Status
Not open for further replies.

Emanol

Active member
Joined
Apr 3, 2018
Messages
60
Reason
Loved one DX
Diagnosis
09/2017
Country
SP
State
NY
Hello,

I want to share with you our story in full. There are bits and pieces all over the forum, but I wanted to gather everything together. My father received a final diagnosis of MND yesterday.

My father (60) started experiencing symptoms quite a while ago, around the winter of 2016. He noticed clumsiness in his left foot and difficulty turning in bed. Eventually, he also noticed clumsiness and rigidity in his left hand. By the summer of 2017, he had been directed to a neurologist who was convinced it was a more lenient disease: Parkinson.

Medication for Parkinson did little to improve his condition. My dad started to feel more rigidity, although he experienced no problems with speech and no weakness per se (also no muscle wasting or fasciculations). The medication for Parkinson made him really dizzy and he had a major fall where he broke his leg in August 2017.

After being immobile for a while, his condition worsened. He was much much more rigid on his left side, with difficulty performing some daily chores. He began using a cane all the time except at home to do minor walks.

The did a EMG and it was clean November 2017, which gave us hope. Then they ordered genetic testing which took a while to arrive. Another independent neurologist we consulted thought that the symptoms did not fit ALS and ventured rather a diagnosis of an atypical Parkinsonism, likely Multi-Systems Atrophy. However, imagining discarded any type of Parkinsonism. They repeated an EMG in May 2018: still clean. In the meantime, several tests confirmed that my dad’s breathing capacity was still normal. His speech and breathing remain completely unaffected at this point (last week’s test for pulmonary function showed that it was still 100%).

Yesterday on a medical inspection the neurologist ordered another EMG but started proscribing riluzole already and said that she was ready to change the diagnosis to MND with conviction. According to my dad she never said ALS, so I guess that means it might be PLS, especially since my father has experienced no weakness or fasciculations but rather an extreme spasticity, and so far all EMGs have been clean. We are quite shocked by this. Our journey was extremely long (two years) and there has never been a tangible proof to give us reassurance since all we get from tests are negative results.

I would be interested in knowing about other people’s experiences. We know that ALS is a rare disease that affects everyone differently, but for some reasons, our case seems to me quite strange, especially because long after the first symptoms and with a major fall, still neurologists were confused and pointing to very different possibilities. After these two years, my dad is still largely functional, driving and walking with assistance and running his errands. I was not present with my dad when he went to the neurologist this last time but I wonder if I should interpret this diagnosis as ALS, or rather as “general MND” awaiting confirmation.

Thank you very much for listening. I appreciate hearing from your experiences. I am very glad that this forum exists and that so many of you devote so much of your time to make it work.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
7,629
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
Hi. Sorry to hear this

PLS is indeed an MND and much of what you say fits with that. People with PLS have abnormal exams with upper motor neuron findings. Spasticity is UMN. The lack of weakness and normal EMGs also fit with this

Riluzole is not generally given for PLS though if you believe that PLS - ALS is a continuum I do not understand this. Riluzole helps mostly in the early stage like your dad would be on a continuum and late stages

In the UK although they call both MND the neurologists will usually say to the patient it is what would be ALS in the states ( or PLS)

Ask the neuro. We do have a PLS subforum you may want to browse

ETA i see your dad already had a PLS diagnosis. Was this a different neuro?
 

Emanol

Active member
Joined
Apr 3, 2018
Messages
60
Reason
Loved one DX
Diagnosis
09/2017
Country
SP
State
NY
Hi. Sorry to hear this

PLS is indeed an MND and much of what you say fits with that. People with PLS have abnormal exams with upper motor neuron findings. Spasticity is UMN. The lack of weakness and normal EMGs also fit with this

Riluzole is not generally given for PLS though if you believe that PLS - ALS is a continuum I do not understand this. Riluzole helps mostly in the early stage like your dad would be on a continuum and late stages

In the UK although they call both MND the neurologists will usually say to the patient it is what would be ALS in the states ( or PLS)

Ask the neuro. We do have a PLS subforum you may want to browse

ETA i see your dad already had a PLS diagnosis. Was this a different neuro?
I have probably expressed myself incorrectly in the past. I had an unofficial PLS "diagnosis" from the same neuro, but was waiting because of the traditional 3 years rule. What is new is that in this new visit she changed the official diagnosis to MND and gave him Riuzole. Since I did not go with him this time to the doctor (I went last time), I did not have a chance to ask. But my dad said that she only said MND (not ALS).

Thank you for your response
 
Status
Not open for further replies.
Top