My genetic disorder has an AWARENESS MONTH

[MWOS]

:preens:


Be AWARE people!

If your favorite party trick is how you can lick your own elbow, you might have Ehlers-Danlos Syndrome.

Happy EDS Awareness Month!

[Deleted]

Interesting. I wonder if I have some form of this. I've had numerous problems with my tendons and fascia. My surgeon even remarked that my fascia was like that of a 90 year old lol

[lolly]

My sister has this. I wonder if she knows!

[MWOS]

Are you real bendy?

[luckyval]

I really want to try this, but my office door is open

[jane6672]

Mary, you are one in 10 to 15 thousand!

[ering1115]

I can lick my elbow and my knees dislocate all the dang time. I have never heard of this though, hmmm.

[Deleted]

May 1, 2013 9:47:46 GMT -5 MWOS said:

Are you real bendy?

Well I can't lick my own elbow, but I'm pretty bendy otherwise. I can stand with my feet together pointing in the opposite direction from each other (hot)

[MWOS]

It is possible to be considered Hypermobile without having Ehlers-Danlos. There is a spectrum from really not-bendy to bendy (hypermobile) to super-fucked up (EDS). With EDS, you need to have your heart monitored yearly and for the ladies, your pregnancies will be considered high risk.

[Deleted]

Turns out that Ehlers-Danlos Syndrome is kind of an interesting thing to google image search, lol.

[MWOS]

May 1, 2013 9:52:07 GMT -5 @godawgs said:

Turns out that Ehlers-Danlos Syndrome is kind of an interesting thing to google image search, lol.

Trust me, I'm my own google image. I'm picking up what you're throwing down.  My ankle surgeon photographed my hands for a medical journal.

[MWOS]

Here's a list of symptoms, per wikipedia. When I read this list, it wasn't even a question of whether or not I had it, just a question of which type.

Musculoskeletal:

Hyper-flexible joints (It is possible to be very flexible or have "double joints", however, this is not the same as EDS.)
Unstable joints that are prone to: sprain, dislocation, subluxation and hyperextension[5]
Early onset of advanced osteoarthritis[6]
Chronic degenerative joint disease[6]
Swan neck deformity of the fingers[7]
Muscle fatigue that increases with use
Weak muscle tone (hypotonia) in infancy, which can delay the development of gross motor skills such as sitting, standing, and walking
Osteopenia (low bone density)
Stretchy ligaments and tendons
Tearing of tendons or muscles[8]
Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility[9]
Myalgia (muscle pain) and arthralgia (joint pain),[10] which may be severe

Skin:

Stretchy skin with a velvety texture
Fragile skin that tears easily[6]
Easy bruising, which can be severe
Abnormal wound healing and scar formation, leading to widened atrophic scars
Redundant skin folds[6]
Molluscoid pseudotumors,[11] especially on pressure points
Subcutaneous spheroids[11]
Fatty growths on forearms or shins
Angioplasia

Cardiovascular:

Fragile blood vessels with tendency towards aneurysm including abdominal aortic aneurysm
Life-threatening carotid-cavernous fistula
Unpredictable rupture of medium-sized arteries, especially cerebral arterial rupture
Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)[12]
Postural orthostatic tachycardia syndrome (P.O.T.S.)
Orthostatic intolerance, theoretically caused by excessive distension of veins (upright posture causes blood pooling in lower body, leading to a 44-60% decrease in cerebral blood flow velocity
Dilation and/or rupture of ascending aorta[13]
Cystic medial necrosis
Varicose veins
Vascular skin conditions: Raynaud's phenomenon, Livedo reticularis

Other manifestations or complications:

High and narrow palate, resulting in dental crowding
Early-onset periodontitis
Nearsightedness, which may be extreme
Blue sclera
Retinal detachment
Flat feet
Digestive disorders: (gastritis, gastroesophageal reflux disease, irritable bowel syndrome, diverticulitis, gastroparesis (partial paralysis of the stomach))
Hiatial hernia[11]
Anal prolapse[11]
Dysautonomia
Vulnerability to chest and sinus infections
Collapsed lung (pneumothorax)[6]
Intestinal/uterine fragility or spontaneous rupture
Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)[14]
Anxiety disorders, depression, psychosocial dysfunction
Insensitivity to local anesthetics.[15]
Arnold–Chiari malformation (brain disorder)[16]
Cranial instability
Migraines
Problems with concentration and/or memory
Problems with proprioception including dysmetria
Talipes equinovarus (club foot), especially in the Vascular type
Platelet aggregation failure (platelets do not clump together properly)[17]
Bleeding diathesis
Petechiae
Cerebrospinal fluid leak (rent in the meningeal tissues: dura, arachnoid)
Temporomandibular joint syndrome
Surgical complications and intraoperative problems due to tissue fragility
Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficienty, uterine tearing,[8] or premature rupture of membranes.[18]

Because it is often undiagnosed or misdiagnosed in childhood, some instances of Ehlers–Danlos syndrome have been mischaracterized as child abuse.[19] The pain associated with this condition is a serious complication.

[textbookcase]

Wooo! Good ol' hypermobility. If you've ever had a rib subluxation for 4 months raise your hand!

*raises hand*

[ering1115]

Interesting..... google images isn't convincing me that this isn't me. I am going to ignore all of the symptoms and go with- I have super bendy fingers, shoulders, and my degenerative disc disease is just what happens in my family.

Sorry MWS- it sounds super painful.

[MWOS]

May 1, 2013 10:01:12 GMT -5 ering1115 said:

Interesting..... google images isn't convincing me that this isn't me. I am going to ignore all of the symptoms and go with- I have super bendy fingers, shoulders, and my degenerative disc disease is just what happens in my family.

