Earliest Symptoms & Diagnosis?

[Jannie_M]

I have been dealing with increasing symptoms for over a year now. I have had a variety of tests with my GP and 2 neurologists thus far. (Bloodwork, Brain MRI with and without contrast, Spinal Tap, EMGs, and muscle biopsy)

So far everything has continued to come back "inconclusive" for various diseases.

My last neurologist, while giving me a list of things he had tested for, ruled out, and what could not be ruled out... had said that the ALS was "generally unlikely" because one of my early symptoms was ptosis, which is not a known symptom.
So, I seriously thought ALS was off the table.

My next EMG and consult is in September at Johns Hopkins with the neurologist who is a Professor of Neurology with the ALS clinic.
He was NOT the Dr I was originally referred to, but after they were faxed all of my records, he was the one that took (or maybe was assigned) my case.


My questions are these.

1.) Has anyone had experience with Johns Hopkins?

2.) For those of whom have been diagnosed, or have been on this forum long enough to have learned more than I have from others, did you have (or do you know of anyone with) any symptoms that were "uncommon" for ALS?

3.) Do you make regular trips to a specialty clinic, or do you have your GP handle your care locally in conjunction with a specialist? The closest treatment facility for WHATEVER Neuromuscular disease I am diagnosed with is 2 hours away (in good traffic)

Thanks for your time and attention :0)

 

[kmendsley]

1. 3. I do not know since I have not had experience in these areas.
2. I can help you with. Yes. Lets just say my diagnosis took so long because it is so very rare, for my gender and age to be diagnosed with ALS. (young female). I also had some early on weird symptoms that didn't follow suit, but as time went on those weird ones grew into more 'obvious' and 'common' symptoms of ALS. Weakness, paralysis...the whole gammit. Everyone's body is different and presents in a different way, so everyone will have a little bit of different symptoms. Best of luck to you in your travels.

 

[Al]

I'm an hour and 40 min. from my clinic in good traffic and feel it's worth the drive. You get to see all the docs plus the OT,PT,DIETICIAN ETC. For me it's worth the drive. My symptoms weren't 100% typical either.

AL.

 

[Ms. Pie]

I also had some weird things that were not ALSish. A lot that were though.

 

[gracefullyteaching]

hi Jannie M,
I am also undiagnosed but have been cleared of so much. I am driving 2 hours to Boston to see a neuromuscular specialist and will continue to drive the 2 hours each way if need be. I want to have the confidence I am seeing the best who have perhaps seen variations of whatever this is.
Good luck--
GT

 

[Jannie_M]

Waiting has been the hardest part. During a visit with my GP this past week, he said my hubby and I need to "prepare" for a diagnosis that has no treatment or cure, and specifically mentioned ALS. When I go to Hopkins, it will be almost a year since my last EMG, hoping it won't be "inconclusive" this time. I am tired of dealing with the unknown.

 

[gracefullyteaching]

hi Jannie,
I completely relate to your post this morning. I was reflecting myself that I am also approaching a year since my symptoms started, and if something hasn't been discovered by now, it can't be good. Dealing with the unknown is so hard-- the waiting, wondering, unable to talk about it with friends/co-workers... trying to hold it together. "Preparing for the worse while hoping for the best" -- so true from your signature. Keep us posted. Hoping you can find the gifts in today.
GT

 

[rose]

I drive to Hopkins. It about an hour 15 in very good traffic. When I first started going, (before I moved) it was over a 4 hour drive. I've never, even once, thought it was not well worth the effort.

About your symptoms not being typical. Like others have responded, yes. Probably a lot of people have a thing or two not usually associated with ALS. That is why it is vital when the waters are murky, to get the clinical observations by the absolute best neurologist that you're able to get to.

As for driving to Hopkins, if you have GPS, its best to put in the address for the parking garage rather than the hospital. Depending on where you're coming from in PA, you could be travelling either direction on North Caroline Street, so the turn to McElderry would be left or right depending. . When we were there a couple of months ago, that garage was under maintenance construction, and they were directing traffic into the garage that is normally used by hospital staff. It is no biggie though if this is still the case, because the garages are literally across the street ( a hospital access type side street) from each other.

Good luck to you!

 

[rose]

In reference to the remarks about length of time for diagnosis; people who do eventually receive an ALS diagnosis, but it takes a longer than typical time for this to be sorted out, also have a slower progression. The less of a text book case you are, the chances are, if it is indeed a MND, the slower your progression will be.

It helps to keep that in mind. (And its not just some sort of apocryphal story, it is borne out statistically).

