How to be certain it is ALS

[Lens]

My mother was diagnosed with ALS a few months ago and there are aspects of both the disease and the diagnosis that she is finding very challenging to accept. I am sure this is "normal" but seeing as I can't even begin to pretend like I know how she is feeling, I am hoping that maybe someone who can actually relate can give some insight.

It seems like at random, she will go from accepting that she has ALS to believing there is a chance they are wrong and it is something else. I can't help but hope its something else, of course, but I also don't want to encourage false hope.

On the ALSA.org site it states...

A comprehensive diagnostic workup includes most, if not all, of the following procedures:
•electrodiagnostic tests including electomyography (EMG) and nerve conduction velocity (NCV)
•blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24-hour urine collection for heavy metals
•spinal tap
•x-rays, including magnetic resonance imaging (MRI)
•myelogram of cervical spine
•muscle and/or nerve biopsy
•thorough neurological examination

She's had a neurological examination and a second opinion.
In May 2013 she had her first EMG, which came back normal, however when it was repeated six months later it came back abnormal.
She had the NCV test done.
MRI was done and came back not showing anything.
Myelogram of cervical spine was done (This is a CAT scan, right?)
She did have blood taken, however she admits she does not know what it was being tested for.

They did not do a urine test, no muscle or nerve biopsy has been done and no spinal tap has been done.

So at least 5 out of the 10 were done, possibly 6, but as I said she's unsure about what was the blood work was tested for.

A few days ago, she also went to a naturopathic doctor. They took blood and sent it out for testing in the US (she is in Canada) for lyme, even though she does not believe that lyme has anything to do with ALS. I got the impression that she was more hoping the naturopath could help with her colitis or provide her with natural products that may help with some symptoms and that she may have ultimately gotten pressured into the blood test.

I guess what I am really wondering is how normal is it to be diagnosed without having a urine study, biopsy or spinal tap?

She is struggling so much with her insurance company and their refusal to cover anything and pushing her to go back to work. I don't want to be encouraging her to try and get this other testing done if it is just redundant. Do these tests test for diseases that the other ones would not have covered?

I appreciate anyone taking the time to give some input...Good bad or otherwise. I'm going to forward everything over to her, she's not really tech savvy but this way she can read the feelings, thoughts and experiences of people who have been there.

 

[Atsugi]

You were wise to include those details with your question. Thanks.

I’m sorry you’re dealing with this disease. Or are you really? You say she was diagnosed, but then you say you have hope it’s something else. You don’t sound convinced that mom got a competent diagnosis. I hope you’re not relying upon a naturopath for such a serious diagnosis! It’s possible the insurance is not paying because they’re not convinced, either. The EMG should be conducted and interpreted by a board certified Neurologist.

To answer your question directly: If the EMG shows ALS, then a spinal tap seems unneeded. You’re right to notice that the other tests are, in fact, to check for other diseases that could mimic the ALS symptoms. Her Internal Medicine doctor would know which tests and which specialties need to be involved. Rely on an MD.

I had our neurologist write a letter confirming the diagnosis, so I could use the letter as needed with the employer, insurance, Medicare and Social Security office.

How you support her depends upon the diagnosis. If she does, in fact, have ALS, then my advice is too complex to place in a single post. At the beginning, consider the following:
- Depression, mood stability and emotional swings. An MD can help with these.
- Spiritual or religious support. If she is not a member of a congregation, consider asking a chaplain to visit.
- Legal, financial and insurance. See an attorney who specializes in elder affairs.

For many people, the greatest emotional difficulty with ALS is the lack of choice. As it progresses, you need help doing simple tasks, you lose independence, and you lose your freedom of choice. You can’t even choose to move across the room or scratch an itch.

For others, the sheer magnitude of a terminal diagnosis is unbelievable. They can’t accept that there is no cure. In this case, you’ll be challenged to show patience and understanding, going with the flow of a person who goes one way one day, the other way the next day. Don’t be too hard on her, for it is, indeed, her life and her choice how she wants to manage herself.

 

[Dusty7]

I am a bit uncertain on some aspects. Who did the clean EMG? When was the second opinion sought? Who did the second EMG? Why was a second EMG sought?

As to what is necessary... a thorough neurological examination is absolutely necessary to look for UMN and LMN signs; one or more EMGs are necessary to look for widespread acute and chronic denervation; blood tests are necessary to rule out Lyme disease, cancers, myopathies, AIDS, HTLV, MMN and many other diseases. MRIs are usually done to rule out the causes of radiculopathies (pinched spinal nerves). Spinal tap and muscle and nerve biopsies are generally not done unless the neuro sees something he needs to look at more closely. Your mother should be able to request copies of her blood tests and ask her neuro or PCP for an explanation of why the test was done and what the results were. With an ALS diagnosis, the results of the blood tests are generally clean.

