1/5-2 years worth of symptoms, no answers

[capegirl]

Hi All,

I've been experiencing issues for about 1.5-2 years, that have progressed slowly and more rapidly within the past 6 months. Would like your take on them, if it sounds like ALS or if there are any similar stories by members that it ended up being something else. I'm a female in my early thirties, always been very athletic and healthy.

I first noticed a weakness/constant ache in my left leg about a year and a half ago. Shortly after I also started experiencing weakness in my back and abdominals. I was experiencing a lot of back pain and was starting to have trouble with some of my regular lifting routines at the gym.

I also started noticing weakness with my eyes which I thought is strange and maybe not common with ALS. If I eat anything my vision giggles around and it feels like they are moving in slow motion when I try and focus on things. Sometimes walking too, everything around me bounces.

Earlier last year I started noticing subtle things that I kept brushing off as me being clumsy. Dropping things with my left hand, tripping on the sidewalk. Now my left hand is really bad. My fingers twitch and there is noticeable atrophy in the fatty pad below my thumb, something several neurologists and my PCP pointed out. It's getting pretty hard to hold on to things such as water glasses or wine bottles with that hand. I currently work as a waitress and this is definitely making my job tricky. I have some weakness in the other hand as well, but not as bad as the left.

I used to be an avid cyclist and runner but gradually gave those things up over the summer. Now I'm starting to huff and puff just going up stairs. And I hold tightly onto the railing going downstairs, I feel very unsteady. Even just walking around tires me out. Washing my hair or folding clothes makes my shoulders burn like crazy and I have to take frequent breaks. Several months ago I noticed I was having bad balancing problems, always leaning on things, or swaying a lot when I tried to stand up straight. My right calf muscle is considerably smaller now compared to the left, something several doctors have also pointed out. I measured it, and it's about 2 inches smaller.

I also see tons of little dents (what sort of look like cellulite, but I don't have a lot of body fat) in my legs, upper arms, as well as on the sides of my ribs. A few of them I have definitely watched start out the size of a pea and grown larger within the span of a month. Including one on the top of my cheek.

I have a ton of weird face/mouth problems. My face has thinned out a bunch, people keep asking me if I've lost a lot of weight, I haven't, maybe gained some actually. A constant thick mucous in my throat which I developed in the summer and hasn't gone away. There's a definite large lump feeling in my throat when I swallow. It feels like the sides of my cheeks are caving in, they just rest on my teeth and you can see my teeth indentations in them. Sometimes when I smile or laugh my cheeks start burning. My jaw clicks on one side when I open it. My tongue is very rough and looks like it's covered with a bunch of sores all the time. It sometimes gets tired if I'm talking a lot at work, but I don't slur and can move it around ok. My lips even feel weird, and I have trouble drinking with straws or drinking out of glasses without water coming out the sides of my mouth.

I didn't really even think ALS would ever be a possibility until about 6 months ago when I started getting constant muscle twitching. And not like regular twitches I've had in the past. Sometimes they are kinda violent, like it feels like someone is punching me in the back or something. I get them pretty much everywhere, I've seen them in my hands, legs, stomach, back, neck, face, lips, butt. I also experience a lot of cramping and spasms. Sometimes the side of my face will just tense up all on its own. Or my foot will cramp up and all my toes will spread out, it's weird.

Over the past 3 months or so, I've started getting a rigid movement when I move my wrists up and down or either of my feet up or down, even raising myself from a lying down position. It's sort of like a second hand ticking. Like a chink chink chink. I don't know if that's a result of muscle weakness or what. It starting to scare me quite a bit, especially since it's now so widespread. It doesn't seem like anything ever gets better, some things might bother me on certain days than others.

