ALS diagnosis being questioned by specialist--can anyone suggest why?

[weezie419]

Hi Guys,

First off, thanks for reading. I started a thread on the general discussion forum, but I thought this was probably the better place to ask my questions.

Basically, my mom was diagnosed with ALS last month, but when she saw a specialist 2 weeks ago, he told her she may not have ALS. I'm trying to figure out why he thinks this. He's redoing her EMG on April 19th, but she won't see him for a followup until May 2nd (ironically because there's a big conference somewhere at the end of April). We've already been living in limbo for the last few weeks, and another month is going to drive me a little bonkers.

Here's her basic progression of symptoms:

For the past year, my mother has be experiencing increasing weakness in her arms, and she was having trouble lifting/holding things. In December, she told me that she had to prop her arms over her head to wash her hair (she had limited range of movement and couldn't lift her arms over her head). By the end of February, she was having trouble getting dressed in the morning etc--at my 25th birthday dinner she couldn't lift a spoon of soup to her mouth. A week later she couldn't hold a cup of punch.

She went to her primary care physician, who referred her to a neurologist for testing. They did an MRI of her neck, an EMG, and some bloodwork. After these tests, they told her she had ALS. We asked the neuro if he was sure, and he said he was 99% certain.

About 2 weeks ago, my mom went to Syracuse, NY to see their specialist and find out if she qualified for any drug trials that were running. After the initial exam, by the attendings and the specialist, the specialist told my mother he wasn't convinced she had ALS.

So, I'm wondering what he found in the exam that would make him think this, and I was hoping you guys could help. Here's what my mom said happened (I wasn't there, and she doesn't want to read this forum and skew her perceptions before her next exam):

1. Her reflexes were totally absent at first, but when the doctor told her to link her hands (interlocking C shapes) and pull out, as then tested them, her reflexes magically appeared.

2. He had her walk on her tip toes, and then on her heels, and her left foot dropped when she tried to walk on her heels.

3. He said she has no symptoms above the neck.

4. One arm is weaker than the other.

5. My mother told the attendings that she has more trouble with her arms and her hands. Her hands are giving her trouble dexterity wise, but it's her ability to lift and carry things that's really becoming a problem.

6. She showed me her arms last night and her muscles are definitely degrading (I don't know what the technical term would be). Her biceps are still a little visible, but her triceps are all flab (think bingo arms to the extreme). Her forearms still look normal.

Does anyone have any insight here? I know in the stickies it said not to look for medical advice here, but I was hoping you guys might have some firsthand experience.

I don't think the specialist would have said anything to my mom if he wasn't sure, but at the same time, he doesn't have the test results that the first neuro did when he diagnosed her.

Again, thanks for reading (sorry it's so long!), and for your advice.

 

[Ms. Pie]

Is her Specialist a specialist in ALS? If so, it would be good to get a second opinion just to make sure in my opinion.

 

[weezie419]

The Doctor she saw in Syracuse was a specialist in ALS--at least he's specialized enough to be assessing candidates for drug trials. The first Dr. who diagnosed her was a normal neurologist.

 

[trfogey]

Off the top of my head, I'd say he's not seeing any upper motor neuron symptoms. The upper motor neurons are located in the brain and present their own set of symptoms -- ironically, the opposite of lower motor neuron (located in the spinal cord) symptoms -- and the diagnostic criteria for ALS requires both UMN and LMN symptoms to be observed in three of the four regions of the spinal cord (bulbar, cervical, thoracic, and lumbar-sacral.

Everything you described about his examination of your mother appeared to describe LMN symptoms -- reduced reflexes, reduced muscle tone (flabby/flaccid), weakness, and atrophy/wasting. UMN symptoms are: pathologically brisk reflexes, stiffness and spasticity in the muscles, and weakness in the muscles without atrophy and loss of muscle tone.

Your mother's original neuro gave you his best opinion on what he thinks your mother's condition will eventually become. The neuromuscular specialist will do much more testing over a longer period of time in the hope that your mother has one of the conditions that present similarly to ALS.

Hope this helps and the best of luck to you, your mother, and the rest of your family.

 

[notme]

The fact that her forearms still look the same is a good thing--normally, distal regions like the hands and forearms would go first. Is it possible that because of the weakness that she's simply using the upper muscles less?

