Healthcare Providers for ALS/NMD on East Coast

Both. And most diagnostic delay in als is getting to the specialist.

Sma4 can impact all over including respiratory system and is sometimes fatal though you are not dead yet. I don’t think you have it because of the normal emgs. And I don’t think it is als either. I don’t know what it is and I am nt saying nothing wrong but there are many obscure conditions and frankly some people are un diagnosable There are whole groups on facebook of them
 
When I met with the cardiologist at Tufts who suggested it was autonomic, I asked him why the shortness of breath went away after a few weeks on the beta blocker. He said, “I don’t know.” And no one has been able to explain why my heart rate speeds up so quickly and takes a while to come down - especially while being on a beta blocker.
 
Last question, Nikki. EMGs are used to diagnose JALS variants as well, correct? The fellow who initially saw me at B&W said my EMG was as clean as he’s seen. I’m curious why a muscle biopsy hasn’t been ordered by now. I’ve asked about it in the past.
 
Yes emgs are abnormal in JALS. Muscle biopsy looks for other things like myopathy. It isn’t an ALS test. You would have to ask the denying doctor why one was not done
 
Thank you for engaging me and answering my questions. It’s very much appreciated.
 
Agree that SMA4 and the like (why not presume normal life expectancy?) could be considered. There are a lot of slowly-progressing myopathic syndromes.

And, of course, there is no reason to believe you don't have more than one condition -- often, there is not a grand explanation for everything, especially as we age.

I'd ask for a sleep study if not done. If you are using undue energy maintaining your breathing in sleep, that could peel off the calories and bulk, with swallowing and teeth clenching (that causes jaw discomfort) as a chicken or egg.

HRV even on a beta blocker is not uncommon (it's actually a sign of fitness if you are comfortable otherwise, realizing you are not), esp. as the class is sedating but your heart is trying to support your activity level so esp. for an active person, it is often not the first line therapy.

I would ask about a trial switch (titrating the beta blocker down, not cold turkey so you don't have tachy rebound) to a calcium channel blocker with rate-reducing properties and mild antihypertensive effects (diltiazem comes to mind) if you are experiencing SOB on it. Also, I would ask about pulmonary function testing if not done recently since the SOB became an issue.

An internist can help you with each of these things, whether they are awesome or not.
 
Thank you for your response. I have a cardiopulmonary exercise test at MGH on 9/12. I’m also going to touch base with local neuro on genetic testing. I appreciate your help.
 
I contacted MGH today and was told that they are the same as B&W in terms of scheduling an appointment. Basically, my B&W neuro would need to refer me to one at MGH.
 
Do PFT and PFET results contain language/wording that distinguish whether the cause(s) of the breathing issues point toward or away from a NMD?

Thank you for any consideration.
 
If you have pulmonary results of course the ordering clinician should explain them. There are some results nand combinations of results that clearly point away from any neuromuscular respiratory issue. There are others that can be equivocal-or suggestive of neuromuscular although they usually need to be put in context and correlated clinically.
 
Back
Top