I've seen many many doctors and neurologists. Tests all coming back clean. CPK levels normal. No lyme, no lesions. Several clean EMGs too even though doctors agree there is definite weakness and atrophy in my hands and leg. Last doctor said he suspected possible MND based on my exam and wanted to repeat EMG. It was again clean except for some damage now showing up in left hand. He said he can't diagnose me with anything, not to worry about it and to come back in 6 months. I asked him if there was anything I should be doing or not doing and he said no. It's a bit frustrating. I don't know if I should try and exercise or if that is going to make things worse. Last spring I was lifting 25lb weights in each hand and now a 5lb weight makes my arms and shoulders shake. Should I be trying a place like Mayo or see a rheumatologist? Just wait it out? Exercise or take it easy? Sound like ALS? What do you guys think?

Thanks for reading and I welcome and feedback you guys have.

 

[gooseberry]

I suggest you get an appointment with a doctor that specializes in neuromuscular diseases. Most neurologists are general practice and struggle to understand mnd. A specialist in neuromuscular diseases should be able to give you an answer but it could take some time. While you are waiting, get copies of all your bloodwork,scans,emgs,etc from all your doctors so you have everything for your appointment .

 

[GregK]

Aches, burning and dents have little to do with ALS.

Please read the sticky note at the top of this forum titled "New Members: PLEASE READ BEFORE POSTING!"

Most of your questions will be answered there. If they're not answered, then ask here.

:^)

 

[lgelb]

I would see a rheumatologist, yes. Some of the differentials that come to mind are myasthenia gravis (MG) and dermatomyositis. Both are on the rheum side of the house, and there are many related possibilities.

Please also make sure that you get/carry/wear MedicAlert jewelry or other identifier to enable connectivity to your records. You don't want an ER starting from scratch. As for exercise, when you are being worked up, it is usually wise not to push yourself past the level of fatigue that would have been normal for you when you were healthy.

I hope that you find an answer soon.

 

[capegirl]

The burning is more a feeling of weakness...like when trying to dry my fair, my shoulder muscles fatigue quickly and get that burning feeling like when you are at the gym and trying to lift too much weight. Then I have to take a break. I'll get that walking up the stairs too. One flight of stairs feels like I was on the stairmaster for an hour. I really want to try and go for a jog or run, even if I only make it for 2 minutes, but I'm kinda scared about it. I don't know if that would be damaging or helping.

Last doc I saw was a neuromuscular/MND specialist. I just got the exam notes back and some of the things are kind of alarming. Abnormal eye/lip closure weakness, tongue atrophy/possible fasciculations, eye overshoot and nystagmus, spastic catch in arms, weakness in deltiods and fingers, left hand atrophy, bilateral Hoffman, brisk reflexes, and brisk jaw jerk.

I guess at this point I'll just have to be patient and wait. It is a little scary because I've noticed a pretty quick progression over the past month and I really don't know how I'm going to be able to continue working for another 4 months until the follow-up appointment. I worry about living on my own too. I'm a pretty tough cookie, but this is starting to wear me down, hence why I came here. Thanks for the feedback. I really wish there was some support group or place to go for the undiagnosed. This is a lonely spot.

 

[skipper66]

It is pretty clear to me that you didn't read the stickies. If you had ALS for close to 2 years you most likely would not be able to work. I know there are exception that's why I put most likely. I think you should check with other doctors about your concerns. We aren't doctors and don't get paid the big bucks to diagnos people.
I can't believe you even think we can help when qualified specialists don't know what is wrong with you?

 

[capegirl]

I apologize, I wasn't looking for a DX. Merely looking for some advice from people that may have been through a similar experience. I would have thought there were others who also had challenges reaching a DX, or waiting for one, that maybe had some insight they could share. I did read through the stickies and something I have read over and over is that ALS is an extremely variable/individual disease, strikes no one person the same and everyone progresses at diff rates with diff symptoms.

Thank you for the helpful advice regarding rhumy and MedicAlert. Going forward I will look elsewhere for support or maybe even start my own support group for people in the undiagnosed category. I sort of feel like you're guilty until proven innocent on here. I understand there are a lot of anxiety whacks, but still.

