Waiting for 2nd opinion... Scared... Please advise.

[Amanda81]

I'm new to forums... I've read, but never posted. Here's my story...

My mother started having slurred speech in February 2012. She saw her primary care who thought it might be her enlarged thyroid causing the problem. She was asked if she could live with it and my mom decided she could. Probably around July/August her symptoms were worse... speech was worse, she had started choking easily, and also developed trouble breathing and having shortness of breath. She went back to her PCP who sent her to an ENT to discuss removing her thyroid.

The first ENT was a joke. The second ENT was more thorough and referred her to a neurologist because she stated her symptoms worsened throughout the day (which meant muscle weakness).

A couple weeks later we met with the neurologist which diagnosed her with myasthenia gravis and prescribed her medication. After two weeks, the medicine wasn't working and my mom said she felt worse. We went back to the neurologist and he ordered more tests... he was considering MS or ALS.

She has had an MRI of neck and brain, blood work, and EMG. The MRI was ok, we're waiting on blood work results, but the EMG suggested ALS. She has been referred to a specialist at Washington University in St. Louis. The paperwork has been faxed and we are waiting to hear about our appointment time/date.

I have questions!

1) I'm worried about a misdiagnosis... what questions do I need to ask the St. Louis doctor. Does anyone think these symptoms could be anything else? Any knowledge or ANYTHING you can give me would be appreciated.

Note: She has never complained of any weakness. She says she is weak all over, but she thinks it is from being so tired b/c it is difficult for her to breath. Is there anything I can watch for to examine weakness that she might not be picking up on?

2) If you were referred to a specialist in this fashion, especially if you were referred to Washington University, what can we expect from this visit and afterwards?

Thank you for ANY information anyone can give me. We are all so scared and it is even worse when you are going into something that you have NO knowledge of.

 

[vickim]

I see a neurologist at washington university and I think your mom is in good hands. It took 5 years and 3 neuros to find out what was wrong. My Dr. at washington university is wonderful. After an emg he suggested muscle biopsy and 8 weeks later I had a diagnosis. None of the other dr.s could figure it out, thankfully the second neuro said she didn;t know what was wrong and said she would send me to st louis. Thank god she did!

 

[wright]

Hello Amanda

I'm very sorry that your mom is going through such an ordeal and that you had to find this forum.

I'll start by saying that Wash U in St. Louis is as good as it gets; you will be in very good hands. It doesn't really sound like a diagnosis has been given yet, but rather, it sounds like you were referred to the specialists at Wash U because your current neuro wasn't sure. ALS might be on the table but it doesn't mean that is the final diagnosis. As far as getting a misdiagnosis: given the institution you are going to visit, the chances of that are not high. Having said that . . . a second or third opinion is your right and given the dire nature of some conditions, the diagnosing physician typically welcomes a second or third opinion.

I'm not sure exactly what kind of questions you can specifically ask, because I really don't know too much about your mom's history. What you want to do is simply tell her story in as much detail as possible. Write it out methodically before you get there so you don't forget anything. Then pay very close attention to what is said during her evaluation and don't be afraid to ask questions during that evaluation should you have any (e.g. "why are you doing that" . . . "what does it mean when her legs do that" . . . "what do the results of that test mean" . . . etc., etc.).

One last thing: her story could be consistent with ALS . . . however . . . her breathing problems starting at roughly the same time as her speech problems would be a bit atypical for ALS. ALS typically begins either in the limbs or the bulbar region (bulbar symptoms are speech and/or swallowing problems) or the thoracic region (symptoms would more than likely deal with breathing issues) . . . not two of those at the same time as is happening with your mother. Of course I don't know your mom's history and how her symptoms presented, so I am by no means positive that she can't have ALS. However, there is certainly hope that she has something else happening.

I wish you the best and certainly write to us when you feel the need.

 

[ottawa girl]

Sorry about your Mom- but happy she's getting a second opinion. I'm not from the USA so can't comment on St. Louis facility, but if you can get her EMG report, you can contact Wright- our forum EMG specialist. You may post a message on his profile page. He is really knowledgeable and especially great putting things in layman's terms.

