frustrated and confused can anyone help?

[melb]

i am a 31 year female who is supposed to be enjoying her young family but 7 months ago after the birth of my son i noticed pain in my left forearm which was shooting up to my fingers and within a couple of weeks i could not extend my fingers properly and had wrist drop. i went to my GP and she thought i had damaged my ulner nerve and sent me to neurologist for a nerve conduction study. Long story short the conduction study came back normal and i was sent for an xray and ultrsound on the arm and ulner nerve all came back normal. This was the point alarm bells started ringing and i was sent for MRI on my brain, spinal cord, and left arm, once again all came back normal. The neurologist said to leave it a couple of months to see if the would improve on its own. I thought nothing of it and planned to see him in couple of months. During this time i noticed that i was becoming fatigued, and my muscles would ache just doing normal day to day things. My left hand and forearm got worse with strength and muscle tone. On my next visit to the neurologist he took one look at me and began another clinical exam from head to toe it was at that point he informed me that my left leg was weaker then the right and i had hyperflexia in the legs and twitching in the upper left arm. He sent me for anothe batch of MRI scan to eliminate MS and to check if he had missed anything all came back normal once again. At this point i was sent to another neurologist who specialises in motor neurone disease. he conducted an EMG test and found weakness in the left arm but without a conduction block and said the right side was not 100%, i had also had all the bloods taken and come back normal. neurologist said that he had to do some work on my results and would send them to my refering neurologist. To cut an even loger story short on my return to the neurologist he gave me the news that i motor neurone disease instead of multifocal motor neuropathy because i had no conduction block and my bloods were negative. Since then i have been getting twitching all over my body not all the time and my muscles fatigue and ache if hold the baby or doing alot on my feet, i just want to sleep all the time and my balance seems to be getting worse. This is where it gets confusing for me the MND neurologist contacted me and suggested starting a course of IVIG just in case it might be MMN i have undergone a treatment everyday for week (this was 2 weeks before christmas) i have not noticed any difference or any worse progression and have been told it may take 6months of treatment before i notice a difference and so i ahve therefore agreeded to 1 treatment every month. Is it normal for MMN to have no conduction block and negative bloods for the GM1 antibodies and everything else they could possibly test?. Feel like my life is in limbo. has any one experienced this or could offer some input on their personal experience then i would love to hear from you.

thanks
mel

 

[Kitchener]

Hi Melb

I very much sympathise with your predicament. I have been through something very similar over the past 10 months. Last March I was diagnosed with MND by a specialist neuro after clinical exam, EMG and MRI, which was devastating. I am early 40's with 2 young kids. I was referred for a second opinion to an even more specialist neuro who didn't rule out MND but also said it might be MMN. I had further blood tests and a lumbar puncture as well as an in depth EMG to investigate conduction block. The EMG could not determine a conduction block, the blood tests did not show an elevated GM1 titer and the lumbar fluid was normal. Nevertheless due to my clinical presentation the second neuro has persevered with the MMN diagnosis and I have been on fortnightly IVIg infusions from last May. I am fit, healthy, active and the only disability I have so far suffered is weakness and atrophy in my right hand. I have all-over body fasciculations but I have been told to ignore these in the absence of weakness. Lately my neuro has been wondering whether it is not actually MMN but something called late onset spinal muscular atrophy, which is a genetically inherited condition affecting motor neurons, but not what we commonly understand as MND. So off to the pathology collection centre again and I'll find out in 6 weeks or so whether it's that or not, and if not the search continues. Hopefully that sets the scene; in relation to your question I'll make the following comments based on the experiences I have had this past year:

Neurological conditions can often be extremely difficult to pin down, even for experienced specialists. My neuro has said repeatedly that I don't fit into any well defined box (and I suspect neither do you)

Your neuro is clearly very uncertain about the initial MND diagnosis. I say this because IVIg is an extremely expensive treatment and while you don't pay directly, the prescribing physician needs to be circumspect in doling the stuff out as they can be audited by Medicare and/or the Red Cross

The efficacy of IVIg can be variable depending on the patient - give it time. The actual standard the physician will use is that it arrests any further deterioration, rather than necessarily improving the condition (although hopefully it will do that in time)

Unfortunately if you don't fit into a neat box, then it is only time that will reveal the answer. I have persisted with the IVIg as I believe I am getting a benefit, but if at any point I start to deteriorate it will be clear that I am either no longer responsive to the treatment or I have something else altogether (could even be the initial MND diagnosis is correct, although I now doubt it)

Stay strong, keep a positive attitude and remember that MND is very rare and that there are a limited pool of neurologists in Australia. I don't mean to be derogatory, but neurology is a very wide speciality, and the available pool of neurso to specialise right down to the MND/ALS level is small, and they have to cover so many other conditions (MS, stroke, trauma etc etc). You need to be patient, stay healthy and take each day as it comes.

I hope this helps

Kitchener

 

[brenda barton]

Hi Mel, Kitchener and all

My neuro has not given me adefinite ALS diagnosis yet either. I dont fit exactly into a box either and its frustrating. He sent me for a 2nd opinion & the Vancouver clinic said the same, ALS but why only one arm where the muscles are dying. I am on baclofen for a muscle relaxer and botox for the pain. Tests have ruled many diseases but he is still looking at other possibilities. He has confirmed PBP as I have occasional fits of laughter or crying jags.

Good luck to all us in getting answera.