 

[Jannie_M]

In my battery of testing MS, MG, and other auto-immune diseases have been ruled out. It was my EMG as well as a muscle biopsy that were ruled "inconclusive"
I knew they were testing for mitochondrial myopathy, was blown away when my GP mentioned ALS.
There is significant atrophy of my right foot, and mild atrophy in my hands, as well as twitching in voluntary muscles, especially in my diaphragm.
I am *not* trying to self-diagnose, just preparing myself for what may come.
In my search for information I found a blog for a man who recently passed away as a result of his disease. He said the best thing he did for his wife/caregiver as well as himself was stay ahead of the symptoms; he used a walker before he broke any bones, had a power chair available just before he needed it, the same with breathing assistance, and nursing care.
No matter what is going on, I know I am getting progressively worse and I want to be as prepared as possible for whatever comes my way.
Thank-you to everyone for your responses :0)

 

[rose]

Jannie,

For your MG testing, was it only the anti-bodies titers? Or, did you have 1) the Tensilon test, and 2) single fiber emg? 3) repetitive stim ncv test? If you did not have at least #2&3, then your doctors have not really ruled out MG.

When you get to Hopkins, they may very well want to schedule you for the single fiber emg and repetitive stim. They like to rely on their own testing results, interpreted by their own medical staff.

The tensilon test will show remarkable but temporary improvement if a person has MG. I will go look for, and post a link showing a golden retriever who has MG, and how the dog responded to an injection of tensilon. I've posted the link in the past, but its easier just to re-post, then try to find my old one, and link it to this conversation. And, as links now need moderator approval to show up, it may be a while before it will be visible here, but look for it later.

 

[rose]

Here is the tensilon test link:

‪Positive tensilon test‬‏ - YouTube

keep in mind that the dog limps because of Myasthenia, The bandage on his leg is not due to injury, but protects the port previously placed for iv injection. He will get two injections, one of the tensilon, and then saline to rinse.

I do not know if tensilon is effective for those with AChR negative MG.

 

[Jannie_M]

Thanks for the link.
I had actually asked for the tensilon test from each of my neurologists. Apparently, it is no loner widely used because of its effects on the cardiac muscle, which is very dangerous for people with muscle loss.
My 1st neuro put me on mestinon and prednisone, while waiting for insurance approval for the musk test, and the only results I got were weight gain, so they weened me off of them while I waited for my appointment in Hershey.
Hershey did a ton of bloodwork, including the blot test to check for lyme disease, a complete auto-immune and thyroid pannel, the EMG, repetitive stim, and single fiber.
I was not given specifics on what they found, but I was assured that, even though something "wasn't quite right" when they did all of their needle sticks, that it was not MG.
They went on to do a spinal tap (clear for MS) and a muscle biopsy (looking for mitochondrial myopathy... had signs of pathological changes but no conclusion as to why) I will have to see if the Docs at hopkins will chance the tensilon test since I know my ticker is fine.

 

[rose]

Jannie,

The tensilon test is remarkable in its effect for someone with MG. If your single fiber and repetitive stim test had unclear results, it is possible that Hopkins will want to try it, however, like you already know, it is not used very often any more. I think the single fiber and repetitive stim also will give a better picture, because, like I'd said earlier, MuSK negative MG probably will not respond to the tensilon. I'm not certain about that though. Something I read about the specific antibodies makes me think it is those that react to the tensilon... been a long time since I've thought about it, so I could be confused, too.

If I were you, I would be working on getting all actual lab samples, films, etc, and sending them to your doctor you will see at Hopkins. It can take a while, but it may save you time later, and you have the time now while you wait for your appointment.

If you call the hospital, or lab facility where you had biopsies and so forth done, and explain what you want to do, they can and will (preferably) send them Fed-Ex directly to Hopkins for you, (but you would pay for the fedex) or, you can pick them up, and either mail or take with for your appointment. If you have them sent on ahead, its one less thing you have to do for your visit. It can be overwhelming when you get there, and there are so many questions, etc. Be assured that they are definitely going to want actual emg and ncv raw data, films and biopsies - not another facility's neurologist or radiologist's interpretation. And, even providing it will not necessarily mean they won't want to re-run. Either way, it is to your advantage to give them as much previous information to analyze as possible.

I still remember an ENT I saw back at the beginning of my journey. He was very well respected, and so nice and kindly, and he looked at my vocal cords, and said he knew they didn't really look right, they were too thin, but he didn't know what to make of it. He took his hand and made a gesture indicating the level of his expertise in just vocal cords, he said, "I am here" - and he held his hand about chest high - "but you need someone who's diagnostic capabilities are here" and he held his hand up above the top of his head. My point being, when good doctors want us to go to another level of expertise, then, not only is that an indication that they themselves are great doctors, but that you really do need to go, and come armed with all of the information that has been gathered prior to your visit.

If you've had unclear test results, and the testing you have had sounds advanced and complete, then, there most likely will be nothing you can learn, as far as insight to what is causing your problems on this forum or any other. We know "norms". We know what really does not fit, and what does fit. Gray areas, not so much.

Also, the NIH has a program that accepts a certain number of patients each year, for rare and unusual diseases. If accepted into the program, all diagnostics and care are free of charge. Due to the delay with moderation for link attachments, I will attach it after I post this reply, so just come back and look for link after it shows up. Hopkins is still your best bet, but its good to know that even after Hopkins, you still have options. You will get your answers, it just can take a long long time in some cases.

 

[rose]

Here is link to information on the NIH program.

https://www.alsforums.com/forum/do-i-have-als-als/6991-long-time-undiagnosed.html