On year 5 of DX!

[Michael2165]

I meant to say UN diagnosed ...sorry

 

[Michael2165]

Might be lengthy thanks for reading additional info.

In 2012 I lost my balance and saw a Neuro. Brain MRI showed many white matter lesions and MS was suspected.
Spinal tap neg.
Cervical MRI (because I had a 2 level ACDF in 2007) Negative.
Went to physical therapy on my own to fix my gait. PT noticed my muscles would not relax and said see your Neuro now.
Neuro found foot drop.
Knee MRI neg
Lumbar MRI neg.
Foot Drop healed in months
Bloodwork for Lyme, Lupus Stiff-man neg
CT scan neg.
Psychogenic was pushed. And stiffness continued.
First EMG I was told I have an upper motor lesion. Hyperreflexive, no babinski.
Weakness set in after. More like the more i used my muscles the weaker they got.

Finally Jan 2015 I was put on private disability from my companies ins. I have not worked since. This was all in the Seattle area. They had no answers for me. The cold weather and limited income made me move to Florida close to a university provider, USF.

Got here and was diagnosed with Myasthenia gravis...negative ghost rider.

Then I was contacted by Aetna to seek an outside opinion from a company called Ground Rounds. They collected every record from 2012 to June 2016. 200 plus pages of Dr. visits, blood tests, MRI's. Their professional opinion was PLS. Because this was not face to face it would not fly.

Now in FL my first Neuro like i said suspected MG. Then I saw a psychiatrist to rule out psychogenic. She laughed and said of course this is not in your head. I then asked to see the Chair of Neurology at USF after my Ground round DX was sent. I thought he would concur but he did not. He said that my hyperreflex would have been much stronger had I had PLS. I was on Baclofen.

He sent me for a genetic test because he thought it was Myotonia. My genetic test came back that I had a genetic mutation of HSPG2 gene, a carrier. that was symptomatic.

Knowing that Grand Rounds thought it was PLS I requested a visit to the ALS dept. to CONFIRM that I do not have a MND. When I visited the ALS doc (and high on xanax I was so nervous) He did not confirm ALS was off the table.

So here I am. Almost everything has been checked off. 3 brain MRI's, 2 cervical, one Thoracic, one knee, one lumbar endless amounts of blood. And 200+ pages of records over 5 years.

Currently on Baclofen only for spasms and stiffness and xanax for occasional anxiety .

I was prescribed a power wheelchair bc I can only walk short distance.

Thanks again for reading. I pray for all that are in this horrible club I do not want to join. Stay strong. No matter what we are dealt, we got this. Whatever i have they have all told me it cannot be reversed. Much love!

 

[ShiftKicker]

Has there been further inquiry/follow up about the HSPG2 gene that showed up on your test? Did the specialist indicate what that might mean for a diagnosis? Just plugging "HSPG2 gene" into the Google brings up quite a few hits with how it can affect a person's health. Have you been referred to a neurogeneticist?

I wish you the best of luck tracking down a proper diagnosis. 5 years is a long time to search.

 

[Michael2165]

I met with a gene doc. Thank god I had no children HSPG2 with both parents as a carrier leads to Schwartz Jampel Super duper rare. I am just a carrier. Stiffness is a Myotonic condition but does not include progressive weakness.

April 18 2015 I was able to run in place for 40 steps until I would shut down. Now, today I can do standing 4 knee lifts until I freeze. Muscles will not work.

 

[Atsugi]

Hi, Michael. I've read your posts again and of course we're all flummoxed with no idea what's going on. That leads me to say this: You've got access to the best doctors and you can travel, I think, to see any world-class clinics you like. So there is really nothing we non-medical muggles can do here in Internet-land. By all means, you are welcome to post your updates--they are very interesting--but I wouldn't expect any help from us in diagnosing your malady; we're just not qualified.

I feel for you, man, as I gained a ton of weight and found my fitness suffered horribly recently. I don't think you're headed to ALS-land, because, quite frankly, you've already outlived most people with ALS.

 

[Michael2165]

Hi, Michael. I've read your posts again and of course we're all flummoxed with no idea what's going on. That leads me to say this: You've got access to the best doctors and you can travel, I think, to see any world-class clinics you like. So there is really nothing we non-medical muggles can do here in Internet-land. By all means, you are welcome to post your updates--they are very interesting--but I wouldn't expect any help from us in diagnosing your malady; we're just not qualified.

I feel for you, man, as I gained a ton of weight and found my fitness suffered horribly recently. I don't think you're headed to ALS-land, because, quite frankly, you've already outlived most people with ALS.

I agree. I don't have the money to travel and yes at year 5 I have outlived many PALS. I will put this all on hold until I get the results of my biopsy. I WILL NOT worry myself anymore. Thanks friend