Need opinions help

[Tim1987]

I've seen several Neurologists and had 6 EMGS.
Hello Everyone-just asking for a family member who is 38 years old diagnosed with ALS in May 2023. His C9orf72 gene has 43 mutations. Yale used GeneX Labs and said over 60 mutations of the C9orf72 is positive, 30 to 60 is intermediate, and under 30 is negative. Athena Lab said over 30 mutations of the C9orf72 gene is positive. Columbia Hospital Doctors said they usually do not see ALS symptoms in patients with under 100 mutations of C9orf72, but some patients hold more of the gene mutations in their spinal fluid than blood. My family member is experiencing fasiculations, pain to all joints, slight numbness above bilateral knee caps,severe weakness from the neck down,with no quality of life, and bedridden. He has also had elevated Aldolase lab levels around 30, elevated CK (Creatinine Kinase) levels as high as 7,000, and a positive CASPR2 Antibody. His Neurologists state that these lab values are not typical with ALS patients. His Muscle Biopsy showed Myopathy with few scattered inflammation cells. His EMG’s have showed low amplitude in bilateral wrists, and diffused neuropathy. His first Neurologist diagnosed him with ALS based on the Muscle Biospy Report from the Pathologist, and when we went for a second opinion that Neurologist diagnosed him with ALS based on the C9orf72 gene with 43 repeats of the mutation. He has also tried IVIG, Rituximab IV, Methotrexate PO, high dose Solumedrol IV steroids, and high dose Prednisone PO Steroids with no response. Can anyone share their opinion about this? Thank you.

 

[Nikki J]

If you can share the emg with identifying information removed maybe this will make sense because it certainly does not mow. Re neuro 1 myopathy is not als and muscle biopsies are not used to diagnose ALS

Neurologist two. Leaving aside the significance of the number of repeats genetic status is not supposed to factor into als diagnosis. It is emg and clinical exam. The current criteria ( gold coast) were very clear. There are many c9 carriersbut they don’t get diagnosed without an emg.

If he is as disabled as you say his emg should be florid and maybe it is If it is ALS i would not expect any of those meds to help. Who is managing and prescribing all this?

 

[Tim1987]

Thank you sorry.I'm talking about myself. A family member helped me write it. My Doctor was trying to find something else that I will respond to. That's why he prescribes so many different medicines. I will definitely try to post my e. M. G. My ana speckled was positive as well and also my liver was elevated.

 

[Tim1987]

Emg

 

[Tim1987]

I don't know how to add the photos. I put attached files and it's not working. I'm using my cell phone Samsung.

 

[lgelb]

Was Morvan ruled out? That might be treated with plasma exchange.

 

[Tim1987]

I don't think so because I never did plasma exchange. My neurologist said if ivig didn't work then. Plasma exchange wouldn't work to my understanding.

 

[Tim1987]

EMG

 

[Tim1987]

Sorry I tried to take a clearer picture - I hope it’s clear.

 

[Nikki J]

Thanks Tim. I replaced your photo after I edited out your name.

Now I see why they diagnosed you. The emg sadly shows it. I am sorry you had such a fast progression so young Who is following you now? You mentioned Yale and Columbia?

 

[Tim1987]

The EMG I sent you was my from May 2023.This is my latest EMG from December 2023, and they have not done an updated EMG since then. This Neurologist (who was a second opinion )said it was Multifocal Motor Neuropathy (MMN) or CIDP, and that my EMG had improved, and he was 95% sure it was not ALS. This is why I am so
Confused, and I do not have a split hand either . Thank you for your help.

 

[Nikki J]

Are you still seeing the same neurologist? What do they think of your progression and your lack of response to all those meds? It seems as if they should surely reevaluate you. And you definitely should be seeing a neuromuscular specialist at a major center like Columbia.

If you can get there perhaps Dr Brown at UMass Worcester. He has done a lot in genetics. He was developing a c9 aso but it was the same approach as the two clinical trials that failed so was scrapped

 

[Tim1987]

Im just taking things day by day- I requested another EMG -he told me it will not change his management approach- or change anything- btw he is a Neuromuscular Dr. he ran an ALS clinic in VA. Both drs are ALS Drs.
Did you see any improvements with his December 11th 2023?
This is why we’re so confused because elevated aldolase in the 40s I was under the impression that elevated aldolase by doctors that if aldolase means muscle related not nerve ? Thank you

 

[Nikki J]

I see what you mean about the emg. Still it isn’t normal and your clinical conditions counts too.

Re labs. I don’t know about aldolase levels in c9 and have never had mine drawn but I have other odd lab levels that never got explained My neurologist said maybe c9 related but maybe it is just me I think in spite of the intensive study since its 2011 discovery there is a lot they don’t know yet.

I wish that one of the therapies they tried for you helped. If there isn’t anything new to try and a different diagnosis won’t help you with equipment and benefits theb I understand why your doctor doesn’t do more tests. It is human nature though to want to understand the why

 

[Tim1987]

I had rashes on my head. Forehead, and my chest. It cleared it up with a prescription cream and shampoo. The first.
Neurologist thought I had a few things going on. My arms are just flacid. They're not stiff and my legs are stiff in the kneecap area. But I can still move them. Toes curled down and fingers curled down. Joint pain all over, numbness above knee caps, feels like bee stings that last for 15 seconds above the kneecap area.