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Friday, 28 February 2014

Rare Disease Day 2014

Today is rare disease day. I have a few rare diseases, so jeans for genes day is very important. Ehlers-Danlos Syndrome, though the hypermobility type is becoming more common, is considered a rare disease with a prevalence of 1 in 5000. Certainly to have the severity of complications that I have is rare. Ehlers-Danlos Syndrome (EDS) is caused by a defect in the production and/or quality of collagen, the "glue" of the body. The defective or reduced amount of collagen results in fragile, stretchy tissues. This means our skin, ligaments, muscles and organs are fragile and stretchy. It causes a range of problems: "double jointedness" (hypermobility); skin which is thin, sometimes doughy, tears and bruises easily and scars abnormally; pain, both acute (such as that caused by dislocations) and chronic, hard to manage pain; fatigue due to the fact our body constantly has to work hard to keep itself together and functioning; gut problems, sometimes so severe it causes intestinal failure requiring Total Parenteral Nutrition (intravenous nutrition); dysfunction of the Autonomic Nervous System (Dysautonomia), which controls all the automatic processes in the body (heart rate, blood pressure, temperature regulation, digestion, breathing and pupil dilation), such as Postural Orthostatic Tachycardia Syndrome, which I also suffer from; organ and vascular rupture; organ prolapse; bladder problems; bone problems, which can result in bones that fracture easily; eye problems; dental crowding, tooth problems, receding gums and bleeding from the gums; heavy, painful periods; and sometimes marfanoid habitus, which is a tall, thin body frame, long arms and legs, armspan longer than your height and long, thin, spidery hands and feet. 

Then there is Chronic Intestinal Pseudo Obstruction (CIPs). A dysfunction of the nerves and/or muscles of the gastrointestinal tract, which runs from mouth to anus, it can cause life threatening complications and it impairs the ability to eat, digest and absorb food. Many of us rely on intravenous (into the veins via a line which sits just inside the heart, or in a large vein leading to the heart) nutrition, others manage on enteral (into the stomach or bowel) nutrition and some with the least severe complications manage eating or on a liquid diet.

As I mentioned, I also have Postural Orthostatic Tachycardia Syndrome (POTS). It is a dysfunction of the Autonomic Nervous System (described in the EDS section) which causes an sudden increase in heart rate upon change of posture; laying to sitting, laying to standing and sitting to standing. It can be accompanied by a drop in blood pressure, called Orthostatic Hypotension. However, it can also cause problems with temperature regulation, digestion and bladder problems, amongst others. It is managed with drugs to lower heart rate, and for those of us with hypotension (low blood pressure), drugs to increase blood pressure. 

Then you add into the mix bladder dysfunction/failure, Intestinal Failure, Autonomic Neuropathy, Osteoporosis and spinal degeneration. Life isn't easy. But I try to make the most of it. 

About Lucy Watts MBE

Lucy is a disabled 22 year old young lady with life-limiting complications of Ehlers-Danlos Syndrome. She writes and speaks for a number of charities and runs this blog. She is an Ambassador for Together for Short Lives and Dreams Come True, Trustee for the Pseudo Obstruction Research Trust and is the first Youth Ambassador for the International Children's Palliative Care Network, also working with charities such as Scope and the Council for Disabled Children as well as Association for Young People's Health via the Young People's Health Partnership, the Children's Health and Wellbeing Forum and the Children and Young People's Health Outcomes Forum. Lucy was appointed MBE in the Queen's New Year Honours 2016 for her Services to Young People with Disabilities.
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