Chiari and clinical diagnosis of EDS?

I'm going through a host of tests and things related to Chiari (and possibly the lingering after-effects from surgery), and one that has been suggested (and mentioned here) is clinical diagnosis of Ehlers-Danlos Syndrome (EDS).  I'm wondering: what does it matter whether you have this "officially" diagnosed or not, especially if the diagnosis is clinical (based on physical-exam evidence) rather than genetic?

Talking to the genetics clinic to which I was referred, they said they couldn't help with much other than the clinical diagnosis of EDS as related to Chiari - I'm tempted to cancel the appointment because I don't see much use in it.  I have some possible symptoms (fair, translucent, fragile and thin skin; general hyperflexibility; relatively easily dislocated joints; needed palate expansion as a kid to accomodate teeth because my face was too narrow; suture "spitting" since the surgery, although the incision healed fine generally) but doubt I would be a slam-dunk diagnosis if I have it at all (only somehwat easy bruising and slow healing, not super-elastic skin nor some of the "classic" hypermobility things like passive flexion of thumb to forearm, etc.)  

Since there's little treatment for EDS, it seems the diagnosis is not likely to change what I do - I know the issues I have already and do things like avoid stress at the end of my range of motion, try not to over-stretch, etc.

So...is it worse to keep the appointment and have, on record, a potentially false-negative clinical diagnosis (i.e., no EDS), or ditch the appointment and not know for sure whether I likely have EDS it or not?  (If it matters, I do have to travel 2-3 hours by car and spend at least a day away from home/work to keep this appointment - not saying I would cancel something important because of this, but it's added annoyance, travel stress/risk and cost.)

[selmaS]

Hi...well it does help to know for sure but it does sound like u have it...I got my dx b4 surgery and my NS did not use stitches and or staples to eliminate the possibility of the stitches pulling out...I still was very slow to heal...the scar had open wounds for quite some time....they were surface wounds only...but...I still had the oozing to contend with. Knowing I had EDS also made it easier to deal with.My scar healed nicely too ...and the xtra oozing did not affect that.

I know there r Rheumatoid drs that specialize in EDS and they do suggest genetic testing to confirm the exam dx and to be sure what all is involved...ie- vascular EDS.....

I have yet to get an appointment myself as that is also  a distance to travel to get to, but I do plan on doing it soon.I understand the cost ect....but, the fact that EDS has many types that can not be determined thru the physical exam, I find it best to know for sure. If I have the vascular type....there r many things that my drs would need to know if I needed surgery again...which I was told I did....2 more...so, it is a decision u need to make.

There r ways we need to exercise and things we should avoid exercise wise....and getting that  info straight from the horses mouth so to speak is what I would like to hear.....so many conflicting things going on now....do this for chiari, but not for EDS...so then what can  I do?

My facial features are small too!!....I had to have my tonsils and adnoids out in the second grade as I was a mouth breather as a result of the nasal passages being too small.....one dr even asked if I had plastic surgery to  make my nose smaller....NO....lol......take a close look...same one I was born with.....

"selma"

PS- we do have a EDS group here....http://www.medhelp.org/forums/Ehlers-Danlos-Syndrome/show/417?camp=msc

[zippyjo]

Thanks for the EDS group link, selma.  Sounds like if I can confirm I would get the genetic workup, I'll keep the appointment, but if it's just clinical exam I'll hold out for some genetics clinic that can do the right workup.  I saw my neuro again today and discussed this with her - sounds like it's a good idea *if* they are identifying which markers you have.

[selmaS]

Well do keep me posted as I have yet to make that assessment, and am interested on how it is done : )

[zippyjo]

I spoke with the genetics service again today, and it sounds like they do the clinical assessment first to see which markers to test for - apparently, some forms of EDS are more easily tested for than others.  Some the accuracy is only 10%, or it takes a skin biopsy, so they don't take the shotgun approach and test for all types.  Rather, they target which types you are likely to have based on the clinical exam.  If you have a type that can't be tested for, or can't be tested for accurately, at least, they'll discuss the issues with you and the importance (or lack thereof) of finding out before going and ordering the test.

[selmaS]

Good info to know...thanks for sharing : )

So, what if ne tests u r having done ?

[zippyjo]

Don't know yet...appointment is not until September.  Busy specialist center, but at least it gives me time to wrangle my post-op notes and scans to give them.

[selmaS]

Oh ok...well I look forward to ur next update on this EDS journey.....

Good for u ....I must do that as well...have it for my chiari but not the EDS..... : )