Working and diagnosis

[winterj]

Hi folks, I have received a differential diagnosis of motor neurone disease (non-US terminology for ALS) and according to my neurologist won’t receive a formal diagnosis until 8-12 months from now even though he has given up looking for alternatives and I’m on Rilutek.

In the meantime it has left me with a bit of a struggle how to deal with work. I have an office job so fortunately don’t have to do a lot of walking as my legs are weakening. But being bulbar onset my quality and speed of speech is noticeably affected. Extrapolating forward until the formal diagnosis it’s likely I will be barely comprehensible by then.

I’ve told my boss what’s going on and she is sympathetic but it’s challenging without a formal diagnosis. Top management keeps asking what is the conclusion, and although I shared the differential diagnosis they took it to mean that doctors don’t know what’s wrong with me. I explained this to my neurologist and he said this situation is common with neurological conditions.

I want to continue working and need the income but my responsibilities will need to change given my limited speech and mobility.

Do you have any suggestions or experiences you can share about how to deal with work if one doesn’t yet have a formal diagnosis?

Thank you!

 

[lgelb]

I would think in Hong Kong as here the Gold Coast criteria are used...if you didn't meet them, hard to see why you would be on riluzole. So I do not understand the delayed dx and would ask that direct question.

But something had to go on the discharge form and on the prescription, no? Would that be documentation for your boss? Or if you have nothing of that sort, you could ask your neurologist for a letter explaining the delay and assigning you a provisional diagnosis of unspecified motor neuron disease. Or you could give each the other's phone number or email and explain why you would like them to connect.

I would explain to the neurologist that this isn't just about work accommodation -- in an emergency situation, such as a breathing problem or fall, it is very important that the provisional dx be in your records and in your own wallet/phone -- that you have MND, in order to treat you properly.

Whatever his hesitation about a formal diagnosis, he should at least see that from a clinical perspective, and the risk for any improper treatment based on any lack of appropriate documentation falls on him as well.

 

[Nikki J]

What else is in the differential? And would the neurologist give you a diagnosis of progressive bulbar palsy on the meantime? I understand that you really have symptoms beyond bulbar but it seems as if the disabling from work part is bulbar

Is the issue that you do not yet have a fully diagnostic emg ? I am not surprised they gave you riluzole. My clinic Mass General also prescribes when they strongly suspect ALS as it works best given early

 

[winterj]

Thank you both for your replies. To answer your question, the neurologist issued a letter saying:

“I have seen (me) since (date) who presented with speech problem starting 2023. Extensive investigations were done with features suspicious of motor neuron disease. I suggest to do MND panel.”

The Rilutek was obtained from his office so there was no prescription given to me.

Previously I had tests done at another hospital and the summary from the neurologist there said:

“At the moment there is NO evidence of indolent cancer and inflammatory cranial neuropathy. Differential diagnosis is MND and MusK MG.”

My test for MusK later came back negative. So did the MND panel. Also did a Kennedy test, negative too.

Yes, I have had two EMG/NCS including a repetitive one which wasn’t much fun. Since that time both bulbar and legs have worsened. Fortunately no other areas affected aside from twitching.

Overall the issue for work is that normally they are used to seeing something saying “This person has X and therefore…” and not words like suspicious or differential. To them that means there isn’t a conclusion yet.

While I have both of your attention, how difficult do you think it would be to get an appointment with a specialist in the US for a telemedicine initial consultation? I haven’t yet given up (dwindling) hope that something has been overlooked, and I’m getting increasing pressure from my family to look outside of Hong Kong given the comparatively limited resources and expensive with motor neuron diseases.

 

[lgelb]

Yes, several renowned institutions, such as UC San Diego, Cleveland Clinic, Mayo Clinic, Johns Hopkins, and Massachusetts General, offer international telemedicine. You or your doctor would send your records to them via portal in advance of the consultation. I would check with your doctor first to see what pre-existing relationships their hospital may have. Sometimes the visits work best if you are on video while in the medical office in your city. In either case, a second opinion is very common in medicine.

 

[sudulski]

I would have stayed working. My limbs are not effected. But to work in a state prison you need to be able to speak clearly. They let it slide for a while, because if I was ever in trouble I had a radio or personal alarm that let's control find you. But when I got my diagnosis. They social worker at my als clinic told me to quit. I'm really regretting that. I had great insurance and with social security I won't make a quarter of my pay
I still could have done the job for a while. All the supervisors knew I lost my voice and didn't really care

 

[winterj]

Thank you Igelb. I have been in contact with the places you mentioned and hope to have an appointment in the next few weeks. For me this will be a third opinion but the first from a specialist.

 

[winterj]

Thank you for sharing your experience, Sudukski. I plan to keep working for as long as possible. To keep my mind busy and the income is of course needed! That said, I definitely do understand the social worker’s perspective as I’m sure if people are able to retire comfortably that they would. This is one of the times when being a billionaire would be helpful.

 

[ljlorie]

I have lost my voice biut continue working full time in public sector...my work family is great and as I'm scared to be at home by myself ib case something happens. They have made adjustments and help if customer does not understand but I use a talking app. Paper. The boogie board to communicate. But agree telephone or radio would be hard but not undoable.

..keep living life