Jump to content


Biomarker for Diffuse Scleroderma skin has been discovered!


Photo

Still negative ..!


  • Please log in to reply
8 replies to this topic

#1 smanda

smanda

    Bronze Member

  • Members
  • PipPip
  • 20 posts

Posted 02 July 2009 - 09:51 AM

Hi all

I can't believe what is going on ... I have so many symptoms of connective tissue disease (CTD) but yet I still have had another full round of all 'totally normal' blood/immunology testing - something like 50 tests in all. I also excelled for lung function when I had a spirometer test. No wonder everyone thinks it's all in my head!

Things are getting worse, burning, aches pains, reflux, cystitis, diarrhea, the strangest buzzing head, yet nothing shows up. It's almost like someone up there is having a good laugh at my expense and I'm beginning to question myself .. am I somatizing? But then I (sadly) remember the visible signs.

I am booked to have Barium Swallow and proper lung function tests next week.

Thanks so much for listening .. I suppose I just felt like 'twittering'.

Smandaxx

#2 Amanda Thorpe

Amanda Thorpe

    Platinum Plus Member

  • ISN Senior Support Specialist
  • PipPipPipPipPipPipPipPipPipPipPip
  • 2,927 posts
  • Location:U.K.

Posted 02 July 2009 - 10:37 AM

Hello Smanda

I am sorry you are having the most frustrating journey to a diagnosis and telling you that many other have had one also makes it no easier for you.

Blood tests are not the be all and end all when it comes to diagnosis, my blood work is normal I.e. negative ANA and low rheumatoid factor. According to my blood results there ain't nothin' wrong with me! Needless to say I have a diagnosis of diffuse cutaneous systemic sclerosis with a morphea overlap and bullous morphea (keep mentioning it 'cause it's really rare!). My lung function tests are normal and it was a year after diagnosis before bowel issues started and two years after before gastro issues started and the ECHO results were altered. My only symptoms at diagnosis were fatigue and widespread skin involvement, I know that's an obvious symptom but the point is it's all I really had to go on at the time.

You are going to have to be persistent because you know there is something wrong. I don't believe that doctors enjoy being unable to get to the bottom of a patients' issues I just think they're understandably cautious before landing someone with a potentially life changing diagnosis and they need to be absolutely sure. Of course this is cold comfort when you have symptoms and no named cause.

Are you seeing doctors familiar with scleroderma because they're best placed to add symptoms and test results up correctly?

Please keep us informed and be assured no one is laughing.

Take care.
Amanda Thorpe
ISN Sclero Forums Senior Support Specialist
ISN Video Presentations Manager
ISN Blogger

(Retired) ISN Sclero Forums Assistant Manager

(Retired) ISN Email Support Specialist
International Scleroderma Network (ISN)

#3 Jeannie McClelland

Jeannie McClelland

    Senior Gold Member

  • ISN Support Specialists
  • PipPipPipPipPipPipPipPipPipPip
  • 1,706 posts
  • Location:in the Rocky Mountains of the USA

Posted 02 July 2009 - 11:00 AM

Hi Smanda,

I imagine if you polled all the Forum members, you'd find many, if not most, of us had a really tough time getting a diagnosis. Shelley often mentions that it takes an average of 6 years to get confirmation of what most of us have known for a long time - we're sick! (Not referring to our sense of humour here...) When I got my diagnosis, I burst out laughing. It was such a relief! I had just about been convinced I was headed for the rubber room.

So hang in there and feel free to twitter whenever you want to - you'll always have a sympathetic audience.

Warm hugs,
Jeannie McClelland
(Retired) ISN Director of Support Services
(Retired) ISN Sclero Forums Manager
(Retired) ISN Blog Manager
(Retired) ISN Assistant News Guide
(Retired) ISN Artist
International Scleroderma Network

#4 Susanna

Susanna

    Newbie

  • Members
  • Pip
  • 8 posts

Posted 02 July 2009 - 04:47 PM

Hi Smanda,

Don't despair. Unusual medical conditions can take years to diagnose, partly because doctors work on an elimination basis. I have a genetic one apart from systemic scleroderma that has never been diagnosed, even in two relatives that were hospitalised for years because they were so disabled by it. I know your sense of frustration and the way you question yourself and whether it is psychosomatic all too well. I believe the key thing it to help yourself as much as possible by keeping as well as possible and not giving yourself undue angst over it.

With tricky conditions, it's nice having a label, ie a diagnosis, but in a sense that is all it is. Even scleroderma is a label and no two people's symptoms and response to various treatments exactly the same.

Meanwhile, the sense you get that doctors think it is all in your head is common - I have been there but actually that's not what they are saying. They can do tests to tell you what you haven't got but until they luck upon the right one, that's all they can do. I went through copies of old specialists' letters to my doctor (I was sent copies too) the other day when having a clean out. I can remember they would really upset upset me when they arrived but now I realise that my reaction was emotional and not rational at all. I read things into those letters that the writer never intended me to because I was so upset at the time and disappointed that yet again they had not come up with a diagnosis.

Hang on in there - don't doubt yourself and concentrate on enjoying life as much as you can. I focus on what I can do not what I can't. And most of the time it works.

Why not look upon having normal bloods as a good thing – who wants ANAs anyway! They ain't friends that's for sure. May be not having them means you can better fight what is going on.

Atta girl - and vent here when you need to. It does help keep things in perspective which is awfully difficult when your body is playing tricks on you and you don't know what is going on.

Susanna

#5 smanda

smanda

    Bronze Member

  • Topic Starter
  • Members
  • PipPip
  • 20 posts

Posted 02 July 2009 - 07:20 PM

Thanks for your support .. I really do need it.

I do have a sclero expert so I think I'm in good hands.

I'll keep you updated.
ax

#6 debonair susie

debonair susie

    Platinum Member

  • ISN Support Specialists
  • PipPipPipPipPipPipPipPipPipPip
  • 1,638 posts
  • Location:(United States)

Posted 06 July 2009 - 08:36 AM

Best of luck with the barium swallow and the PFT (lung function test), this week, Amanda.

Will be thinking of you and awaiting your post!
Special Hugs,

Susie Kraft
ISN Support Specialist
ISN Chat Host
International Scleroderma Network (ISN)

#7 mona

mona

    Bronze Member

  • Members
  • PipPip
  • 17 posts

Posted 06 July 2009 - 12:52 PM

I completely agree with the other posters. I hope all goes (or went) well for you. It can be the uncertainty of a thing that gets to us. I have the weirdest looking skin I have ever seen yet have no concrete diagnosis. I have an appointment tomorrow with a specialist and who knows what he will say. When it comes to a diagnosis --I know one will come and am not sure I really want it!

Hang in there;)

#8 debonair susie

debonair susie

    Platinum Member

  • ISN Support Specialists
  • PipPipPipPipPipPipPipPipPipPip
  • 1,638 posts
  • Location:(United States)

Posted 07 July 2009 - 07:23 AM

...know that feeling too, Mona.

Yet, I better deal with things...when I know what is going on. Then, I can take the bull by the horns, so to speak and do what needs to be done...to take care!

Hope YOUR appointment went well for you also. Will be waiting to read your post!
Special Hugs,

Susie Kraft
ISN Support Specialist
ISN Chat Host
International Scleroderma Network (ISN)

#9 smanda

smanda

    Bronze Member

  • Topic Starter
  • Members
  • PipPip
  • 20 posts

Posted 07 July 2009 - 08:05 AM

Hi ... good luck tomorrow Mona.. Let us know what he says.

amandaxx