My Neuro's NP point person called me back!
 

:) Hi All,
Just an update on my dx'd undx'd situation and that of my new NP as point person in my neuro's office.

She actually called my on last Wednesday afternoon. I didn't have time to post then because I was getting ready to go on vacation the next day. She had gone over my chart with a fine toothed comb and it is now about an inch smaller than before. The NP reviewed everything they had received from the MS specialist and actually didn't agree with many of her findings. We discussed the different brain and spinal diseases that could be in play here just to keep our options open.

The NP is now ordering all of my MRI's and CT Scans on DVD from the hospital so the senior partner can see them for himself. I just learned that I did indeed have lesions according to the radiologist reports. She does not want to leave any stone unturned in this search. Ironically, the neuro and the NP feel that, depending on what the MRI's and CT scan show, that I may indeed have A-Typical MS and or a genetic disorder and I may be the first in my family to show symptoms. A-Typical MS, wouldn't that be a hoot?

Cheri Binns emailed me an article and link to a website for a Dr. Hughes in the UK who has developed and identified the Hughe's Syndrome or "Sticky Blood Syndrome" which can be tested with two to three simple blood tests. The NP researched this and learned that I had never had these tests and had sent me a lab slip to have them tested. He has found that many people with what appears to be MS only have this syndrome and it can be treated with blood thinners like Counadin. Wouldn't that be great? The NP feels I don't really fit the syndrome's profile but the blood test should have been done long ago. We'll see.

All in all, very good information and the NP is really being progressive and aggressive on my case. I love that feeling.

So Google Hughes Syndrome and see what you come up with. Print off the info and give it to your neuro on the next visit and make sure you have had these blood tests done, just to be sure.

Yes! I'm finally in relief mode and going with the flow. Thanks for all of your support and taking the time to read my post.

Oops o :

I read your vacation thread and posted there before I read this one.

Sounds like you have hit the jackpot (in keeping with my lottery mode) with a NP and neuro who are giving you the time and respect you deserve.

Didn't know you had lesions, thought it was just the atrophy.

Guess I'll google Hughes and find out for myself.

Thanks for the info.

welcome back undxcraig. i replied to you on another board regarding what i have been recently dx'd as having. spinocerebellar ataxia. a genetic disease although my parents or grandparents we aren't aware of having. i do have a great aunt and great uncle that had something family called "creeping paraylsis" and both ended up in wheelchairs.

my neuro said i too could just be the first to exhibit symptoms, or have a new mutation not identified yet. since i now have two neuro's stating this is what's wrong, for now I will go with that. nothing either can do but treat symptoms. both stating it is a chronic progressive degenerative neuro disease. oh my PCP agrees too.

just sounds like you and I may have some things in common so wanted to share what i have been told in June this year.

good luck

marfla

And my 30 year old daughter is quite ill and one of the blood tests they did shows a familial clotting disorder similar to "Hughes Syndrome" so now the whole family is having to be tested.

oh wow cherie. i was tested for Hughes Syndrome in 2004 esp since I also have Lupus. Hope your daughter will be ok and that this isn't a family genetic thing.

send her my best thoughts.

gentle hugs to you Cherie

marfla

My sister Jean was diagnosed with Hughes two years ago. Then last year was diagnosed with a massive benign brain tumor. It fills both frontal lobes and part of the right temporal lobe. Symptoms are quite similar to mine with MS.

My neuro said there's a doc at Stanford who is studying autoimmune CNS disorders in families and I should contact him (but I forgot his name!).

I remember you sharing about your sisters brain tumor. It's good to hear someone at least is studying autoimmune CNS disorders as imo many dx/names neuro disorders/diseases now are related in one way or another. plus imo there is more within our 'genes'.

I believe one day someone is going t discover more about our nervous system, find that neuro's disorders just aren't as seperate or distinguishable as they want to make them today.

Also believe one day more will be known about Lupus (i realize more is known now then even 10 years ago). I was dx'd with Lupus many years ago based on labs, and symptoms. even had a few seizures within a few months due to lupus. there is CNS Lupus but all my labs are now negative for Lupus.
so all the neuro's and rheum's i saw in 2004 said I didn't have lupus.

Well my current PCP and both current neuro's don't agree. They each believe I still have lupus, and that could be the cause of some of my neuropathy. and related to other symptoms. so they just added Spinocerebellar ataxia along with Lupus. Again imo one day more will be known of how lupus, CNS, MS, and other neuro issues that seem to attack or destroy the nerves are more related than not.

let me know if you enter that study, sounds interesting and hopeful for the future.

:) Marfla and Cherie,

I went to have the blood drawn yesterday at the hospital per my NP's instructions. WOW! They took six viles of blood. Doing an entire Lupus Panel, some anticoagulent test, and two other test I can't remember the name of it but it was long. :confused:

I offered to donate a pt of blood and they could use it for the test and use the rest for what they wanted but the tech said they didn't have needles as big as coathangers there. Oh well, I guess ya just haveta go with the flow, no punn intended.:D

I have to get over and have the "S" protein drawn which is one of the follow-ups from Heather's findings with her being so ill this month. They say the low "S" protein is a familial coagulation problem and the whole family needs to be tested for it. I don't think it's urgent so will probably have my PCP order it when I see her on October 1 to get results of my DEXA scan and Upper GI.

I hope they find something that can help you feel a bit better than you have been.

wish you the best undx craig. you too cherie.