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Collagen disorders - it may not be Ehlers-Danlos syndrome!

Dr. Diana discusses a couple of the rarer collagen disorders that may be underdiagnosed. She discusses Stickler syndrome, Marshall syndrome, the eye effects involved and loss of hearing
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Thanks Dr. Diana.

I’m certain I have some sort of hypermobility syndrome with frequent dislocations that have become less frequent as I have gotten older, but with joint pain- especially in my legs and disc issues in my neck and lower back.  My eye dr suspects Sjogrens (with corneal abrasions from dry eye- restasis helped, constipation, frequent vaginosis, sinus infections, dry mouth, and dry ears).  I have had postural orthostatic hypotension along with loss of sweating on arms and legs and erratic blood pressure since my late 30s and I am now 55 and have started having the same dizzy spells while sitting or lying down.  I thought I was having TIAs but the folks in the emergency room thought it was related to the POTS.  Other than that, I am wonderfully healthy…great lungs and heart and other measures (except chronic thyroiditis and a BMI of about 37).  I also had 2 premie births starting with water breaking and have have my gallbladder removed from gallstones, half my thyroid removed (along with parathyroid), hysterectomy due to fibroids, endometriosis, and adenomyosis, a partial fasciectomy and bone spur surgery along with ligament tightening on my left foot and horrible spider veins on my right ankle (numerous breaks there as well), and bilateral arthroscopes on my knees.  I don’t know what kind of Dr to go to, I’m so tired of having my family think I’m a hypochondriac, but feel I need to find out why I have these health issues and want to know my prognosis and how to manage them.  The last neurologist I went to said there was nothing wrong with me even with tilt table test positive for pots and sweat test.

Thank you Dr. Diana for your video on recognizing that Stickler syndrome is a common but rarely diagnosed connective tissue disorder.  Our support group (http://www.sticklers.org/) has been getting the word out since 1997 and your acknoledgement will help educate the medical field and the public.  Kudos to you!  Rick

Just wanted to add it could be Nail Patella Syndrome too! It really makes sense for some of us spinal Zebras!

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