The new doctor should be able to give the EMG results while she's there--if he's the one doing it.

There are a lot of diseases that mimic ALS symptoms--I pray they will find a different answer for her! Have they done an MRI already? A mild stroke could be causing the weakness if it's limited to one side.

Try to think positive while you wait. And I know how hard that is.

 

[momap53]

Weezie, gather copies of all the tests, labs, etc. that your mom has had done and take them along when seeing a new physician. If there are MRIS, or other scans have the facility where they were done make discs to take along so that all information is readily available for the new doc to review. I went to Mayo for my second opinion and they asked that these materials be hand carried to the appointment. They did some of their own testing as well and I added copies of their testing to the packet as well. When I then decided to be followed in an ALS Clinic, the physician there wanted all these materials as well so that he could best determine that he would be treating me appropriately. Good luck.

 

[tammyg]

Has she been tested for Lymes, two tests. One for recent exposure and one for past exposure. Alot of the systoms are alike. I would follow the path that trfogey and momap53 gave you along with the others. They know.

 

[Toto's Dorothy]

Weezie,

If you could get a copy of her first EMG and you reach 10 posts (I believe), you can PM them to Wright. Wright is our in-house EMG specialist. He is a professor at a teaching hospital and our GO TO GUY. And when your Mom has the other one next week ask for a copy ASAP.

My prayers are with you and your mom as you embark on this journey,

 

[TedH5]

Weezie, I would be happy that the specialists wants to take a second look. Trfogey did a good job of outlining the potential concerns so I am not going to reiterate them. Also not sure what the original EMG showed but most Dr's especially if they do not know the original Dr. very well want to perform their own EMG. Keep in mind the original Dr. said they were 99% sure, the door was left open. I know uncertainty is frustrating but my advice is be patient you could end up with some good news.

 

[weezie419]

Thank you so much for your responses everyone--I really appreciate it. We're trying to think positive thoughts and be patient. The specialist had all of her previous lab and test results, but the neurologist told my mom they'd probably re-do some, if not all of them. I'm hoping that means the specialist is more informed, but I don't know.

I'm not sure if they tested my mother for lyme's disease. I know they did a lot of blood tests, so I would think that they did.

I'm going to the appointment next week, and I'll report back when we get the results.

 

[momap53]

Good luck next week. I'm glad you'll be able to go along with your Mom.

 

[weezie419]

Can anyone tell me what I should "look for" during the EMG?

 

[notme]

YOU shouldn't look for anything--but you and your mom can ask the doctor what he SEES when he's done. My neurologist does her own EMGs and gives the results right then. hopefully hers will, too.

Ask questions. See what he thinks it is if it's not ALS--and why he doesn't think it's ALS. Look at the ALSA website and get a list of questions for the doc.

 

[weezie419]

Hey guys,

We went to Syracuse for the tests, and it looks like my mom has ALS.

Sorry for the delayed update-- the experience we had with the Dr was very unprofessional, and I've needed some time to kind of relax.

*********START RANT**********
After they finished my mom's test the Dr came in and just started talking about the ALS clinics they run and how my mom will be seeing her when she goes to them. My mom was like, "wait a minute. Are you saying I have ALS?" and the Doctor said, "Oh I thought you had the diagnosis and this test was just a formality." I was (and am) so infuriated with the insensitivity with which this woman treated my mother. She didn't even look at my mom's chart or talk to her colleagues before busting in there like gangbusters and shattering my mom's (and my family's) hopes. She also never apologized. It was almost worse than finding out the first time, and I think a big part of it was due to the woman's horrible bedside manner.

My mother had a follow-up appointment on May 2nd with the Doctor who heads the research team there, but she canceled after finding out she would be meeting with this other doctor again. I can't blame her.
********END RANT**********

So now we're just trying to figure out how to go on from here. My mom has no interest in the riluzole since she had an adverse reaction to it (the doctor in Syracuse said she had an adverse reaction because "she took it exactly as directed." You'd think they edit those instructions then wouldn't you?). Does anyone else have any suggestions for alternative treatments or anything that helps?

 

[LizT]

Sure wish there were a list of treatments or somethings that will help.
unfortunately that list doesnt exist with this disease.

I'm sorry the doctor was so horrible. Inexcusable!