Doncaster mum fears rare illness means sudden jolt could kill her

Mum Jennie Smales from Bentley who is thought to suffer from Cranio-Cervical Instability and is trying to get treatment and a confirmation of the diagnosis. Jenie is pictured with son Thomas, two.
Mum Jennie Smales from Bentley who is thought to suffer from Cranio-Cervical Instability and is trying to get treatment and a confirmation of the diagnosis. Jenie is pictured with son Thomas, two.

A mum-of-two suffering from a rare condition which means a jolt to her head could be fatal is raising money for tests that could lead to a life-changing operation.

Ten years ago, Jennie Smales was a mum-to-be with back problems.

But after a succession of medical issues, she is thought to suffer from a rare condition which means a jolt to her head could be fatal.

She believes she is suffering from a rare condition called Cranio Cervical Instability, or CCI, and is trying to get medical tests which she thinks could enable her to know for certain.

She has been turned down by the NHS for a test called a vertical scan, which experts have told her she would need to get confirmation of the illness, so is raising money to pay for it herself.

Jennie, of Maw Lane, Bentley, has already been diagnosed with a number of serious of medical conditions which have largely left her bedbound. Her 35-year-old husband Karl, an ex-solider, has given up his job to be full time carer for her and their children, aged two and nine.

The include Positional Orthostatic Tachycardia Syndrome, Ehlers Danlos Syndrome, and Mast Cell Activation Disorder.

They result from faulty collegen in her body, which means her tissues are too elastic. While it could mean she has very flexible limbs, the impact on her day to day life means connective tissues in her body are too flexible.

It means her organs are not held in place as tightly as they should be, and even the extra flexibilty of her blood vessels means at times she can faint when she stands up.

At one point she was passing out 17 times a day, but she has taken medication to help the problem.

But in the last few months she has started to show new symptoms, including slurring, a judder in her diaphragm, and dizziness and a loss of balance which has led to her falling. She believes it follows her banging her head on a water slide last year.

She has seen a neurologist who indicated she may have CCI. Her specialist nurse agrees it is possible.

CCI is where the area where the skull joins the spine becomes unstable. It is associated with Ehlers Danlos Syndrome and can lead to death if there is a sudden jolt.

Jennie wants something called a vertical scan - a type of medical scan which is carried out on a patient who is standing upright, and has started a crowdfunding appeal.

You can donate on https://www.justgiving.com/crowdfunding/jennie-smales.

Jennie said: "If it is CCI, it could kill me in two ways. It can lead to compression in the spinal column causing the organs to pack up because they done get signals from the brain. Or if you're jolted in a crash, it can dislodge vertibrae in the neck and that can cut the spinal chord, leasing to paralysis or death.

"It means I can't go on a horse, trampoline or a rollercoaster.

"I don't know what's more scary - thinking it may be CCI or not knowing."

She is trying to raise £2,000 and has a fundraiser at December 1 at Bentley Top Club, and another on December 5 at Bentley Library. If she fnids she has it, will will look to fundraise for an operation to treat it.