Any guidance appreciated

[mimi0727]

First, I would like to say thank you to all of the helpful postings I have read in the last couple of weeks. I happened upon the site when I looked up hyperreflexia and have been visiting everyday since. My only knowledge of ALS previously was of one of my favorite high school teachers who was diagnosed my senior year, it was referred to as Lou Gehrig's Disease and he regrettably declined very quickly.
I am 43yrs. old and married to my best friend. I have 3 children aged 19-22 and my step-son is 18. Before becoming ill I was a service advisor in a very busy auto dealership working 70hrs/wk with a 3 hr daily commute. My husband is in the auto industry, as well. We always said we work hard and played harder. We went to the gym 3-5 days/wk, golfed 2/wk, hiked, and traveled.
In the early spring I noticed weakness in left shoulder and lack of stamina and kept adjusting work-out accordingly. I thought perhaps arthritis. By Memorial day I had persistent hoarseness with cough and bad asthma. Treated by my ENT and thought to be allergy/sinus related, by July referred to pulmonologist. Asthma meds changed to nebulizer 4xday and 2 new inhalers, all this time also on prednisone. No change in voice, very hoarse, unable to project and slurring. They both tell me I must see voice specialist in Phila. Voice specialist finds left vocal cord paralyzed and right cord sluggish and send for emg of cords and MRI and lots of blood work. MRI and blood work all clear. Good news! EMG with neurologist shows SLN nerve 80% dmg and RLN nerve 60% dmg. Begin specialized voice and speech therapy weekly in Phila. for next 6 weeks. Develop severe reaction to Prednisone with Buffalo Hump and complications and am weened off completly. By October having difficulty getting out of chair and climbing stairs, can no longer run or dance and have coordination and balance issues. Repeat EMG of vocal cords and find no improvement, voice cont. to worsen along with breathiness. Voice specialist performs medialization surgery and am happy to say I can speak. Voice is still hoarse and difficulty projecting, but breathiness is better because of full glottic closure. She is very concerned about weakness in shoulder and leg and wants neurologist to evaluate. He notices the progression of weakness since prior 2 visits, noted hyper reflexes on left side and toes pointing up on right side. Orders new MRI to rule out MS and is sending me to Movement Disorder Specialist. We asked what he thinks this could be, his reponse is he understand our frustration, said it appears to be progressive neuro-degenerative and he is in process of elimination, (very confusing to us as we have always enjoyed good health and understand solittle of the medical jargon) I must say all of our DR's so far have been great, but the last neurology visit was unsettling. I have been more thorough explaining a client's auto concerns to them!
Every week it seems I loose a function I previously had. Limited movement of left ankle and toes, fine motor skills compromised greatly in left hand with muscle wasting in left hand and shoulder (Was't really scared 'til this started), tongue has twitches(noted by speech therapist), twitches and popping in muscles is worse, balance and coordination poor, now use cane, stopped driving 2 weeks ago.
This is much longer than I intended, I am sorry. I see movement disorder specialist next month and am on cancellation list to be seen sooner. Please advise what I should be asking. MRI for MS came back negative. 1st neuro said he may like to do spinal tap depending on visit w/ 2nd neuro.
Any guidance would be appreciated.

Thank you,
Mimi0727

 

[brendapals]

Mimi,
Just wanted to welcome you and let you know you will find lots of support on here, I'm currently at work so I can't read thru your whole post right now, but, you must trust me, I will read it,
I will certainly keep you in my prayers,
take good care,
brenda

 

[AHands]

unfortunately, diagnosed'ing als is mostly a process of testing and eliminating other diseases. they should know what to check for, but make sure they test for lyme, hiv and syphilis (bad stuff, but treatable). prepare for a long wait. my left hand wasted away four years ago, and its only recently that they've settled on als. patience is needed. try to not stress.

 

[Al]

Hi Mimi. Welcome but sorry for the reasons you had to come looking for us. I'd go along with the spinal tap. It can rule out or show some treatable conditions. I'd be asking the Neuro's if they think an EMG and NCV are needed. That should give them a better picture of what is going on. Hang in there. There's usually a lot of waiting in this game.

AL.

 

[mimi0727]

Thank you all for your kind support. I am quickly learning that patience and a positive attitude will serve me well on this uncertain journey. It only recently occurred to us that we would have to be our own health advocate and educate ourselves. Now, we shake our heads in dismay thinking that we researched buying a new refrigertator with more diligence. Thankfully, we are catching on and your site has provided awareness, education, support and the occasional much needed chuckle.
With appreciation,
mimi

 

[brendapals]

mimi,
Ok, now I have more time to think-mainly because my husband and 3 boys are still sleeping! lol

I would also recommend you ask the dr about an EMG/NCS and also have any doctors/therapists you have seen in the last 6 months send your records, any lab tests, xrays, etc. to the dr you are seeing next month. I have no clue what a "movement disorder specialist" is, but I hope he/she gives you a starting point anyway.

