My name is Holly and I started having problems with my hip when I was 17 years old. My GP said that it was “growing pains” and that I was “playing too many sports” and gave me painkillers and sent me on my way. Then I started getting pain in the other hip, then my shoulder, then my hands…now there isn’t a joint in my body that I haven’t felt ache, crack, pop or dislocate.

It took four years and five different doctors to even watch me walk in front of them, I then was referred to a specialist and was told that I was hypermobile. My geneticist has now diagnosed me with – Classical Ehlers-Danlos Syndrome and Postural Orthostatic Tachycardia. Ehlers–Danlos syndrome (EDS) (also known as Cutis hyperelastica) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (Type I or III). The collagen, often referred to as “glue”, in connective tissue helps tissues to resist deformation. Postural orthostatic tachycardia syndrome (POTS, also postural tachycardia syndrome) is a condition in which a change from the supine position to an upright position causes an abnormally large increase in heart rate, called tachycardia.

My life has changed massively since I found out that I have a rare disease. There is no cure, only pain management and physiotherapy to keep me going for as long as I can. I have had to change my entire life style, I had to leave university and have gone from an active sportswoman to being restricted to only swimming and pilates. I hate pilates!

My condition isn’t a death sentence and it can be managed if diagnosed early and treated correctly. I didn’t have that chance but if we all support the Global Genes Project then others in the future may well do. You don’t have to give money if you can’t, just spread the word on rare diseases like mine so that doctors and other medical professionals can become aware of rare conditions.

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