You've come to the best place I know of to get the most reliable information and support.

 

[ottawa girl]

Oh- I now see Wright is on the ball!

 

[vickim]

I replied to your message but I don't know where it went. I go to washington university barnes jewish hospital in st louis and the neuro i see there is wonderful he got me a diagnosis in bout 3 months compared to the 2 other neuros I saw in my 5 year search. She will be in good hands. He did a exam and then suggested an emg which showed problems and wanted to do a muscle biopspy. I was just at my 6 month check 2 weeks ago.

 

[Amanda81]

Wright - Is it true that if I get the results from the EMG that you might be able to provide more insight?

Also, her current neurologist termed our appointment in STL as a "2nd opinion." So I do believe that he feels confident in his diagnosis. I might ask about a 3rd opinion in STL just to see what they say... I guess it could never hurt.

I don't know if I was clear about the breathing problems... it was her slurred speech that started first. For probably 6 months, that was her only symptom. Then it worsened and she started choking easily. So this would be what you called the bulbar area. I think the breathing came in after that, and it's mostly when she lies down flat. This could be attributed to her enlarged thyroid though. But she still hasn't complained of any weakness in her limbs (although she has fallen a few times in the past 1-2 years). Her neurologist did say something about her reflexes, but I don't remember the term he used. Also, her chin quivers sometimes. I see it happen, but I don't know if she notices. The neurologist also tapped her chin to test her reflex and commented, but again, I don't remember what he said. I feel like I need to take a recorder in with me! Last, he asked her to move her tongue back and forth as fast as she could. She was very slow and it went all around, not back and forth. If anyone knows what any of these things mean, I would love to know. It's difficult to look some things up on the internet because it's hard to explain to a search engine.

Vicki, what doctor or doctors do you see at Wash U?

Thank you, everyone, for your support so far. I'm a very strong person, but I'm still in shock and trying to process everything. I already feel reassured that we will be in good hands at Wash U and that I already have a few people to lean on here.

 

[Amanda81]

Brisk! That was the word he used when describing her reflexes.

One last thing... her MRI did show a disc herniation of the C6 area. We saw a neuro surgeon and he said he LOVES to do surgery on that area, but with her not complaining of pain or numbness in either upper extremety, he has no good reason to.

 

[vickim]

Dr. Brian Sommerville. He specializes in neuro muscular disease. He is very easy to talk to and explains every thing and will answer any question not matter how dumb you think it is. He has been a god send to me. Good luck.

 

[wright]

Yes, Amanda, I would be more than happy to look at the results of her EMG.

There is a possibility (as you state) that her breathing problems have nothing to do with her speech problems. There is also the possibility that her thyroid problems could somehow have something to do with her bulbar issues. There is a lot of uncertainty at the moment and I know that must be hard on everyone involved. Again, is ALS a part of the differential? Yes it is unfortunately but it is not a foregone conclusion.

Brisk reflexes can be abnormal but can also be normal if they are symmetrical . . . meaning that both sides of the body in the same area are equally brisk. This is not always the case but as I said, can be. The reflex your neuro was examining at her chin was more than likely the "jaw jerk" reflex. If it is present, it can be an indication of something pathological.

The C6 region cannot explain her bulbar region issues but if her spine is compressed at that area, it could cause brisk reflexes in all of her limbs. Furthermore, if solely the spine is compressed and the spinal nerves are not (this can happen if the herniation is centrally located and not to one side or the other), then she wouldn't have any numbness or pain; compression of solely the spinal cord would be painless but would cause what is called "upper motor neuron" problems and that would include brisk reflexes.

Keep leaning on us. We're here for you.

 

[vickim]

My last post went to moderation so I'll try again. My dr is Brian Sommerville. He specializes in neuromuscular diseases.It only took him around 4 months to give me a diagnosis and some of that time was waiting for test results. He is very good at explaining everthing in terms that is easy to understand.

 

[Amanda81]

I will work on getting the results tomorrow. Not sure how long that takes.

