Is it possible to get a false positive diagnosis for ALS?

[brew7661]

Hello Everyone,
This my first post since being diagnosed 2 months ago. I am having hard time accepting this. Sorry if I don't know all the proper etiquette for this forum. My doctors found almost all the symptoms in my first neuro exam and ordered mri on brain, upper and lower spine. these tests were normal. Then they did the nerve conductivity and emg. The doctor said they found upper and lower motor neuron damage in all four limbs. I am waiting for the result of genetic testing, as als does run in my family, sod1 gene mutation. I am 55 years old. I know they are right, but it doesn't seem real. I keep hoping that may be there is some mistake. Has anyone ever heard of very qualified and very expensive neurologists giving a false positive for ALS?
Thanks for letting me be a part of this community.
Bruce

 

[Nikki J]

Hi Bruce. I am so sorry you are joining us but welcome

Were you diagnosed by a neuromuscular specialist and did you get a second opinion? Misdiagnosis does happen but it is not very common if you have been seen by the proper specialists. Are you looking into the SOD1 gene blocking trial? I believe they help with travel expenses. If I were SOD1 I would be begging to enroll. https://clinicaltrials.gov/ct2/show/NCT02623699?term=Amyotrophic&recr=Open&cntry1=NA:US&rank=40

Being FALS is hard. I am C9orf72

 

[lgelb]

Bruce,
Sad to welcome you. As Nikki notes, misdiagnosis is unlikely and if you qualify, would definitely go for the SOD1 trial.

It is completely normal to feel denial, maybe the most at the beginning but to some extent throughout the rest of your life. The good news is that there are likely years left to live for you, and if you opt not to remain a prisoner of the diagnosis itself, there is a lot of technology, as you have probably seen in your own family, that can help you leverage your abilities as far as possible for as long as you choose. We will support you however possible.

Best,
Laurie

 

[brew7661]

Thanks Everyone,
I have seen two doctors already and have an appointment with
University of Miami next month. They will do all tests again. When I get the gene results, I will definitely to get in the clinical trial.
Thanks- Bruce

 

[Kristina1]

I don't know the answer to your question (about misdiagnosis rates), but I do empathize. 6 weeks ago I received a provisional MND diagnosis. A month ago I received an official diagnosis of ALS., and a few days ago I received the 2nd opinion final confirmation of the diagnosis. It still does not feel real to me and I still in some part of myself expect to one day wake up and be normal again and find out it was all a big mistake. It is really hard to accept and others on here have assured me it is normal and totally okay to hope for it all to be a mistake, even if logic/evidence is not on your side in that hope. Hugs to you and your family.

 

[Nikki J]

Miami is a great place to go. One of the doctors Michael Benatar has been studying FALS by following gene carriers before symptoms. I think when he started it was mostly SOD1. He also was the CI for the Arimoclomol trial in SOD1 that showed some promise in slowing disease

I would consider contacting some of the trial sites now to find out who is still enrolling and be ready when your results come back. You can tell them you have an ALS diagnosis, are from a SOD1 family and are waiting for the gene test to come back. The trial has been going on for over a year so some sites may be full. They are going to have an open label extension after where all the SOD1 participants get the real thing. The clinical coordinator at my clinic was really excited about this

 

[brew7661]

thanks for the kind words. It's good to know other people share your feelings. It really does feel like a dream and you can't wake up. You hang in there and so will I.

 

[brew7661]

Yes Nikki
I will be seeing Dr. Benatar. He is one of the best and I am very lucky to be involved in his research. My family history of ALS is so extensive that researchers from everywhere want to guinea pig me. Miami is only 2 hours from Boca Raton so it won't be difficult. Dr. Miller at Washington University in St Louis has also contacted me. Probably do that one as well.

 

[Nikki J]

That's great. Ask Dr Miller about the trial. There's an arm at Wash U. Maybe your visits can be a twofer