If she has been diagnosed by a neuro as having ALS and she doesn't accept it, it may be because she does not have faith in him. The answer to that is a second (or third) opinion. Or else she can sit down with the neuro and he can explain, slowly and in layman terms, why he came up with this diagnosis. Yes, sometimes, neuros do a clinical exam, look at an EMG and pronounce a diagnosis with no explanation or ensuring the patient understands.

Or els she is in denial and is not going to accept the diagnosis until it puts her in a wheelchair. The treatments for these scenarios are completely different and you'll have to talk to her about why she refuses to accept the diagnosis. Feel free to come back with more questions and answer to my questions above.

 

[Barbie]

It is natural to be skeptical of such a serious diagnosis, and normal to also not believe it at times. (sometimes I still don't believe it and it has been 7 years)

My husband was first diagnosed with just a 15 min. physical exam, and then a NVC and EMG to confirm it the next week. was not an ALS expert. husband refused to believe it, talked himself into Lyme and would not go back to the neuro or get a second opinion. decided to go to a naturopath who said he could cure my husband, and also a Lyme expert who also said he could cure him.

after a year of denial, the progression could not be denied and we went to Mayo for a 2nd opinion. that was given with just a physical exam again and a review of the EMG and NCV.

I would suggest you get her an appointment at an ALS clinic in her area for a 3rd opinion and go with her. If they confirm the ALS, they will be able to really help thru her progression. if they have doubts they will tell you. with a confirmed diagnosis, she can get Medicare fast tracked and disability. You will need a letter from the neuro stating that she has ALS, and there will be no arguments from the insurance or medicare.

 

[FSHolbrook]

I am so sorry that you find yourself on this forum, I think that in many cases spinal taps, urine studies and muscle biopsy are no done. I checked the Mayo Clinic after I was diagnosed and the included every test that I went through plus muscle biopsy. I just had 3 MRIs a whole lot of blood tests and an EMG.

Rick

 

[MaxEidswick]

>My mother was diagnosed with ALS a few months ago and there are aspects of both the disease and the diagnosis that she is finding very challenging to accept. I am sure this is "normal" but seeing as I can't even begin to pretend like I know how she is feeling

ALS is usually a diagnosis of elimination. My clinic told me the spinal tap was for both for research and to find/eliminate other problems (not sure which ones).

>She is struggling so much with her insurance company and their refusal to cover anything

That can be either a real problem or just a pita. If you can get a referral from your neuro to the clinic in Phoenix, it would be a good move.

ALSA:

The ALS Clinic at Phoenix Neurological Associates
5090 N 40th St., Suite 250
Phoenix, AZ 85018
Medical Director - Todd Levine, MD and David Saperstein, MD
Phone 1: (602) 258-3354
Phone 2: (602) 258-3368

Good luck!

Max

 

[lgelb]

Rick is right -- seldom are urinalysis, myelogram, muscle bx, tap needed, though sometimes part of research protocols. The ALSA copy is misleading, certainly. I would not doubt your mom's ALS on that basis.

Sounds like the insurance problem is w/ the employer's disability carrier. An ALS diagnosis doesn't override their criteria for STD or LTD coverage. She may want to consult a specialist attorney if she truly is unable to fulfill her responsibilities as of now. But as mentioned, she can begin the Medicare process.

Lyme testing would normally be part of the labs drawn if she has been outdoors in an endemic region. If she is seeing a naturopath that is wired into the "everything is really Lyme" crowd or who derives a significant income from test referrals/repeat visits that are more check-ins than therapy, that can do more harm than good to both her psyche and wallet, esp. in transcending denial (a gradual process, as others have noted). I would try to get her into an ALS clinic or other practice with a clinician (not nec. a doc, could be a PT, OT, RT) that she can trust to provide honest appraisals and ongoing support. If there is an in-person or Web-based patient support group in her area, that might help as well.

 

[hjlindley]

Lori is right. I had at least three negative EMGs until the top dog in the final one and found ALS. I do have plenty of MRIsDue to to spinal surgeries. A lot of the testing that's mentioned is to eliminate diseases such as MS and myasthenia gravis. There are actually certifications in electrophysiology That many of the ALS clinics and their neurologists have. Everyone progresses at a different rate.I had a probable diagnosis in 2009 when only my right hand was involved. I had started waddling like a duck and my GP noticed the twitches and a very high CPK three, which is an product that muscles get out when They are dying.We all are different. We're here for you if you need anything or if you have any questions.
Hollister