamiet]

This is good news. I am glad to hear this, i hope your medicine works!!!

How do they test for this? What did he look for, it would be interesting to know.

Is it the uncontrollable nerves?

rgds,

Jamie

[Midnight]

Hi QA Babe,
i read your info & found it interesting that i am having many neurological undisgnosed symptoms and i am on Topamax & one os the neurological's solutions is to take me off of Topamaz to make sure it is not causing all this, so I find it interesting that they are putting you on the same miligrams that they are taking me off of. I pray it works for you but be careful because weight loss is a serious side affect...and quickly...so eat accordingly...make yourself to keep strong and please post soon. I wish you and your family luck. I know how scary it can be.

[qualitybabe823]

Ok, they will be doing a number of tests on me, the dr explained that the results of these tests will solidify his dx. It is the Uncontrollable nerves they are testing with these.

The first test is called the Quantitative Sudomotor Axon Relfex Test (QSART). A They are testing the nerves that control the sweat glands, they are looking for one of two things, either you won't sweat or will sweat profusely. In my case he expects me to sweat profusely since he feels my nerves are overactive vs underactive.

He also mentioned possible autoimmunde disorders for me. This is scary as my father also was tested for this, I am not totally convinced as of yet that they know what it is, although the doctor feels quite sure of his dx. He has not come out and said it, but, he has alluded to the idea that maybe my father was misdiagnosed. I am getting all of my father's records, it will take a few weeks, but instead of having them sent to the dr, I am getting them myself, I want to look them over and compare BEFORE he sees them. I need to know what it is, not only for myself but for my children's future. He truly believes that what I have is Hereditary, it's the only way. So, is it inherited ALS or Autonomal Nerve Disorder? If you look up Autonomal Nerve Disorder, you will see it is just as hard to diagnose as ALS, they must rule everything else out, so the fact that he is going to test for that specifically, tells me that he is hoping it comes up positive, if not, then the inevitable must be? SO confusing, and scary. I am trying to stay as positive as possible, I am inquisitive in nature so for now it's kind of like being a medical sleuth solving a medical mystery and that is how I intend to go about it until I am told otherwise.

[qualitybabe823]

Hi QA Babe,
i read your info & found it interesting that i am having many neurological undisgnosed symptoms and i am on Topamax & one os the neurological's solutions is to take me off of Topamaz to make sure it is not causing all this, so I find it interesting that they are putting you on the same miligrams that they are taking me off of. I pray it works for you but be careful because weight loss is a serious side affect...and quickly...so eat accordingly...make yourself to keep strong and please post soon. I wish you and your family luck. I know how scary it can be.

How long have you been on Topamax, what are your symptoms? As far as weight loss, it should be no real problem for a while, I have plenty of weight to loose right now. My husband since he's heard the dr dx, is so happy, I have not told him that I am not convinced at this point, considering I was through it all with my dad, I know it's just not that simple, and it is pointing at something in heredity, just too much of a coincidence in my books, so for now I put on a smile and act like life is great, but inside, still scared to death. Please let me know, what kinds of symptoms were you having, what side affects besides weight loss did you have?

[qualitybabe823]

do you have fasics? and atrophy? and stiffness, and what did they say tipped them off for this possible dx. I think als starts a lot of different places, and can possibly be headed off at the pass, I am hoping you are one of them.. Keep us posted, this sounds so encouraging for you...

Yes, I have all of the above symptoms, in my legs and especially my right arm. You see the most atrophy in my feet, believe it or not, I have gone down 2 shoe sizes, due to my arches getting higher, the muscles on the tops of my feet have atrophied tremedously, they are rounded up, if you can imagine. The muscles in my calves, thighs, forearms and upper arms are hard and stiff. They tried an injection in my right arm and went through 3 needle sizes before they could penetrate the muscle. Isn't that crazy? The thing that my doctor stated tipped him off was the numbness I am starting to get in my left foot, I cannot feel the big toe and the two right next to it, but it's only on the top of the foot and between the toes, no feeling whatsoever, you could slice them open and I would not know. But the bottom of my foot is pins and needles. My father had the same numbness and pins and needles feeling in his forehead and face........dx with Bulbar ALS.

[Midnight]

Hi Quality,
Sorry it took so long to respond. Weekends are always chaos in my home.
I have been on Topamax since 05 for migraines. My symptoms are faciculations in the deeper muscles, muscle cramps, weight loss because it is hard to eat/chew/swallow, speech difficulty...so hopefully something viral or treatable. One never knows.

Topamax makes you a little foggy until you are adjusted and makes soda taste horrible (no problem for me because I hate soda) & kills your appetite. It has been a Godsend for me. I hope it will be for you as well.

[qualitybabe823]

Well, I know this may sound crazy, but I've only been on Topamax a few days but I feel like I am having affects already, tingling in my arms and hands, the left toes that had no feeling, now itch at times and the big toe will ache, not sure if it's related. I am getting headaches, is this normal? I've been taking Tylenol and it takes care of the headaches. I just hope it helps, I can't keep on the same trend I've been on.

[pmbenb83]

Hi Quality ~ You may want to contact your pharmacist and ask if these feelings are normal for this medication. My husband found out the hard way to ask sooner rather than later. He had a reaction to Tegretol and wound up in the hospital. His headache from the medication was a toxic headache and he took Tylenol, which he wasn't supposed to take with Tegretol... too much acetaminophen, which may have caused a liver problem. Hopefully in your case it isn't a problem, but it's always best to ask the pharmacist and tell your doctor. Good luck. Take care. Pam B in Va

[Midnight]

Topamax...I definitely had the tingley hands & feet...numbness feeling, but it went away.


This is the side effect website.
http://www.topamax.com/topamax/how-topamax-may-help--what-to-expect.html But.....I'd definitely check with your doctor to be on the safe side. It is hard because sometimes you don't know what is caused by illness and what is caused by medication and what is caused by multiple medications! I did have a friend on Topamax whose doctor put her on a dose rather quickly and she had more side effects than I did, so perhaps your doctor is putting you on a higher dose for medical reasons and your body is not doing the "adjustment" thing as smoothly???

Either way, for peace of mind and safety, just throw a call to your doctor. Feel better ;)