Sigh.

[BlsdMama]

Are they thinking ALS?

I presented with foot drop. Not a big deal.
She noticed hyper reflexes right side and clonus in the right foot.

Did MRIs - assumed MS. Saw some white spots but said no MS. Did an EMG. EMG was clean.

I asked for a second opinion at a teaching hospital.

She sent me up there. They disagreed about the MRI, felt it was MS. Did more tests. Nope, confirmed, no MS.

Lyme - tested CSF and Blood - saying no to Lyme.

Last week DH and I noticed my calf was flatter and indents where it should bulge.

All along things have been getting progressively worse. I have been prescribed valium and vicodin for rib discomfort/pain. It isn't pain so much as they just wear out from sitting up sometimes. But I'm not having problems breathing.

Balance is an issue. It isn't awesome. Not terrible yet, but not awesome.

I am driving with two feet now - the one doesn't reliably switch to the brake.

I can't tap my right foot anymore.

I can stand on toes but the right leg can't do heels anymore. (That's new.)

And the twitching. It started AFTER the EMG. It was just the right leg and not terribly often. Now, it's often. And the left leg. And the right arm. And my lower abdomen. And it happens about every 2-5 minutes somewhere on my body.

I popped in to the neuro yesterday. Thought maybe DH and I were just worried and paranoid. Asked a nurse to take a look at the muscle to see if I should move up my appointment. She called in the doc. He's new to me, mine retired and I got moved to him. Seemed like a very nice guy. They moved up my next appointment to a week from Monday because he is out next week and confirmed it looks like I'm losing muscle but he said he doesn't think it is ALS. I am a pretty young woman at forty and in pretty darn good health. Retired doc tells me now both legs are "quite brisk."

I am not tired like MS. I think they will repeat the EMG - he asked if it was done there. (It wasn't, it was done with a private neuro not at the teaching hospital.)

Thoughts?

 

[Atsugi]

Don't know what to think. Seems local to the right leg and not ALS. Clean EMG should mean no ALS. Exceptions to everything, but I still am not thinking ALS.

Eleven kids! Perhaps right leg is simply worn out from kicking behinds when they misbehave?

Stay in touch.

 

[lgelb]

Valium and Vicodin aren't doing your balance or foot-tapping any good, that's for sure. I would taper down and see where that gets you. MS isn't always tiring and I don't know how well they ruled it out. But there are many other possibilities. A clean EMG is always reassuring in re ALS. Keep the diagnostic process moving forward and I am sure you will have better answers soon. Was the MRI of brain only or spine as well?

Best,
Laurie

 

[BlsdMama]

I'm not actually taking any of the prescriptions - that was sarcasm. Sorry. They gave them to me but since they don't actually *do* much of anything other than distract they are sitting in my medicine chest.

MRI was brain, neck, upper spine, and lower spine. Nothing on the spine at all.

LOL on the kicking behinds. They range in age - so a few of them are independent - one graduating college & getting married, one graduating homeschool and moving to college this fall. The rest don't need too many kicks as they are pretty darn good kids.

I am so sorry all of you have been through the diagnostic process and ALS. I guess this process is bound to teach me patience. I meet with the neuro a week from Monday and see what he says then. A new EMG might just shed a lot of light on this situation.

 

[BlsdMama]

Today's visit wasnt ideal. Said the brain and spine look great. Said its concerning being asymmetrical in a healthy woman. Sais ALS is "in the realm of possibilities." Scheduled another EMG for this Monday.

 

[BlsdMama]

Had an EMG on the 20th. It was normal. The doctor thinks it is potentially PLS - he feels we are on a slow downhill slide.

I don't understand. Normal EMG should *not* precede atrophy right? If I have twitching and I have atrophy in the right leg, I have Babinski present, and I have clonus, the EMG should have been abnormal, yes? This was my second and this one was *far* more thorough than the first. (First was with a local neuro, this one was at a teaching university hospital.)

He wants to wait a couple months and repeat.

I don't understand. He is looking for nothing else but ALS/PLS. I'm forty. The chances have to be pretty far out there and no family history. We really believe this is neurological Lyme. Am I in denial? Misunderstanding?

 

[Gorby]

My symptoms are similar. I have brisk reflexes, Babinski, clonus, twitching, mild atrophy and a clean EMG. Negative for Lyme. I think the issue is the degree of atrophy. With PLS you can get atrophy but it will not be severe like in ALS. As well as keeping the follow-up appointment with this neurologist, I would start looking for someone else for another opinion.

 

[lgelb]

UMND, aka PLS, can be appreciated only in some cases on EMG by some centers. A normal EMG doesn't rule out UMND but more likely rules out ALS because the latter entails lower motor neuron damage, which is pretty hard to miss on an EMG.

 

[BlsdMama]

So, we still think this could be neuro Lyme and hope this is it. Seeing a doctor in MN and waiting on Igenex results.

