Ehlers-Danlos Syndrome Support Group
Ehlers-Danlos syndrome is a group of rare genetic disorders caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary from mild to life-threatening. Common symptoms are unstable, flexible joints with a tendency to dislocate and subluxate, and elastic, fragile, soft skin that easily forms welts and scars.
all of my life ive had problems that doctors look at and just say "i dont know" or "that doesnt make sense"
i used to get horrible pains in my legs, so bad that i couldnt walk when i was younger they always told me they were growing pains, but im 25 and still 4ft 9in tall.
I would get bad infections all the time as a baby and even though i was born 2 weeks late was only 5lbs 13oz and had super flat feet. i had to wear special shoes.
I remember showing all my friends in grade school my cool tricks, i could pop my hips in and out dislocate my jaw and put it back, touch my thump to my wrist and turn my wrist almost 180 degrees.
I was always super flexible.
i played alot of sports growing up, ive jammed and dislocated every finger multiple times, it got to the point where i was so used to it id just reset it myself and get back in the game.
now that im older and had 2 kids everything is worse. my joints hurt all the time, especially my knees and back. ive got bad carpal tunnel and my muscles lock up. my hands and sometimes whole body go numb and tingly.
i get chronic migraines and vertigo.
some nights for no apparent reason ill spend all night sick in the bathroom.
ive notice other weird little quirks too
caffeine has the opposite effect on me. it puts me to sleep, where as stuff like benadryl and vicodin give me more energy.
i dont respond to most pain meds. i got stitches once and they gave me 4 injection to numb the area and i still felt everything, i could tell her the temp of the needle and everything. i remember telling the doc, 6 stitches huh? she asked how i know i said i felt the needle each time, i could even feel the string pulling through.
i have a hiatal hernia that i guess i was born with but didnt find till i was pregnant and thought i was having a heart attack.
my last pregnancy almost killed me. i had so many complication, he had to be delivered early because the placenta was tearing.
i have the memory span of a goldfish.
any of these things hitting home with anyone else?
how long did it take for you to get a diagnoses?
how do you go about it?
i used to get horrible pains in my legs, so bad that i couldnt walk when i was younger they always told me they were growing pains, but im 25 and still 4ft 9in tall.
I would get bad infections all the time as a baby and even though i was born 2 weeks late was only 5lbs 13oz and had super flat feet. i had to wear special shoes.
I remember showing all my friends in grade school my cool tricks, i could pop my hips in and out dislocate my jaw and put it back, touch my thump to my wrist and turn my wrist almost 180 degrees.
I was always super flexible.
i played alot of sports growing up, ive jammed and dislocated every finger multiple times, it got to the point where i was so used to it id just reset it myself and get back in the game.
now that im older and had 2 kids everything is worse. my joints hurt all the time, especially my knees and back. ive got bad carpal tunnel and my muscles lock up. my hands and sometimes whole body go numb and tingly.
i get chronic migraines and vertigo.
some nights for no apparent reason ill spend all night sick in the bathroom.
ive notice other weird little quirks too
caffeine has the opposite effect on me. it puts me to sleep, where as stuff like benadryl and vicodin give me more energy.
i dont respond to most pain meds. i got stitches once and they gave me 4 injection to numb the area and i still felt everything, i could tell her the temp of the needle and everything. i remember telling the doc, 6 stitches huh? she asked how i know i said i felt the needle each time, i could even feel the string pulling through.
i have a hiatal hernia that i guess i was born with but didnt find till i was pregnant and thought i was having a heart attack.
my last pregnancy almost killed me. i had so many complication, he had to be delivered early because the placenta was tearing.
i have the memory span of a goldfish.
any of these things hitting home with anyone else?
how long did it take for you to get a diagnoses?
how do you go about it?
From wiki on type III - Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant.
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From http://www.ncbi.nlm.nih.gov/books/NBK1279/
"Autonomic dysfunction. Many individuals with EDS, hypermobility (and classic) type report atypical chest pain, palpitations at rest or on exertion, and/or orthostatic intolerance with syncope or near syncope [Rowe et al 1999, Gazit et al 2003, Mathias et al 2012]. Holter monitoring usually shows normal sinus rhythm, but sometimes reveals premature atrial complexes or paroxysmal supraventricular tachycardia. Tilt table testing may reveal neurally mediated hypotension (NMH) and/or postural orthostatic tachycardia syndrome (POTS). ..
Aortic root dilation, usually of a mild degree, occurs in 11%-33% of individuals with EDS, classic and hypermobility types [Wenstrup et al 2002, McDonnell et al 2006, Atzinger et al 2011]. The severity appears to be much less than occurs in Marfan syndrome, and there is no increased risk of aortic dissection in the absence of significant dilation. Dilation onset is in childhood and is usually stable over time. It is unlikely to progress or to develop later in life [Atzinger et al 2011..
Dysautonomia may manifest as functional bowel disorders, cardiovascular autonomic dysfunction..
Beta-blockade is rarely necessary, but should be considered for progressive aortic enlargement. Rarely, severe enlargement (>4.5-5.0 cm) requires surgical evaluation...
Baseline echocardiogram to evaluate aortic root diameter, as adjusted for age and body surface area [Roman et al 1989]. Significant aortic enlargement and/or other cardiac abnormalities should prompt consideration of alternative diagnoses. "
The first responder to that thread said this "It helped me to know that studies show that people who are lucky enough to know about their diagnosis live longer than those who don't know." This seems to me to be very true, and it's breaking my heart, to be honest. Much damage happens when we are young and pushing ourselves to the max and causing damage that we may not realize till later. Or neglecting ourselves when if we took more calcium/vit d/ magnesium we would be better preserved later.
Honestly, I'm almost obsessed now with doing research and being militantly pro-active so that more doctors are more competent in screening children for this, as well as adults. If you look back I'm sure you see that there were signs that nobody then understood - like the 'growing pains' I had in my ankles and arches. There are sooo many people out there who are suffering more than they have to, and improvising their own treatments that might be ok but might be making things worse.
Would nutrients really have made a difference in anything other than bone density? Regardless, I totally support your goal of catching things early.
for us with difficulty in constructing collagen, magnesium is recommended as is often under normal for us, Vitamin C, enough calcium with the magnesium and vitamin D. My mom gave us gelatin, which has hyaluronic acid in it. and all of these help us to make the collagen we need.