Backing into a diagnosis

[Comoguy]

Hello! I've been poking around the forum for a few months now and I think it is time for me to face facts.

About 18 months ago I started having problems with my balance. I didn't fall but stumbled and couldn't take my eyes off the floor as I walked through crowds. By the time I saw my GP a few months later it was getting worse and he referred me back to a neurologist I had seen a few years earlier for neuropathy. She did EMGs, sent me for a brain MRI and said to come back in six months. MRI came back clean but things continued to deteriorate. I had to start using a cane to steady myself while walking and my walking slowed considerably. I saw her again last September and again she did EMGs of leg, arm, and in my back. When she was done she said she would refer me to an ALS specialist as that was her diagnosis. My dad had all the symptoms of ALS when he died over 30 years ago and a brother had Frontal Lobe Dementia so I can't say that it isn't a distinct possibility that there is something in the genes.

I have been to the specialist twice now for EMGs and she said that it is ALS in my arm but my leg is very slow progressing. She started me on Rilutek in December and I've started using a walker at work which is a great help. Despite all that she still is holding back from making an ironclad second opinion that it is ALS.

Yesterday I got the results of a PET scan which showed no sign of a tumour (great!) but seems to turn the focus squarely back on ALS. It is utterly bizarre to have hoped for a tumour but my wife and I rationalized that at least there would have been a likelihood of treating that. It sounds stupid but there it is.

So, I guess I am backing into a diagnosis. I see the specialist again in April for another round of EMGs and should have the results from a lot of blood work that she ordered.

That's my story. Thanks for listening. It's all so confusing...

Cheers,
Stephen

 

[gooseberry]

I get it. When my husband was going thru the process he said it was the one time you wanted to have cancer.

 

[Nikki J]

Sorry to hear this. So are they calling this possible ALS by El Escorial criteria? I am glad your doctor says leg is slow progressing which is better than fast! But I too understand that cancer would have been good news.
Sorry too to hear about your family history. Something to discuss with your doctor. Especially is you have kids consider gene testing. I think in the future they will be able to treat gene defects before symptoms but that only would work if there was an identified gene to test for. FTD and ALS in the same family is most commonly associated with c9 orf72 but it happens in other gene defects sometimes. I know some people with sod1 and similar family trees

 

[Clearwater AL]

It is interesting that you mentioned a PET scan being it was somewhat mentioned in a previous Thread. Some never heard of it, even doubted it, seemingly uncommon. Was it the F18 PET scan? Did they tell you exactly what the scan indicated? Being it's Possible ALS without an iron clad (as you wrote) diagnosis yet there's still hope.

 

[Comoguy]

Nikki, the ALS specialist mentioned gene testing but said it had to be approved by the hospital first due to the expense. I hope to know more about that when I see her in April. We have two adult children so they too are anxious to know what is going on and if they need to have it on their radar. Sorry but I don't know what criteria is being used for diagnosis. I'm quickly learning that I should be more aggressive in understanding what is going on and what the specialist is thinking. My dad was a doctor so I guess I learned a long time ago not to question the doctor!

Al, I should mention that the PET scan was ordered last March by my original neurologist. Yes, it took 11 months to get an appointment. This was before ALS was on the table so that is why it may seem odd. I do not know if it was the F18 PET scan. Lots to learn...

 

[Nikki J]

People are comfortable with different levels of explanation. Some prefer to let things unfold but if you want to understand better the questions I would ask would be about the findings in each area of the body. What did the EMG show in the arm and what were the exam findings ( things like reflexes including Hoffman and increased tone? What is going on with my leg(s) EMG and exam again reflexes including babinski? Is there anything abnormal in my other arm? Any bulbar signs?
How was my breathing? ( generally given as a percent). Again not everyone wants to know all this
Re the gene testing glad it is in the works. Tell your kids there is every reason to believe there will be treatments and a cure for genetic ALS before they could possibly need it

 

[Comoguy]

Thanks Nikki for some questions to raise. That's a great help and appreciated.