This is nothing more than an update as we are in the waiting game. Neuro just plans on seeing me until ??? Does anyone have any idea? He seems to think "something" will happen. What is he expecting? He gave me a number outside of his hospital number in case "something" happens. I asked what but he said it is for just in case I needed to get in touch with him. ??

Reflexes were 2+ and went to 3+ and now are at 4+. Seem like the mildest thing bumping that leg near the knee has that unpleasant reflex/jump feeling.

Going up stairs yesterday set off clonus through my entire foot. I have never had anything like that happen and I didn't understand it at first. It was the second time up the stairs that I figured out what was happening.

Can I ask - how long did it take to a clearer picture? We feel like this should be clear by now?
The first visit to the family doc was in the fall - around September, eight months ago.

 

[WendyWooG]

Unfortunately diagnosis takes a long time especially if your symptoms or test results aren't typical. It makes it complicated too if you have mainly upper or lower motor neurone symptoms. From what I have seen on here they do seem to play bit of a Waiting game with PLS as the EMG isn't always clear.

I was LMN dominant had a probable diagnosis 9 months in but didn't get my full diagnosis til 18 months in when the UMN symptoms started to show. My doctors were trying to see if there was a chance it was MMN or PMA. To be honest I think they look at everything really carefully. They don't want there to be any chance of getting it wrong.

Wendy

 

[ShiftKicker]

Mama-

Sometimes a doctor can suspect something, but need to wait till all the little boxes are checked just in case. With some suspected neurological issues, the only way to diagnose is to eliminate all the obvious things it could be and then sit and wait till a new symptom appears or to observe particular symptoms over time to see if they follow a known progression pattern.

In my own search for answers, a neurogeneticist with a terrifying bedside manner, patted me on the leg dring an exam and said while looking at my MRI results "So, it's not a brain tumour. Well, we've eliminated all the things that can be cured, slowed down or arrested. We're getting there!" What is an interesting diagnostic exercise for a doctor is unimaginably stressful for the person presenting atypical or slow moving symptoms.

I feel for you. It's hard to wait. It's hard to prepare and wrap your head around what may or may not come next. Your question about how long it should take is a hard one to answer. It depends on your symptoms. So you are in a position to hope whatever it is is a slow developer, but wish for it to advance quickly enough for a doctor to figure out what it is. It's not a great place to be.

Keep asking questions. Ask the specialists what has been eliminated. Ask them what is still on the table. Let them know you have need to know what is suspected in order to plan ahead. I would recommend seeing a counselor or Psychiatrist to help you deal with the incredible stress you must be under.

best

 

[lgelb]

IGeneX is known to over-diagnose. Please don't go by their results or you could spend years/thousands in treatment that would only make you feel worse.

 

[Lkaibel]

Neurological Lyme as a serious ALS mimic, or a mimic of any real neurological disorder has been pretty well shot down by the Neurologist/Medical community. Lyme CAN cause some pretty interesting symptoms, but it's easily found in a normal blood test you can get at nearly any Doctor. It is usually part of the blood workup when Neuro symptoms are present. Lyme symptoms like weakness and cramping are transient and do not get progressively worse.

Your situation with the normal EMG is a tough one. Best wishes with your diagnostic journey, but please don't get taken in by "Lyme".

 

[BlsdMama]

So this is an interesting debate - truth is the CSF is more reliable than blood in Lyme. I have Lyme in my CSF - they took it when they were doing the lumbar puncture to rule out MS. But the amounts aren't enough for a "true" positive. Interestingly enough, a new OB did a full panel of testing (standard, STDs, etc) four years ago and I got a quantitative result on syphilis. I don't have syphilis (and my DH and I would have bigger issues than Lyme since we've been dating since I was 17, lol) but Lyme and Syphilis can cause a cross result. I had a black legged tick bite in 2007 and didn't do the full course of treatment- back then they weren't recommending 30 days of doxy. (No rash but that isn't unusual.) And there is a lot (LOT) of quackery around Lyme, no doubt about that. But Igenex gives a "positive" (3 bands) and a CDC positive (5+ bands) so it allows for some differentation. I also have white spots on the brain in three areas that my second neuro felt was MS. It's not but that can happen in Lyme. It does not happen (to my knowledge) in ALS.

Oh Lenore, I hear what you are saying and thank you for responding. Truly.
I can't decide if I am being wise by looking closely at neuro Lyme (it's semi-treatable) or incredibly blind just because I want this to not be MND.


He is sure it is one of three things:
HSP
ALS
PLS

He felt we would have the ALS diagnosis after that second EMG but the EMG came back normal and it puzzled him.

Can I ask - I felt that he seemed to think something new would happen soon, hence the additional number. What is he thinking?


And you are right - it is really important that we be able to plan to some degree. Because we homeschool we need to make a plan earlier than later for these babies. We live pretty far from our homeschool classes/group and would need to sell our house and move in, get the younger group acclimated to school before the stress of it all really unloads on them.