Hypermobile Ehlers Danlos Syndrome (hEDS) is a connective tissue disorder primarily caused by faulty collagen resulting in the joints not being adequately supported by the ligaments. The condition is not, however, limited to joint subluxation/dislocation, which in itself generates chronic pain, fatigue and vulnerability to soft tissue injuries, rather it is a complex constellation of symptoms which can include cardiovascular problems such as tachycardia, bowel dysfunction and prolapses. In addition, and on average, one in fifteen sufferers develop cranio-cervical instability (CCI.) This is a structural instability of the cranio-cervical junction – where the cervical spine connects to the skull – and causes debilitating pain in the head and neck. Other neurological problems may include deformation of the brainstem and the spinal cord.

My niece has both hEDS and CCI. She is 27 years old and has suffered from musculoskeletal pain and injuries since her early teens. She has had scoliosis surgery to correct a spinal curvature and much of her mid to lower spine is fused, supported by metal rods. Like many patients with hEDS she has struggled to get a diagnosis of her condition. (On average, it takes the NHS 13 years to diagnose.) Also, like many others, she has not had any specialist support. (There is currently a three- year waiting list at the nearest EDS clinic in Manchester.) And, again like many other sufferers, she has had to pay privately for specialist scans. Now she has a diagnosis of CCI there is still no NHS support, advice or treatment available. This condition is severely disabling and potentially life-threatening. There are only a small number of specialist surgeons who operate on hEDS patients with CCI and not one of them is in the UK. A renowned Spanish specialist has recommended that Ella undergoes a full neck fusion to prevent the progression of her condition. The NHS do not fund this surgery whether carried out at home or abroad.

To support my niece in raising funds to pay towards her surgery im particpating in a Tough Mudder event, which is a half marathon consitsing of 20 obstacles featuring mud, water, ice and electricity.