Cannot wrap my head around this..

[AliB]

Hello, first and foremost I'm not looking for a diagnosis. Maybe just some positivity!

I am a 30 year old female who was living a very healthy, active, meaningful life. The kind of life where I have 2 beautiful children, a wonderful husband, am a former mail carrier (haven't been able to work since the 8th of February) and had a hobby farm to maintain! ((*Busy busy"))

It all started 6 months ago- but instead of going into the full story I'll just tell you that within the past 2 months I have progressed significantly.

At first my doctor thought it was B12 deficiency (I have a history of that) but was also concerned about possibly thyroid issue. Labs came back low vitamin d, slightly low B12 but my thyroid was great. She had me on weekly b12 injections for 6 weeks. However with my levels where they're supposed to be I was getting worse? My speech was slurring and my voice more hoarse, along with the fatigue- I also started noticing my legs weren't moving right?

Referral to neurology- where she did notice I had slurred speech, my voice coming and going (different pitches but mainly always hoarse), hyper reflexes, inability to stand on toes and heels properly, poor gait. She ordered a ton of labs, MRI's w and w/o contrast, EEG, chest x-ray (breathing issues while talking), and a speech consult.

I went back to see her 3 weeks later to go over results. Much to her surprise my voice was very weak, now constant nasal speech, my gait is even worse, (I have to use a walker when outside of my home now.) She called in another neurologist to examine me because of her clinical findings?

I found out after this appointment all of my tests were normal and negative for what she presumed we were dealing with. Except for speech. Speech therapy noted tongue weakness, tongue fasiculations, and throat muscle weakness (hence the choking episodes). By this time I was feeling and seeing muscle twitching in my thighs and glutes. Both neurologists agreed I needed to be seen at the Mayo clinic.

I just met with neurology from the Mayo clinic last week Tuesday. He noted:
Hyper reflexes
Weak neck flexor
Weak proximal muscles
Weak thigh muscle
Absent plantar reflex (no clue what that even means)
Myopathic gait
Weak tongue
Flaccid speech
Hypernasal speech

After reviewing all of my records, his clinical findings, and listening to my story he asked if anyone in my family has or had Lou Gehrig's disease, or any MD? Nobody ever has... He suspects a lower motor neuron disease, ordered even more labs (even repeats), an EMG/NCS, chest x-ray, and another speech consult.

So far everything is negative and normal (I'm not sure about the EMG/NCS.) I have to go back to Minnesota this week for my speech tests. Then I go back again the 10th to go over my results.

I'm just trying to stay positive. ((There's so much more to my story that I've left out)).. but this was an entirely TOO long of a post.

 

[lgelb]

Hi Ali,

If you post the EMG results (which of course are yours by right as part of your record, and we advise everyone to keep everything together; see the "getting a diagnosis" sticky), we could be more helpful.

Since you are using a walker, note our #1 recommendation: be safe so you don't fall.

There are a number of possibilities on the table as yet, so as you note, there is no point in speculating. As the positive points, you should know more soon and it sounds like you have a strong support system.

Keep us posted!

Best,
Laurie

 

[Clearwater AL]

AIIB, there is disease that mimics ALS, difficult to diagnose, involving numerous tests and fits so many symptoms. It can actually create a form of atrophy. Again, fits so many symptoms of ALS and what you have posted.

It also defies and confuses EMGs.

There's not even a sub-Forum here for it.

It's called Spinal Muscular Atrophy... SMA. At your age it would be called "Type 4".

Fortunately it is not a Terminal Diagnosis Disease and there are great advances in it's treatment.

Something you might discuss with your Neurologists.

Nikki, is very knowledgeable and might have some input to this topic.

 

[AliB]

Thank you Laurie for your input! I have every test result in my patient portal besides my EMG/NCS. When I go to the Mayo clinic this week I will check into my records!


Clearwater Al - I appreciate your insight. Believe me, I will most certainly bring SMA up to both of my neurologists. I've been tested for 4 months with zero results and just continue to progress (and not for the better.)

Again, I thank you both! I will update when I know more.