Undiagnosed VENT :-x

[Jannie_M]

Still on the testing merry-go-round.

I got the results of my esophageal motility test today, and I can add "unspecified dysphagia" to my increasing list of documented symptoms.

So far they have ruled out MG, MS, thyroid & Lyme disease, and pretty much any auto-immune disorder.
I have had an MRI with contrast of the brain, 3 EMGs, (by 3 separate neurologists) including repetitive stim, single fiber, and nerve conduction. One muscle biopsy, slides are now at a 3rd place for evaluation (1st two said they saw pathological changes but nothing affirmative), more than 30 tubes of blood drawn, a very poorly done spinal tap, and last night I had a cervical spine MRI.

My symptoms started as fatigue, tripping, ptosis, hand weakness that I thought was carpal tunnel, and severe constipation.

In the 2 years since I started the diagnostic process it has progressed to atrophy of my right ankle and foot, hyper reflexes on the right side, muscle twitches and spasms, neck weakness, the ptosis is now muscle loss in the right upper quadrant of my face and starting across my forehead, and am I very uncoordinated (not that I was all that graceful in the 1st place)

I am officially sick and tired of mis-communication and missing paperwork between doctors offices, I am tired of tests, and referrals, and months for appointments just to wait for hours in a waiting room, then an exam room.
I don't want to look at another disability paper, make another co-pay, drive another 4 hours to be told I do not have a disease that was ruled out twice already, and I am especially tired of all of well-meaning but extremely annoying friends and family members...... "have they checked you for this?"...."you should go to the chiropractor"......."I saw this article and it sounded just like you"..... "You need to stop using artificial sweetener"..... "this family member has narcolepsy, parkinsons, lupus, cancer, thyroid problems"... "You need to come to NY and go to my rheumatologist, he is the best".... "have you been to a psychologist, maybe it is stress?'

Then there is my Dad... I LOVE my dad, but he has always been very emotional, more so since his open heart surgery a year and a half ago..... he can't see me limp, or choke, or even see me in my pajamas in the afternoon on a weekday without crying.

How many more tests do I need to have to find out what is wrong with me?
What do I tell people when they ask me what is going on?
Do I have ALS?
If i is...
How much longer till I find out?
Will I have time to cross some things off of my bucket list before I am diagnosed or will it be too late by then?

If it is not, then can we please stop testing and do something?

 

[island]

Hello. Janet.
I'm in the same boat as you. The doctors say no ALS. Thank good for that, but they don't find the reasons for my weakness. It's not in my head and I'm tired of tests,no more EMG thank you.
What did they say on Hopkins?
wish you all the best

 

[olly]

janet,i am so sorry to hear your distress and myself and many others have been in that limbo land so know exactly how you feel.
i had 7yrs of limbo land and even my diagnosis of pls is not a 100% certain ,it will take an autopsy to do that.
from my experience as long as the neuro's believe there is something wrong,they are understanding and you are getting help with things like meds or help with mobility then thats what matters for now.
i think those of us who elude the diagnosis for so long have more complicated stuborn bodies that dont want to share with the doctors.
going through those 7yrs of limbo land made me a stronger person .
i hope you do get some answers soon,maybe the completed biopsies or the spinal mri will hold the answer.
my thoughts and prayers are with you.

 

[notme]

Limboland sucks--but with three clean EMGs--the chances of it being ALS are slim to none.

Doesn't mean nothing is wrong--but increases the liklihood of it being fixable.

I'm assuming the EMGs are normal? Is the NCV normal?

You listed all the tests-but not really any of the results, other than blood results.

There are an entire host of things that could be going on--and they don't even necessarily have to be connected.

Find a good doctor that you trust--and stick with them. It makes the process harder when you go from one doctor to another to another.

It would help those here to perhaps point you in a direction if you list the tests and the results, I think. UMN is hard to track down (spasticity, cramps, spasms, hyperreflexia, etc)

Atrophy is LMN--what do they SAY is causing it? They must (or should) be giving some idea of what it is. Are you seeing a neuromuscular specialist or a general neuro?

Have they ruled out Pseudobulbar palsy? How did they rule out MG? (There is more than one test--and it's the more likely cause for facial involvement) Gullian-Barre? Some type of neuropathy? Myopathy?

Are the doctors seeing the atrophy? If so--then obviously they need to find some answers for you. You're in my thoughts--it does definitely suck to be going downhill with no real answers. Been there, done that.

 

[gracefullyteaching]

Jannie M,
I am in your boat as well. When I read your post I felt as if I could have written the last 7 lines. I have also had MG, MS, & Lyme taken off the table. I don't know where I belong, it's hard to answer anyone who asks how I am doing, so I say I am fine, yet my hands continue to lose muscle, more so one side than the other, and I have terrible back pain which started about 6 months ago. I feel as if my torso is weakening, but I am not to any point where I can't do something. Anyhow, this isn't my thread, but I feel your frustration. You are not alone. In the meantime, my mental strategy is to wake up each day and face life with a smile, and whatever this is has made me appreciate much more in life. Sending a hug.
GT

 

[rose]

Hang in there, you're making progress even if it doesn't feel like it. The latest findings could be unrelated, or, they could be one of the missing pieces of the puzzle.

You've sent the muscle biopsy off to Hopkins, and had another test... Johns Hopkins really is a wonderful facility, let them analyze the new information, and hopefully it will mean some answers for you, at least it may narrow the field.

I know what you mean about your dad. I've always felt that it was a blessing (for my daddy) that he passed before I became ill. It would have been truly awful for him.

As to the well meaning friends an families, we ALL have them. It won't end once you have a diagnosis either. It helps to force yourself to smile, and thank them for their concern, and change the subject! After some practice its not that hard to do. Its kind of like learning to accept compliments gracefully, it may feel awkward at first, but it gets easier once you get the knack.