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Author Topic: Update on Diagnosis  (Read 1969 times)

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SL99

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Update on Diagnosis
« on: March 12, 2003, 02:43:43 PM »
Hi guys,

I had a letter form my geneticist today regarding my final diagnosis and while I still don't have a definite EDS, Marfan or combo situation I am slowly making progress.

I've had quite a lot of the tests and consultaion required, including a biopsies, blood tests, x-rays and a tilt test to monitor my blood pressure which is rather erratic at times. I saw the opthalmologist yesterday and thankfully everything is okay with my eyes, no sign of subluxing lens etc which is a huge relief. The specialist even shook my hand and said how thrilled he was to finally tell me I didn't have something!  :)

There are still a lot of things outstanding though, as my skin biospy needs assessing and I still have a number of tests to undergo plus further consultations too. My geneticist has suggested sending me to a rheumy with specialist EDS/Marfan knowledge, possibly Mr Bird in Leeds and is hoping to investigate wht can be doen orthopaedically for me too.

He's sending me for an echocardiogram as there are concerns about my aortic root size, especially with some of the symptoms I've had lately. I have to confess that this is scaring me a lot as my paternal grandmother died aged 51 from a suspected dissection.  :-/

Actually that's another thing that's come to light as well, it seems there's evidence of connective tissue disorders on both my mother and father's family history. Several reletives on both sides past and present show signs of mild versions of EDS/Marfan...which would acount for why I got hammered so hard with the severe version. I guess it's kind of understandable if I've got faulty genes on both sides.  :(

Anyway, sorry for the ramble but quite a few people had asked me how I was progressing with my diagnosis. Thanks for listening and for your wonderful support through what have been very difficult times for me of late.

Love and hugs.........Jo  :-*
xxx

Offline rhea

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Re: Update on Diagnosis
« Reply #1 on: March 15, 2003, 04:46:37 PM »
Hi Jo,
I'm so glad you are making progress on your diagnosis!  That would be wonderiful if you could get in to see that good rheumy who knows about EDS/marfan's.  It's always good to get in to see the best.  It just gives you an added security to know you've got a correct diagnosis.

I hope your poor elbow heals up soon Jo!  And perhaps the rest of you can be helped with the skills of a good OS.  

Here's to having hope for tomorow!

(((hugs)))

rhea
7 yrs of knee troubles (maltracking, maybe plica).  
Finally found wonderful OS(#4)!
Diagnostic scope+biopsy schduled for sept 23,2003  
HMS/EDS III
Chronic joint pain,subluxations,microtraumas...

Offline Shazinoz

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Re: Update on Diagnosis
« Reply #2 on: March 15, 2003, 05:44:49 PM »
Hey Rhea,
So mice to hea from you again, I have mised you bright happy little "voice" and cute little "avatar" (Ie. Image).
I hope you are going to stay an member of the Odd Bods, for although they "say" you don't have EDS or Marfans or such, you are still DEFINATELY a Hypermobile. Don't rule out that you don't have these either, as I was only diagnosed at 31, and then only a sort of kind of diagnosis, in my teenage years I was diagnosed with everythign from JRA and MCTD (Multi Connecitve Tissue Disorder) to growing pains, and hyperchondria, to unknown pain disorder, unknown connective tissue disorder, unknown collagen disorder , hypermobile, attention seeker, faker and OH so much more. it is only now that my GP beleives I have HEDS and combine this with my RSD and I am F I N A L L Y after nearly 32 years (yes I willbe 32 in 1 month and 1 day <WOW>)getting some help, pain management, treatment, and understanding <YIPEE>.
Keep in touch, and Hopefully I will be able to stick around more at the moment, as I missed you friendly, smiley personallity (and thought of you and the other ODd Bodd and Knee Geeks Frequently during my away time, I think I am FINALLY getting back on track (now if only I could get my CRAZy neighbour to shift away, life would be OK, she is as nutty as a fruit cake and verbally abuses me anytime I go out in my bakc yrad (today was a SHOCKER, the language <BLUSH>, and she threw something at me, I am worried about my helath and injuries and also that she might  hurt my little Boo, IF she keeps it up (I am going to buy a little tape recorder tomorrow and tape this abuse) I will get a restraining order against her, as i really don't need this as when I get upset my pain levels spike out of control (like they have today, and make my insomnia a SHOCKER) but I refuse to let her think she wins, I stayed out in the yard (MY YARD) until I was finished what I was doing, and then came inside and layed down ( I have a heap of ribs dislocated (and/or bruised and/or maybe broken) from ramming a wooden tray into the left side of my rib cage (where I was carrying it one handed, with it sitting on my hip and against my ribs) and I misjudged the door way (a typical Shaz Move) and slammend into the door jam, (with little Boo under my feet, hence me not paying as much attention to my going through the door way that I was on NOT tripping over her) and WHAM , my ribs are in agony (I did thison about Thursday night) and it still hurts to breath or move and my back in the rib cage area is killing me, and is the ENIRE left sode of my ribcage, no external bruising has come up (YET) but Boy does it ever hurt.
OOPs sorry I got WAY off Topic there (SORRY) can you tell I am still upset from this LOONY neighbour.
Night one and All
Sharon (shazinoz)
2 ACL 'reco's', 3 'scopes', Pain, JRA, EDS, RSD, CMP, osetochondral defect & #, synovitis, adhesions, nerve damage, foot drop, MCL damage, tendonitis, fibrosis, ligament damage AGAIN, dislocations +++

Offline Shazinoz

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Re: Update on Diagnosis
« Reply #3 on: March 16, 2003, 05:49:43 PM »
So good to hear form you M, I was getting worried (I guess it is that ODd Bodd sense we have for each other  ;D). YEs even a tooth infection can be serious for surgery as not only can it harm the knee and casue gross and pinful infections but can travel in the bloodstream to your heart causing endocarditis (NOT NICE) and this is why a LOT of odd bods have to have frequent Echocardiograms and if this shows MVP or such (that is mitral valve prolapse) then they have to take antibiotics prior to any surgery and particulary so called "dirty" procedures (i.e. Dental work, colonoscopy or anything done NOT in a STERILE theatre).
Good luck with the wating list and with getting that NASTY wisdom tooth out (on this note also be aware that a LOT of ODD BODS get limited or NO effect from local anasthetics so it may pay to have a twighlight (Sedation) or general anasthetic to have this done, as it can be EXTREMELY painful and not a good time to find out YOUR are one of the one (LIKE ME) who get limited to no effect from local anasthetics (I can email you a copy of the information and research on this if you like).
Good luck and keep in touch
Sharon (shazinoz)
2 ACL 'reco's', 3 'scopes', Pain, JRA, EDS, RSD, CMP, osetochondral defect & #, synovitis, adhesions, nerve damage, foot drop, MCL damage, tendonitis, fibrosis, ligament damage AGAIN, dislocations +++















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