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You are NOT going to believe this! HUGE medical update

BlsdMama

By BlsdMama,
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BlsdMama

BlsdMama

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Got a phone call from Mayo yesterday.   

 

Back information: Diagnosed with Motor Neuron Disease April/May - specifically PLS.  High chance (90%) of turning into ALS.  Moved into ALS Clinic for observation and support.

June - requested a second opinion at Mayo.

 

July - seen at Mayo.  Mayo concurs, this is MND.  They offer me to be moved into their ALS Clinic but I didn't want the drive.  I like my closer one just fine.

 

August - appointments, a lot of them - fitted for leg brace, began baclofen for spasms/rigidity, offered a grant for $500 from the Ice Bucket Challenge for MND/ALS patients to begin home modificiations.  Had an assessment of our house to let us know what to consider - i.e., ramps, door widening, bathroom alterations. 

 

Yesterday?  Phone call from my neuro at Mayo.  An obscure little long shot test turned up POSITIVE.

It was for a glycine receptor antibody.

 

This might just be all auto-immune.  

 

 

It's a longshot and not well known - the antibody was discovered around 2008 it appears.  They had looked at me for Stiff Person Syndrome (GAD 65 panel) and it was negative.  We had done a startle test and it came back in the realm of a normal response.  This test wasn't expected to be positive and I definitely fit PLS better than PERM.  I am having some cognitive affect but not like PERM - no hallucinations, paranoia, wide mood swings, etc.

 

I begin IVIG (immunoglobulin infusions) soon.  It's a 12 week trial to see if we see any symptoms drawback.  I need to take videos of my walk, foot tapping, balance, etc.

 

I was crying so hard when I called DH yesterday he thought my Grandpa had passed or something else dreadful.  I scared him pretty good.

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displace

displace

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Wow!  Does this mean the treatment can work to halt progression?  Will there be progression or stabilitzation?  Is the prognosis better?

 

From your reaction it sounds like a much better diagnosis!

 

ETA - I'd reconsider keeping f/u at Mayo.  If this disease is so rare that nobody sees it, Mayo will likely at least be able to consult with someone who has treated it before.

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wapiti

wapiti

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Fascinating.  It just so happens that some brands of IVIg are stabilized with glycine (vs others with sorbitol or something), and I have seen people wonder out loud on the internet whether the glycine was especially helpful for that particular person or problematic for others.  (There is also an OTC supplement though my understanding is that would involve large quantities of the size where you'd want a doc's input.)

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Guest

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Wow. Just goes to show why it is called the PRACTICE of medicine. There's just so much we don't know! It's definitely not an exact science. Not yet, anyway.

 

So happy for you!

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BlsdMama

BlsdMama

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Wow!  Does this mean the treatment can work to halt progression?  Will there be progression or stabilitzation?  Is the prognosis better?

 

From your reaction it sounds like a much better diagnosis!

 

ETA - I'd reconsider keeping f/u at Mayo.  If this disease is so rare that nobody sees it, Mayo will likely at least be able to consult with someone who has treated it before.

So, in theory, it will not only be stabilization!  Seriously.  I can't wrap my head around it.  In theory if it works it will stop the progression but, eventually, also give me back that leg, my balance, the twitching stop.  

 

Is the prognosis better? Um, yes and no.  If it works, the progression is so much better. IF I understand correctly it will essentially put it to remission. It's an autoimmune disease so the IVIG may be something I need all my life, like monthly, or possibly not until symptoms restart, if they restart.   The no part comes in if it doesn't work.  If it doesn't work, it looks like this is closely related to something called PERM.  Played out to the end with no remission, I'd be looking at upper and motor neuron failure with a dementia piece - like hallucinations, paranoia, wide mood swings, etc.  However, the study done at Mayo with treatment was really encouraging.  It's a pretty recent study too.  I'm sticking with the encouraging stuff until at least 2018. ;)

 

 

 

 

Whoa! So this is wonderful news, right?? Am i reading that correctly?

 

This is beyond wonderful news.  I'm still excited.  Every. Single. Minute.

 

 

 

 

Wow... how amazing.  So the therapy will reverse some of your symptoms?  I guess you're figuring that all out.  

 

So they tell me if it works, it really should.  Unbelievable.

 

 

 

I must have missed something...what happened to it being Lyme disease?

 

This is where it gets tricky. I definitely have Lyme disease.  I also definitely have an Upper Motor Neuron dominant fail issue going on.  When they don't know what causes that it goes under PLS - Primary Lateral Sclerosis which is just code for Motor Neuron Disease but we aren't sure you'll lose the lower motor neurons and die, so right now we'll just tell you the uppers are going and you're going to be paralyzed within some time frame that spans 3-20 years.  No treatment.

 

So, the theory goes that Lyme can make that first domino fall - the beginning death of upper motor neuron disease.  Lyme is so insidious we just don't know what it can all cause.  It definitely causes auto-immune issues.  So are we saying the people that have both ALS and Lyme that the Lyme caused it? Or is it separate? Or did the Lyme attack just the right area of the brain/spine?  No one really has the answers.  But then if you play that out, do we say that some people have a gene (like c9orf72) where if they are exposed to the right bacteria or environmental trigger that Motor Neuron Disease flips on?  Or that their body then begins attacking itself?  The discovery of this antibody causing a disease that is related to Stiff Person Syndrome only happened in 2008.  That's pretty young information.

 

So, in my mind, I can't help but wonder did Lyme cause a messed up auto immune response that caused me to create an antibody that ended up attacking ME  and thus caused Motor Neuron Disease?  You see? It's all so circular that without studies and reliable tests (which Lyme doesn't have) I don't know how researchers sort through the crazy.  I have faith they will but it is a ways off?

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creekland

creekland

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So, in theory, it will not only be stabilization!  Seriously.  I can't wrap my head around it.  In theory if it works it will stop the progression but, eventually, also give me back that leg, my balance, the twitching stop.  

 

Is the prognosis better? Um, yes and no.  If it works, the progression is so much better. IF I understand correctly it will essentially put it to remission. It's an autoimmune disease so the IVIG may be something I need all my life, like monthly, or possibly not until symptoms restart, if they restart.   

 

Well, here's one Boardie who is definitely praying it works!!!  May you be another statistic in their med school books/journals showing others in the future what to do when these sorts of things pop up.

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kbutton

kbutton

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As genetics matures and they link it to what's going on at a molecular level in the body, all kinds of things are becoming possible. My son has a genetic disorder that has been identified for a long time, but it's always been a judgment call on many levels. Now, they not only have much more specific genetics, they have mouse models and all kinds of data they use to figure out what is working, what seems to be working but may not be, what makes things worse, etc. It turned some theories into reality, and clarified that some theories were like a dead clock--right twice a day, and if you looked at that moment, things looked great. Research can be clarified on a whole new level. 

 

I am so glad you have a positive avenue of therapy to pursue!!! What a discovery! I hope research continues to become more and more clear (and hopeful!!!), and that you respond ideally to treatment. 

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BlsdMama

BlsdMama

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Yes, there is so much we don't know about medicine.  I went for years with differing diagnosis.  Now it seems that all of them were correct in part because I have overlap syndrome- RA, Lupus, Sjogren's.  I am prayng that this treatment works for you.

 

 

Christina,

 

It is so (SO) odd that you have this trifecta.  I have a very beloved friend who has the same three diagnoses. They *just* decided she has Ehlers Danlos.  They are doing chemo.  Ugh. Autoimmune is ugly.

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