Patience is truly a trump card for you, don't sweat all this, life is far too short to work 70 plus hrs per week, plus a family, plus your symptoms going on, relax, enjoy the ride,

and please know,
we'll support you as much as we can,

take good care,
brenda

 

[CindyM]

Hi Mimi and welcome to the forum. I see you have already met some good friends around here. You are so right that patience and a good attitude will help you in the long run. Glad you decided to join us! Cindy

 

[lydia]

Mimi, you sure do have a lot going on. You have found a wonderful place to help you through making sense of it all.

Brenda, a movement disorder specialist is a neuro that specializes in things like gait disturbances, spasticity, movement issues like tremors and other involuntary movements, etc. That 2nd neuro I saw was a MDS who particularly specializes in Parkinson's. The we-move website describes a whole gamut of issues these sorts of neuros deal with.

Mimi-why are you going to that type of neuro?

Lydia

 

[mimi0727]

Lydia,
That's a good question, and when we asked the 1st neuro he responded with "the process of elimination" answer. Since I visited the 1st ENT, I have had a chest x-ray, diagnostic mamogram, CT and MRI of brain, MRI of C-spine, ultra-sound of neck and supraclavicular fossa and doppler of carotid,repeated pulmonary function tests, MRI from base of skull to base of lungs,multiple scopes of throat with voice dynamics, 2 emgs with ncv of throat(so far found benign thyroid nodules and 2 vocal cord nerves significantly damaged) medialization surgery performed. Lab work ruled out Lyme (done twice because I had Lyme 8yrs ago) rheumatoid arthritis, thyroid problems, vit D&B concerns, Myasthenia Gravis, lead and heavy metals, and a myriad of others.The frustration is that between every referral to specialist(that takes 4-6wks)sched. ordered tests and returning to Dr(another 4wks)for test results has taken us about 10mos from first prominent symptom with no answers except what it's not and an insidious, persistent deterioration in mobility. I do think we are in the home stretch and will know an answer soon. Whatever it is, I have been so moved by what I've read here that I will definitely be volunteering in some way for ALS support. Volunteerism has been one of the "silver linings" of this experience.
Happy New Year!
mimi

 

[brendapals]

thanks lydia,
I had no idea neuro's worked in different areas of neurology. Love to learn new stuff!:smile:

mimi-bless your heart, you certainly have been thru the testing my dear! I certainly hope you can enjoy this holiday with family or friends, and that the new year brings new hope for ALS,
Keep the faith,
-brenda

 

[lydia]

Wow Mimi, I can not believe you had all of that testing going on and only for ten months! You guys are on the ball. I also saw an MDS, in particular for a definitive rule-out of PD. Keep us posted-

Lydia

 

[Zaphoon]

Mimi,

I would advise asking what's on your mind. I would ask questions like:

What do you suspect could be causing all of this?

What are you testing for and why?

What have you ruled out so far and why?

What is left to be considered?

You've been in this process now for a while. I understand doctors don't like being put on the spot but you've hired them to find and give answers. Also, feel very free to voice your concerns about your deteriorating condition. The squeeky wheel gets the grease. (an over done cliche' but fitting)

Best of luck on swift and accurate answers!

Zaphoon

 

[rose]

Mimi, I'm sorry you're having to go through this.... I think that going in for your next appointment, the best mind set is to be willing to submit to any testing your doctor feels will be relevant, but mentally and emotionally preparing yourself for the likelihood that any one given test is not going to bring you the definitive answers you're looking for. So much of testing is just ruling out things, and it its only natural to think going into it, that each one is going to be "the one" that opens the door to answers and treatment. Eventually that may be the case, but often times, unless one is a textbook case for a specific condition, the road is long that leads up to it.

I too had an EMG of vocal cords, and this was the first indication (which I failed to understand at the time) that what was wrong with me was progressive bulbar palsy. My doctor had said to me that it indicated chronic and active degeneration and reinervation, and I just took it to mean that what ever was wrong with my voice had happened at different time intervals. It was a couple more months before any doctor brought up MND to me, and I actually grasped what the EMG had shown. So, abnormalities with vocal cord EMGs do not necessarily equal ALS, it wasn't like I had the test, and my doctors went "aha! you've got bulbar palsy." I do not have the actual raw data from the EMG, just know that all four muscles were/are affected.

I had injections in my vocal cords to bring them together as they were bowed from atrophy. For whatever reason this did not improve my voice quality, or ability to project it. - as in at all. so, it wasn't the actual bowing that was the main cause of my voice problem. This surgery was done last November, and eventually all of the filler was absorbed, and none of the doctors felt it was helpful enough to repeat. If you go to my user profile page, there is a photo album where I added one vocal cord photo...

I also was on prednisone, and for a souvenir, did not get the "hump" but rather lesions on the retina of my eye.

Please keep us updated with what you find out, and good luck to you!

.... Mimi, I just realized that you may have not had enough posts on this forum to view photo's yet. Once you've been around longer and been more active you should be able to see them.