"I always thought I was just clumsy."
Ehlers-Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, and Mast Cell Activation Syndrome are so obscure that most doctors have never heard of them.
EDS resources, printables, freebies, awareness products, etc.
After receiving a comment from a fellow blogger (find them here) they suggested I should explain more about #EhlersDanlosSyndrome and honestly I should. What is Eds? So Ehlers-Danlos syndromes (EDS…
Ehlers Danlos Syndrome may not be fun to have, but there are a few pros!
"I always feel like running away right after."
Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but it is now apparent that these form a continuum of clinical findings and differ only in phenotypic severity. It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the α1 and the α2-chain of type V collagen, respectively. However, because no prospective molecular studies of COL5A1 and COL5A2 have been performed in a clinically well-defined patient group, this number may underestimate the real proportion of patients with classic Ehlers-Danlos syndrome harboring a mutation in one of these genes. In the majority of patients with molecularly characterized classic Ehlers-Danlos syndrome, the disease is caused by a mutation leading to a nonfunctional COL5A1 allele and resulting in haploinsufficiency of type V collagen. A smaller proportion of patients harbor a structural mutation in COL5A1 or COL5A2, causing the production of a functionally defective type V collagen protein. Most mutations identified so far result in a reduced amount of type V collagen in the connective tissues available for collagen fibrillogenesis. Inter- and intrafamilial phenotypic variability is observed, but no genotype-phenotype correlations have been observed. No treatment for the underlying defect is presently available for Ehlers-Danlos syndrome. However, a series of preventive guidelines are applicable.
EHLERS-DANLOS SYNDROME. By. Erik, Janelle, Kay and Ryan. http://geneticpeople.com/wp-content/uploads/2009/09/untitled1wk3.jpg. CLASSICAL (TYPE I & II) SYMPTOMS. -Skin Hyperextensibility (Stretchy (like Laffy Taffy!)) -Skin is velvety to the touch, smooth and easy to bruise and tear