The MRI of her neck also showed her enlarged thyroid (they called it a goiter, but I hate that word... haha). Her ENT was consulted with the results and he still said he would not remove it for 3 reasons... 1) She said her symptoms worsened as the day went on, suggesting muscle/nerve problems. 2) Her thyroid hasn't grown since the ultrasound in 2007, so symptoms starting in 2012 are not likely to be related. And 3) If he intubated to take out the thyroid, and it WAS a muscle weakness problem, we run the risk of being unable to extubate. So he does not believe her thyroid is the cause of any of her issues and, after questioning him recently, I see his logic.

I do not know if the neurologist said anything about her reflexes being symmetrical or not.

I don't understand, exactly, what you were trying to explain about the C6 compression, but I think I understand a little. However, would results of the EMG trump what you were saying? Or no?

No need to respond immediately unless you just want to. I will get the EMG results and then we can try to go from there.

Thanks again, truly.

 

[HelenL]

Amanda, though I can 't really add to the good advice here, I just wanted to let you know that we know what you're going through... good luck and keep us posted. (I also have had thyroid issues for years)

 

[wright]

Hello again Amanda

The spinal cord runs through the vertebral column (thru the vertebral canal). The vertebral column is made-up of individual bones called vertebra. Each vertebra has a hole roughly in its center . . . and so when you stack the vetebrae (vertebrae is plural for vertebra) one on top of another, it makes a canal. It is this vertebral canal that the spinal cord runs through.

The spinal cord has spinal nerves projecting from it (think of the spinal cord as the trunk of your body and your arms and legs as the spinal nerves). Spinal nerves are made-up of nerves that project out to the muscles (these are the motor nerves that control the muscles) and spinal nerves are also made-up of nerves that come from all areas of the body (these are the sensory nerves), which are responsible for all of the sensations that we feel, such as heat, cold, pain, touch, etc.

The vertebrae have disks in-between them that allow flexibility and movement. Under normal conditions those disks are solely between each vertebra and do not touch the spinal cord or spinal nerves in any way. When the disks bulge or herniate (rupture), they protrude from their normal position and start to invade the vertebral canal. If the bulge is to one side or another, then it could pinch the spinal nerves. When the spinal nerves are pinched, that is when pain, numbness, etc. can occur along with muscle weakness. If the bulge happens centrally, then only the the spinal cord is pinched (the nerves are not pinched, so no sensory symptoms). When the spinal cord is pinched, that is when different types of signs occur, which I referred to as "upper motor neuron" signs (e.g. brisk reflexes in any area below where the spinal cord is pinched).

Bottom line: your mom could have centrally bulging disks that could be causing her brisk reflexes and could also cause coordination problems in her arms and legs. Again, this is just a possibility and I am in no way saying it is what is happening . . . but . . . it's worth exploring in my opinion.

I forgot to answer your question about the EMG: yes, the EMG will be able to tell whether or not her problems are due to pinched nerves, compressed spinal cord, motor neuron dysfunction, etc. It is a very powerful tool and it will go a long way in determining what is happening with your mom.

 

[Amanda81]

Vicki - Thank you for giving me the name of your doctor. I am anxious to find out who we will be seeing. You said the diagnosis took 4 months... was this Dr a 2nd opinion? Or was this from the beginning? We have already been diagnosed in Springfield, IL by a neurologist and we will be going to Wash U for the 2nd opinion. I'm hoping it takes less than 4 months to get a diagnosis as we've already been doing tests and such for approx 3 months. Thanks!

Helen - Thank you for the support. Do you have an enlarged thyroid? My mom has Hashimoto's Disease. Were any of your initial symptoms thought to be related to your thyroid problems?

Wright - I will have to respond to yours later. I'm at work and not really supposed to be on the internet (hehe). I need to get a signature from my mom and then her records will be released to me and I can post the results of her EMG. Can I ask what certifications/degrees you might have? I don't mean to be rude, I'm not doubting your expertise, I just like to know who is giving me "medical advice" and what makes you qualified to do so. And please also know that I'm not the type to say, "But he said!...." I realize you are just here to help and I appreciate it greatly. I would never hold you to anything you say. Thanks again!