 

[Nikki J]

And I guess the jackpot question is what does this mean to my current diagnosis? ( read up on Revised El escorial criteria for ALS and Awaji criteria for ALS)
Is there anything else still on the radar or is it just that I do not meet the criteria in enough areas yet?

 

[Comoguy]

Thanks again Nikki. I am one of those people that doesn't question a doctor and just trust them to communicate clearly but am coming around fairly quickly to see how naive that is. My first visit for EMGs with the specialist in November ended with her telling me to see her secretary for more tests and then her leaving the examining room and disappearing. Luckily she's been better on my two visits since then and the folks at the clinic with her have been great.

I will have a look at what you have suggested but find that trying to make sense of sites that are aimed at a medical audience is too complicated for me. It is a language I do not know. Perhaps others have been able to get up to speed to make sense of it but, at the moment, it is all just overwhelming. This forum has been very helpful as it is based in reality from a layman's point of view. Just knowing that there are others who have been and are going through similar experiences is very helpful.

Sorry to read Nikki that ALS has run rampant through your family and has reached out for you too. That sounds so devastating.

 

[Nikki J]

Take it slowly. The first part to understand is upper motor neuron disease and lower motor neuron disease ( ALS is both)
Once you understand that and how it affects your body and the exam then the criteria will make sense
Thanks for your kind words. FALS adds a whole other layer and I am sorry you are pointing that way too. The good part for our families is they understand now more about our type of ALS so they are probably closer to fixing it

 

[Comoguy]

Reading various threads here has been a great help in starting to understand this disease and how people have dealt with it. I watched the ABC's of ALS on Youtube and it is a terrific primer on what is going on and how things might develop. In my situation I am still hanging on to the hope that it may not be ALS but I have to be prepared as it certainly seems going that way. Lots to learn.

One of the practical steps we are taking is moving in April to an apartment that is more accessible (i.e. no steps) than the one we are in now. As well it is Montreal so that if I have to stop work sometime in the next year my wife Diane will not have to commute as far to her work downtown as she does now.

Thanks again Nikki and Al for raising so many good questions. I've got some homework to do so I can be better informed before I see the specialist again next month.

 

[gooseberry]

Comoguy, I would also make contact with your local ALS society. They have social workers, equipment to lend, and a host of information. If you google Canadian ALS association you can read about the disease from different viewpoints, check out the services and resources they can provide. I used their materials for talking with kids and for working with schools. They have a lot of good resources online.

 

[Comoguy]

Thanks gooseberry for your kind advice. I have held off on contacting the ALS society because I am waiting for the specialist to come down firmly on one side or the other of whether this is truly ALS. The signs - as far as I can tell - seem to be pointing in that direction and she says that it appears to be slow progressing but she stops short of signing off on a firm diagnosis. So there's still some hope for something else even if it appears to be fading a bit. That uncertainty is also the reason I kept quiet here on the forums for a few months. The results of the PET scan last week kind of jolted me back to reality.

I read a thread here a few months ago saying that one couples first reaction to their diagnosis was relief which, off the top, sounds odd and they acknowledged that, but I can understand it as this limbo (pretty sure but not entirely sure) is exhausting. Sharing that frustration helps.

 

[ECpara]

Comoguy, so sorry you are going through this. Your story reminded me of my husband's first MRI. The neuro was suspecting he had a stroke due to his slurred speech. When it came back negative my husband was high fiving everyone. Yay, no stroke! He had no clue. But I did thanks to my obsession with google, and I was devastated. The rest is history.

 

[Comoguy]

Thanks ECpara for your note. As the saying goes "hindsight is 20/20" Who would ever think that having a stroke or a tumour would be a preferred outcome? Say that to any healthy person and they would think you nuts or worse but here in this wonderful forum it all makes sense. I hope that your husband is slow progressing.