Sorry MWS- it sounds super painful.

There is a 9 point physical exam to diagnose EDS.

You get a point for super bendy fingers (1 pt per hand)
A point for super bendy thumbs (1 pt per hand)
A point per elbow
A point per knee
A point if you can stand with your knees straight and put your hands flat on the floor

Super bendy has a certain number of degrees past normal in order to award you the point.  I'm Gifted, so I scored a 9/9.

I would encourage anyone who thinks it might be a possibility to ask their doctor. The heart monitoring stuff is super important because people with EDS tend to have their hearts explode, amirite CheshireGrin

[lolly]

I realize my post sounded flip - my sister really does have this, and she has gone through a lot (retinal detachment, prolapse, chronic pain). The heart issues really worry me. Sorry you are dealing with it Mary.

[cc]

I can do that and I also have mitral valve prolapse.

My arms don't lay flat because my elbows are crooked and I've always wondered if I have some sort of genetic disorder. When I was born, my neck was crooked and I had to were a brace and my feet turned inward, so I had to wear shoes that pointed out with a metal bar connecting them.

[MWOS]

May 1, 2013 10:16:30 GMT -5 lolly said:

I realize my post sounded flip - my sister really does have this, and she has gone through a lot (retinal detachment, prolapse, chronic pain). The heart issues really worry me. Sorry you are dealing with it Mary.

Even if you were flip, I'm okay with that. Nothing I can do to fix this and it's been this way since the moment my messed up chromosomes combined. Prevention is key, and knowing what I'm at risk for lets them monitor for things before it's too late. 

My brother and sister have it too. And my dad. And his dad. And on and on. Yay for autosomal dominanace.

[anlo]

May 1, 2013 10:23:44 GMT -5 aeg511 said:

Is anyone else thinking of Phoebe with all the "bendy" mentions?

I'm glad this disease has some awareness, Mary!

Yes! When she tries to seduce Chandler, lol.

ETA: I just googled. Ouch, Mary.

[MWOS]

May 1, 2013 10:20:35 GMT -5 cc said:

I can do that and I also have mitral valve prolapse.

My arms don't lay flat because my elbows are crooked and I've always wondered if I have some sort of genetic disorder. When I was born, my neck was crooked and I had to were a brace and my feet turned inward, so I had to wear shoes that pointed out with a metal bar connecting them.

My EDS meter is dinging. Have you ever had a hernia? Do scars take a long time to heal and then heal into wide ridges?

My sister was born with bilateral hip dysplasia, so things like that are common with EDS.

[cc]

May 1, 2013 10:27:33 GMT -5 MWOS said:

May 1, 2013 10:20:35 GMT -5 cc said:

I can do that and I also have mitral valve prolapse.

My arms don't lay flat because my elbows are crooked and I've always wondered if I have some sort of genetic disorder. When I was born, my neck was crooked and I had to were a brace and my feet turned inward, so I had to wear shoes that pointed out with a metal bar connecting them.

My EDS meter is dinging. Have you ever had a hernia? Do scars take a long time to heal and then heal into wide ridges?

My sister was born with bilateral hip dysplasia, so things like that are common with EDS.

No on the hernia, but yes on the scarring. Reading through that list, I also have had problems with migraines, memory, and concentration. I also recently had a case of Petechiae which freaked me out.

[pantsparty]

MY genetic disorder has an entire awareness YEAR. That is, if you can call "being awesome" a genetic disorder.

[MWOS]

May 1, 2013 10:33:52 GMT -5 pantsparty said:

MY genetic disorder has an entire awareness YEAR. That is, if you can call "being awesome" a genetic disorder.

Will you mate with me?

[ering1115]

May 1, 2013 10:27:33 GMT -5 MWOS said:

May 1, 2013 10:20:35 GMT -5 cc said:

I can do that and I also have mitral valve prolapse.

My arms don't lay flat because my elbows are crooked and I've always wondered if I have some sort of genetic disorder. When I was born, my neck was crooked and I had to were a brace and my feet turned inward, so I had to wear shoes that pointed out with a metal bar connecting them.

My EDS meter is dinging. Have you ever had a hernia? Do scars take a long time to heal and then heal into wide ridges?

My sister was born with bilateral hip dysplasia, so things like that are common with EDS.

Alright woman, now you are freaking me out.  Can my Primary Care Doc do whatever assessment or do I need to go to another doc?

[pantsparty]

May 1, 2013 10:36:01 GMT -5 MWOS said:

May 1, 2013 10:33:52 GMT -5 pantsparty said:

MY genetic disorder has an entire awareness YEAR. That is, if you can call "being awesome" a genetic disorder.

Will you mate with me?

I thought you'd never ask!

[Deleted]

i'm so aware!

you need an appropriately-colored ribbon for sure.

[pantsparty]

May 1, 2013 10:42:27 GMT -5 mofongo said:

Question Mary - does this 'bendy' symptom enhance things in the bedroom area?

Thank you for asking the question we all wanted to ask.

[MWOS]

ering- I would start with your primary care doctor. I started with my surgeon. I asked him if EDS was a possibility and he said "hmmm, that would explain a lot of things" and sent me on to the specialist who made the diagnosis.

cville- our ribbon is zebra striped. Because in medicine the saying is "if you hear hoofbeats, think horses, not zebras". Meaning, don't go looking for crazy diagnoses for common symptoms. Which is great unless you're the one with the rare genetic disorder.

[MWOS]

w/r/t things in the bedroom. There are pros and cons. Am I more bendy? Damn straight. But I'm also concerned with hurting myself through vigorous activity. That being said, I've never had any complaints

[Deleted]

Pleeeeeeaaaase tell me you have the velvety skin part?