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Kenobi

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Hello,

My friend and mentor was was just recently diagnosed with ALS/MND. It flipped us both on ours heads. Since regaining a little footing however, we've been doing a great deal of reading and research looking for...anything to help really. We've come across some naturophathic treatments for symptom management and the rilutek has been started; and we are following a few clinical trials as well, mostly just tracking their progress so far. In the mean time we've learned more about ALS/MND but still have (just as many) questions.

We've learned that ALS/MND is a progressive disease that presents differently in every person, so no one case is ever the same but we have been wondering the neurologist was perhaps premature in his diagnosis or too focused on family history; or perhaps correct and we are only seeing the very early symptoms of this process.

Most likely this is familial ALS/MND as there is a family history with an Aunt and Grandmother who were diagnosed with ALS but the mother is still negative or at least showing no positive signs of having active ALS/MND. The other symptoms we are questioning are large lack of upper motor neuron signs aside from muscle tightness in one leg; however the Babinski's or plantar reflex test was negative and there is no presence of hyperreflexia or brisk reflexes in the affected limb. There weakness with very minimal muscle atrophy; fasciculations or twitching, and spasms and cramping are also occuring. And he tires more easily. Blood tests were negative and the EMG indicated nerve damage, I don't know if there was a conduction block.

The most concerning symptom that has developed recently is thickening saliva, but he is unsure if it is genuine or if he is psyching himself out or if it is his allergies acting up. He coughs or clears his throat more often, I've noticed. Which doesn't bode well for an alternative diagnosis but...I guess we're still in some denial.

I suppose the real question is, is it worth the expense to obtain a second diagnosis? I know not every case is the same with this disease but some insight from those who have walked this road would be appreciated.

Thank you
 

Nikki J

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So sorry about your friend. Yes a second opinion is a good idea even if your first was from a neuromuscular specialist. If it was not then it is absolutely needed. Seeing your location think you went to Barrow? If not do.
Without knowing the details of the EMG hard to comment on whether rush to diagnosis but not everyone has a lot of upper motor neuron signs especially at the beginning. He may be lower motor neuron dominant
The good news about FALS is they are working on treatments for the two most common defects sod1 and c9. Does he know the family defect and has he been tested for it? If it is unknown have they discussed testing him. they can test the whole panel of identified mutations or test the more likely one or ones based on family history and ethnicity first
Good luck
 
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Diane H

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The family history is highly indicative of ALS, and it would be surprising if it weren't. His mother not having ALS is common in familial ALS. But it is reasonable to get a second opinion with a disease as hard to diagnose as ALS. Ask the doctor for a referral to an MDA/ALS Center.
 

Atsugi

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Kenobi, just two things:

First, ALWAYS get a second opinion from a neurologist who specializes in Motor Neuron Disease. Damn the expense. It's literally life or death.

Second, forget naturopathic crap. If you've ever been cured by a naturopath, you were going to be cured anyway by your own immune system.
 

Blondrea

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I agree it is important to get a second opinion. If possible, at another facility. We changed primary care physicians, and were thus able to transfer from the UCLA system to the Cedars-Sinai system. So, we got pre-approval and (knock on wood)the only cost will be the deductible. Good luck to you. Lack of Upper Motor Neuron signs is something to be hopeful about in my opinion. We were not so lucky.
Andrea
 

Kenobi

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Thanks to everyone for the advice. He did go to Barrows but I'll keep trying to talk to him about a second opinion. It certainly won't hurt to check again. Thank you all.
 

bigmark1954

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Denial is not a river in Africa.....I question my diagnosis almost daily, then I try to stand up or say something, or choke on my morning coffee.
Absolutely get a referral to a doc that specializes in MND's. Your friend needs to know one way or another. A garden variety Neurologist often will misdiagnose or be stumped. A good MND clinic doc will have an answer (reasonable concern) by the end of a thorough exam. When he does the EMG, you both will know...GOOD LUCK
 

krnNdug

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I go to the Barrow's Clinic and trust them completely, but there are a couple of other ALS specialists in the Valley where you could get a second opinion. I can give you the name of my neurologist who diagnosed me before I went to Barrow's as well, just PM me if you want that. The other clinics are run by ALSA and I am also very involved with them. I know they would welcome to either support group. I go to the East Valley group, but they have one on the west side as well. The local chapter has a great team and can help you and your friend.

Doug
 
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