ehlers danlos type 3

[Sexybare]

selma- can u tell me anything about this? saw nl today and hes almost positive i have it and im seeing a rheumatologist on monday and if he confirms it than i may have to see a genectist but nl doesnt think they can do a blood test to prove it? internet doesnt give me enough info.....any sugestions
heres a list of my symptoms: really high palate(nl is amazed by it,lol),gerd and ibs, dysautonomia,chiari,tmj,double jointed in some, left side hypermobile, pain in wrists and knees, deformed pinky toes,bruise easily,heal slowly.....whats your opinion?

[Viva001]

Do you grind your teeth?  That's frequently given as a cause for the bone exposure, but that doesnt make sense to me.  One dentist told me "it doesnt help".

And why do I grind my teeth so aggressively anyway?  I have broken my teeth as well as crowns!  I think it's a signal from my brain, like restless leg. (which people like to make fun of, but is real).

[Viva001]

Thanks

I'm going to ask my NS if there's anyone he recommends before I see him next month.

I forgot--I also developed a deviated septum, apparently in the last yr.  I presume EDS progresses?

[actressmouse]

DO get this checked out by a genetic doc....there are many, many types of connective tissue disorders....Dr. F is still unsure of my type.  She's thinking either a rare form of Stickler's or a weird presentation of EDS....personally, I think I lean more toward the EDS, but I'm not a doc....

[Sexybare]

I have the same thing under my tingue with the bone and only on left side, hmmmmm

[Viva001]

I really need to investigate this further.  The weird things I have don't hurt very much or affect my quality of life--so far--but still, are not normal:  my 2nd toes are starting to cross over thebig toes, my detached retina in which my eyeball didnt look normal, & the growth of the torus (bony protrusion) under my tongue.  In the latter, the bone is almost completely exposed on one side.

My toes shifted between seeing Dr. Rosner in January & June.  He found it quite startling.

[actressmouse]

Some types of EDS can be tested for using a blood sample.  That's what Dr. Francomano did when I had my visit in January (Genetic doc in Baltimore).  My initial DNA blood testing came back Negative; however, it was only looking at one type of collagen....Therefore, in the future, I will need another blood DNA test to test for the other collagen defects.  Only certain labs do these tests and they can take 3 months or more to get results.  A "negative" test does not mean that you don't have the disorder or syndrome...it just means that a mutation of that particular collagen was not found.  There are so many different collagens in the body and there needs to be more research done to uncover the types of collagens linked to specific connective tissue issues.

[Sexybare]

i believe if i have eds that i have passed it on to my oldest son. he has flat feet, bad ankles require surgery and dif joint pan issues thats unexplained. this may be a puzzle coming together?!

[selmaS]

  They do testing to determine the type of EDS u have, it is thru a skin biopsy they do this....EDS and types has something to do with genetics.....

A rheumatoid Dr that specializes in EDS is who u want, but u will still get sent to a geneticist....

The best explanations r in the videos by Dr Driscoll in the EDS group....she is a Dr that also has EDS...so she is very concise on what EDS is, the types and how they dx it and the types.

[Viva001]

Why is a geneticist the specialist to see?

[selmaS]

  Well I felt all along that u had EDS...not sure about type 3...but we do have info in the EDS group here on MedHelp....there r videos by Dr Driscoll.

http://www.medhelp.org/forums/Ehlers-Danlos-Syndrome/show/417?controller=forums&action=show&id=417&camp=msc

I think u would see a geneticist next and they do a skin biopsy to determine type.....

I many of the same and have yet to get to a Dr that can dx the type as I have to go out of state....

This does not surprise me that u got this dx....now to move forward and  get the right care ....keep me posted on how this goes for u.