This is it, isn't it?

[Hmy1972]

So, as much as I would like to think there is a possibility I might NOT have ALS, the Neuro wouldn't write this much info if he wasn't almost 100% sure, would he?

51 y.o. female with a progressive spastic and now also flaccid dysarthria and emerging limb weakness. With the progressive nature of the disease I suspect that this is motor neuron disease ALS. To make an ALS diagnosis I should perform a clinical exam which I am not able to do through telemedicine. I will have the patient come in person for an evaluation. We discussed that my expectation is that I will be able to objectify the progression of symptoms and confirm an ALS diagnosis. We discussed the alternative possibility of seeing somebody in-person locally and she would prefer to come here.

ALS remains a clinical diagnosis and while we utilize diagnostic tests such as EMG MRI and neurofilament testing these only have a supporting role. In this situation it will be important to know if she has a genetic explanation for ALS and we will try to facilitate genetic testing in her home.

We discussed ALS briefly and some questions were answered. We will continue this discussion after that a diagnosis has been confirmed. We will not initiate any disease modifying therapies at this point.
Consult conducted via real-time audio/video technology by Bjorn Oskarsson, M.D. in Jacksonville Florida Mayo Clinic.

 

[Nikki J]

I am sorry this sounds very stressful but I am confused. How did you get a new patient telemedicine consult at all? Not to mention he does not have a license in Kentucky. My doctors can’t do telemedicine unless you are physically in a state where they are licensed. They actually have some established patients who drive over the border from neighboring states and park somewhere.

I am shocked that he wrote this without examining you and doing an emg and the gazillion other tests needed for rule outs. The only other person I can think of here diagnosed by telemedicine during covid restrictions had their diagnosis overturned with an in person second opinion.

Yes your symptoms sound worrying but you need more evaluation in person. In your place I would go elsewhere for my in person visit. Good luck

 

[KimT]

Are you going to see Oskarsson in person? I read on your previous post that you had been to Mayo, Jax. At first I wondered how you got a telemedicine visit with him but, since you were there, I understand.

 

[Nikki J]

Oh that makes slightly more sense but you still need to be seen in person.

 

[Hmy1972]

Oh, sorry, I didn’t intend to mislead or confuse- I think I am just in shock still. I have had loads of tests and have seen Dr. Oskarsson in person several times. I just had a six month “check-up” to see how my EMG/NCS and NFLC compared. They were thinking PLS, until this last round of testing. I was unable to see Dr. Oskarsson this past time while I was in Florida (thank you Hurricane season) for the testing so we had a telemedicine follow-up. He told me at that time that his diagnosis was leaning toward ALS instead of PLS…. His after visit summary reads a little more than “leaning toward”….

 

[Nikki J]

I understand now. Good luck with the visit. Whatever the label they put on you you are still the same person. An ALS label might give you access to meds and ssdi/ medicare so there might be benefit. Ask about nuedexta as well as the three rs if he diagnoses Maybe ask anyway about riluzole and possibly nuedexta if he doesn’t call it

 

[KimT]

Just out of curiosity, was your NfL in or above normal. I've talked to lots of PALS and even a few with MS and their ranges were all over the place. I have an SOD1 friend who had elevated levels then during the SOD1 trial it went back to normal.

I'm sure Mayo will do the genetic testing on you. I think they're doing it on everyone these days just because of SOD1.

 

[Hmy1972]

My serum NFLC was 54(high), I just completed the SOD1 genetic testing kit, at home, it was pretty simple and efficient, my insurance denied nuedexta, even though my CNSLS clinically showed I qualified for the usage. So a compounding pharmacy is sending me their version. I am now waiting for the respiratory company to contact me to set up my NIV for sleep. I go to Mayo on Monday for my final meeting with DR. Oskarsson. I will keep you posted. Still holding out hope something miraculous happens and he determines it’s not ALS.

 

[KimT]

You're in good hands with Dr. O. Let us know how the appointment goes.

 

[Hmy1972]

Confirmed diagnosis, Bulbar Onset ALS 9/18/2023.

 

[Nikki J]

I am sorry I hope this at least gives you access to medications and maybe benefits that limbo didn’t allow you

 

[Hmy1972]

Thank you. I had my first night on the Trilogy last night. WOW!! This is the first morning in over a year that I didn't wake up with a headache. I forgot how great it feels to wake up NOT in pain. I will take that as a small victory for now

 

[Nikki J]

Definitely. I think ( hope) you will feel significantly better with energy as well as the headache. And probably more alert and easier to ,maintain weight too

 

[KimT]

I'm so glad the Trilogy is helping.

 

[lisa g]

I'm sorry about the confirmed diagnosis. I'm so glad that the Trilogy has helped.