Getting Concerned

[justolemom]

HI - hoping I might get some guidance here. I started to have foot slap symptoms in January - went to my GP who did a full blood screen - all normal. She sent me to a neurologist who ordered MRI of lumbar spin - no unusual findings. thoracic spine same. Did an EMG of my left leg which showed left sided peroneal neuropathy in the region of the fibular neck with early re-innervation changes noted on needle testing. started PT 2x a week - no improvment with drop foot. No firing of nerve felt in the foot. Back to neuro and did MRI of neck and brain - normal age related findings and EMG of upper bilateral study because I somethime have numb fingers when I wake up - goes away in 2 minuted. EMG found mild bilateral sensory demyelinating median nerve neuropathy at wrists - carpel tunnell and right motot demyelinating ulnar nerve neuropathy at elbow, consistent with mild cubital tunnel syndrome. I have had contstant muscle twitching in thigh of the left leg(with drop foot) that has moved down to lower leg - no pain. The most concerning to me is that the foot drop has not imporved bot gotten worse - walking more difficult, climbing stairs the left leg is very heavy - 2 falls. I dont have any pain anywhere. Last Neuro visit she gave me refereal to Neuromuscual Specialist. Does this sound like the begining of ALS? When neuro went back to look at emg results she said nothing pointed towards ALS -at the time of test. I should note that I didn't have any muscle twitching at that time - don't know if that matters.
Anyway - thanks for any information. Im very scared.

 

[justolemom]

I am a 50 year old female - thought I should mention that too.

 

[lgelb]

You have not described any findings suggestive of ALS. If the sacral spine was not imaged previously, I would expect that it would be.

Best,
Laurie

 

[Vincent]

Demyelination sounds more like MS to me. And drop foot is common in MS. Nothing you described sounds like ALS. Good luck working with your neurologist. It can be a long time figuring what is going on.
Vincent

 

[justolemom]

My appointment today did not go well. Neuron did meg again- spent a lot more time with the needle parr and also did left arm neck and upper back. He told me and my husband that this meg showed a lot of denervstion and with that and his exam showing weakness that I had ALS. He prescribed riluzole, b121000 MG and vitamin d 2000 MG.. everything else he said went over my head when he talked about my kids possibly having a specific gene. Now I'm sitting on train on my way home- I'm freaking out. What happens next- I mean other than following up with the clinic in2 months and getting foot brace. How do you tell your family and we'll just keep doing. Kemal things with our falling apart

 

[Nikki J]

I am very sorry.

If you understood the neuro correctly I am confused as to why he raised FALS at this point if you are 50 with no prior family history.

90 precent of ALS is so called sporadic without a clear genetic cause. The other ten percent ( of which I am one) mostly know perfectly well they have ALS in the family and have multiple close relatives affected. I raise your age because very young PALS are often advised genetic testing because it is more likely to be FALS then.

For the rest take a deep breath, don't make any big decisions yet and take your time telling people. Do also pursue a second opinion at an ALS clinic

 

[justolemom]

This was at ALS clinic Mount Sinia in NYC - Dr Scelesai. Is it a good idea to get a second opiton from another ALS clinic? I know that there is also one in Stony Brook that he told us about. This might sound like a stupid question - but, what is FALS?

 

[Nikki J]

I would get a second opinion no matter who was the first. It is pretty standard. Not saying you are misdiagnosed but you really want to have two experts agree on such a devastating diagnosis

FALS is familial ALS and is generally used to refer to those of us whose illness is clearly genetic. I am FALS and my genetic defect is c9 orf72. My mother, all but one of her siblings and my sister have died from this. This pattern is not unusual in FALS. It sounded lke he was telling you yours was genetic too. While the current belief is most - maybe all- ALS patients may have some genetic susceptibility it is not true that the children of so called SALS have much more risk of getting ALS than anyone else. My risk of inheriting the genetic defect was 50/50 and having inherited it my risk of ALS was very high. Maybe I misunderstood you? Or you misunderstood him? Or did you already have genetic testing ( you would know if you did. You have to sign for it and you should have been counseled)

 

[KimT]

If I were you, I would go to Mass General for a second opinion. I got three opinions (Mayo, Hopkins, and University of Florida.) I flew to Hopkins.

Hopkins did do some genetic testing on me and I think it was because autoimmune diseases run in my family and there has been a question of my having two things at once.

When you get a second opinion, make sure you take all your records. They will usually do their own EMG and clinical exam plus whatever else they think needs retesting or if anything is missing.

 

[justolemom]

thank you. i will look to schedule an appointment for a second opinion and get a copy of the last EMG to bring. i have 2 weird questions -and everyone here seems so helpful and knowledgable. My husband and I are in Napa valley on a anniversary trip that was planned long before walking was such an issue. I have been limping along and trying to stay present - we will deal with new appointments and talking to our kids when we are home. This is like playing pretend right now - but anyway,my question. Hot Mud Bath - is that ok for someone with ALS, should I be worried about the tempertarue?? Massage - is this ok, even to massage the damaged part of my body? I know they are odd questions but if anyone has an answer I would appreciate it. Thanks

 

[Nikki J]

Some of us find extreme temperatures bothersome to our symptoms ( I am cold sensitive, others are heat sensitive) but I do not think the hot mud bath would hurt you. If it is uncomfortable you can always stop.

Massage should be fine as well Many find it soothing and enjoyable. Don't let them stretch a damaged area though as your muscle may not be able to protect you Tell them to be gentle there as well

Enjoy your trip.