 

[Clearwater AL]

Capegirl, according to the second paragraph in your reply at 9:49 AM it appears something is going on that you will have to find the patience to endure the diagnostic journey.

Remember this a Forum... replies may come from those with ALS, PLS, those who have other MNDs, CALS (immediate care givers to those who do) and those who don't but may be just relatives or friends.

Your original post was rather lengthy which is sometimes difficult for some of the very knowledgeable members ( those with ALS/MNDs ) to follow. Maybe in your following posts you might try and keep it brief and mostly to that concerning your diagnoses.

Again, be patient. No... it isn't easy. For example it takes 3 to 5 years to meet the criteria for a diagnosis of PLS.

 

[MommaTeresa]

Going forward I will look elsewhere for support or maybe even start my own support group for people in the undiagnosed category.

Count me in I'm with ya.

 

[Clearwater AL]

MommaTeresa, in the replies to your original Thread I fail to see where you would reply as such to Capegirl. Often new members (posters) begin to post to Threads where it's really not time for them to post yet. Yes, there is a drift to this Forum. All (most) Forums have a drift that is created from Senior Members.

But, if you wish to help Capegirl start a new Forum... have at it. It's been tried before.

Good luck.

 

[monster]

Hello capegirl
Since you asked about others going through similar experience, I thought I would reply.

I am still undiagnosed. I've been having symptoms since 2006. In 2011 I was sent to a Als neuromuscular specialists. I've had 3 yearly emg's since then, by 2 different Als specialist. The first two Emg's found some fasc but deemed normal, last EMG (2013) was said to be completely normal.

I have, very slowly, been showing atrophy. I also have hyperreflexia, Jaw jerk (on/off), bilateral hoffman (which disappeared in 2014, weird)........popping/cracking of joints and dents looking like cellulite.....
You can read my prior threads for more details.

I rarely post here but can relate to your post. I hope you will stay for support while the doctors try to figure out your problems. I'm sorry you are going through this.

 

[lurker]

Capegirl,

The eye involvement points away from ALS. There are other disorders that have prominent oculomotor abnormalities associated with the other symptoms your are experiencing. These include late-onset Tay-Sachs disease (hexosaminidase A deficiency), the Guamian syndrome, spinocerebellar ataxia type 3 (SCA3), and multiple system atrophy.

 

[MommaTeresa]

MommaTeresa, in the replies to your original Thread I fail to see where you would reply as such to Capegirl. Often new members (posters) begin to post to Threads where it's really not time for them to post yet. Yes, there is a drift to this Forum. All (most) Forums have a drift that is created from Senior Members.

But, if you wish to help Capegirl start a new Forum... have at it. It's been tried before.

Good luck.

Clearwater AL: BAM! You got me...I posted my response and immediately thought "dang, that is going to be taken the wrong way." I merely meant that yeah, it's lonely in the world of the undiagnosed and it would actually be great to go back and forth with others who are struggling with these symptoms/diagnostic tests/uncertainty. That is all, which is why I quoted the part that I did.

I have NO intention of tackling a new forum! I like the "drift" here.

I think maybe here is a good place for those who are actually BEING SEEN BY A NEUROLOGIST and in the diagnostic process to go back and forth? Is that what you mean by some posters posting "where it's really not time"?

I personally find the senior members on here and their responses to be right up my alley, which is why I've felt free to post on here.

And Capegirl...I can relate so much to what you are going through. If you need to vent, bring it on. Wish I could help.

Peace, ya'll!

 

[Nikki J]

I do think an undiagnosed forum might be a really great idea. I know there are others who mostly lurk here who seem to have genuine neurological issues that the neuros just can't pin down even after a year or more. Limbo is a horrible place to be I know. If you have the energy to start the forum do let us know when it is up and running. It would be great to be able to refer people there. There is neurotalk but things are pretty scattered there and it might be hard to find the right subforum.