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Crest syndrome/ scleroderma

PostPosted: November 10th, 2015, 12:24 am
by Tb12
Hi guys,

Can things get any worse or is this doctor just clutching at straws and heightening my anxiety.

As you know I have been diagnosed with Kennedy's disease recently, we'll I popped into a local dr just for something small and unrelated to my neuro issues, anyway we got talking and I told him some symptoms that I have that I assume are from Kennedy's etc and he says no I don't think so I think you have crest syndrome/ scleroderma and I need to send you for blood tests..

He didn't even do a clinical examination! I just told him about my swallowing issues, joint pain, muscle stiffness and now he has me going on a goose chase for crest syndrome blood tests and I just researched the auto immune disease and it's not a good diagnosis..

I have been to rheumatologist before I was diagnosed with Kennedy's and none of them brought up crest syndrome after examination and this dr didn't even examine me..

Does anyone know what the signs and symptoms of crest are? I thought they were swelling and colouR change in hands? Or fingers that can't move etc?

I'm so confused.

Re: Crest syndrome/ scleroderma

PostPosted: November 10th, 2015, 1:07 am
by Yuliasir
Well, as far as I understand, you got Kennedy disease diagnosis on the basis of genetic tests, so this hardly could be disputable, right?

I realy have no idea whether Kennedy disease could be accompanied with sclerodermia or not. Usually sclerodermia involves quite specific appearance - specific face look, specific form of fingers, skin change on the fingers due to bad microcirculation etc.

rheumatologists usually should check patients complainig for muscular and joint pains to make differential diagnosis of RA /sclerodermia, so if your rheumatologist did not suspect that on the basis of immune tests, then probably this is just another guess.

CREST in fact is a limited form of systemic sclerodermia and specifically limited by hands. But in this case it usually quite clear in terms of physical changes in the hand appearance, low mobility in joints, quite strong Raynaud syndrome (many of us have it becasue of generally bad microcirculation), calcinosis (formation of hard underscim calcium salts deposits under the skin), cracking skin etc. If you do not have that, then probably you should not worry about another disease.

Re: Crest syndrome/ scleroderma

PostPosted: November 10th, 2015, 1:52 am
by Tb12
Thank you Y

Your always a youth full of knowledge..

Yes the KD was by genetic blood test but the general dr thought my joint annoyance and swallowing mobility and stiffness was due to crest scleradoma, he mentioned both names... But as I said he never even examined me and I don't have any skin manifestations and or growths under the skin etc...

Got cold limbs that's about it but no colour change.

Re: Crest syndrome/ scleroderma

PostPosted: November 10th, 2015, 7:10 am
by leroyb
GP's will know very little about neuro-muscular diseases and I really wouldn't pay any attention to them.

Ask a specialist or the best place to look first really is forums for Kennedys Disease maybe Braintalk?

Re: Crest syndrome/ scleroderma

PostPosted: November 10th, 2015, 8:38 am
by Yuliasir
I.ve got a bout of raynaud-like condition once and my daughter has quite a full size one - and I can tell you it is really horrible - white-bluish ends of the figner — till the first or even second joint.. bloody PAIN!
we all can have cold limbs bur Raynaud is quite distinct condition. After I had seen my daughter hands, I would never forget that...

Re: Crest syndrome/ scleroderma

PostPosted: November 15th, 2015, 7:14 pm
by leaflea
Trent,

My doc at Mayo was going down the CREST road. Initial blood tests negative, but I do have so many of the symptoms. I figured I don't need the diagnosis anyway. Maybe I'll go for more testing in the future, but not now. Do a search, you will find others here with it, or family members. It is a connective tissue disease, along with Ehlers-Danlos - something else to search here.

All the best to you!
Leanne

Re: Crest syndrome/ scleroderma

PostPosted: November 16th, 2015, 3:47 pm
by mwagner
Without Raynaud's you cannot diagnose Scleroderma. I think it is completely unprofessional for your doctor to say you have this, or even suspect it - since he's not a rheumatologist. If you don't have Raynaud's you don't have this... Something like 98% of those with Scleroderma have very severe Raynaud's. Multiple people on this board have Raynaud's, but we're talking severe Raynaud's where your fingers turn mutliple colors and you literally have to put them under warm water to get them back to normal.

Re: Crest syndrome/ scleroderma

PostPosted: November 16th, 2015, 8:24 pm
by garym
Tb12 wrote:Hi guys,

Can things get any worse or is this doctor just clutching at straws and heightening my anxiety.

As you know I have been diagnosed with Kennedy's disease recently, we'll I popped into a local dr just for something small and unrelated to my neuro issues, anyway we got talking and I told him some symptoms that I have that I assume are from Kennedy's etc and he says no I don't think so I think you have crest syndrome/ scleroderma and I need to send you for blood tests..

He didn't even do a clinical examination! I just told him about my swallowing issues, joint pain, muscle stiffness and now he has me going on a goose chase for crest syndrome blood tests and I just researched the auto immune disease and it's not a good diagnosis..

I have been to rheumatologist before I was diagnosed with Kennedy's and none of them brought up crest syndrome after examination and this dr didn't even examine me..

Does anyone know what the signs and symptoms of crest are? I thought they were swelling and colouR change in hands? Or fingers that can't move etc?

I'm so confused.



someone provided me a link to a post that you posted on an als site in which you say you didn't receive a dx of Kennedy's......please explain, come clean and apologize if this is true and I will not ban you here. this site isn't very active any more, but I don't want to ban you.

Re: Crest syndrome/ scleroderma

PostPosted: November 18th, 2015, 6:22 am
by Tb12
Hi Gary,

As I stated on the other site, I got a call saying results were not normal, I did jump the gun and post on here explaining what I thought was a kennedys diagnosis but what was said by the neuro geneticist when I saw him was this:

Your gag repeat kennedys test is borderline right on the border, you don't have high gag repeats so something else could be causing your symotoms, I'm just a neuro geneticist I am not a neurologist so I can't rule anything else out!

So it wasn't a normal reading it was right in the middle, I'm only following what drs say.

Re: Crest syndrome/ scleroderma

PostPosted: November 18th, 2015, 6:24 am
by Tb12
To be honest I want to believe my symptoms are less sinister than KD or ALS or anything nasty, don't we all? This site is great and I really don't want to be deleted

Re: Crest syndrome/ scleroderma

PostPosted: November 18th, 2015, 6:01 pm
by garym
Tb12 wrote:To be honest I want to believe my symptoms are less sinister than KD or ALS or anything nasty, don't we all? This site is great and I really don't want to be deleted



fair enough explanation. I'm glad you find the site helpful and wish you the best of luck.

take care,
gary