Woman with rare ‘Sleeping Beauty’ disease diagnosed with a condition that could dislocate her neck

Woman, 25, with rare ‘Sleeping Beauty’ disease which means she can doze off for days on end is now diagnosed with a condition that could dislocate her neck at any time

  • Beth Goodier, 25, has been living with KLS syndrome since she was 17-years-old
  • She has now also developed debilitating Hypermobile Ehlers Danlos Syndrome
  • The condition means that her neck could snap any time due to her fragile body 

Beth Goodier  (pictured above) has battled a rare ‘Sleeping Beauty’ disease for years and has now been diagnosed with a disease which could see her neck snap at any time

A young woman who was robbed of her teenage years by a rare ‘Sleeping Beauty’ disease is now battling with a condition that could dislocate her neck at any time.

Beth Goodier isn’t able to recollect any memories from the past eight years and has been living with Kleine-Levin Syndrome (KLS), which affects just a handful of people worldwide.

The 25-year-old from Stockport, Greater Manchester, has been living with the rare and debilitating neurological condition for nearly a decade.

It can often cause her to sleep for 22-hours a day and months on end, and she has now also been diagnosed with another rare condition, Hypermobile Ehlers Danlos Syndrome (EDS).

She already receives round the clock care from her mother Janine and the new diagnoses has made her spine so unstable, that her neck could dislocate at any time.

EDS is an inherited connective tissue disorder that makes collagen – the glue that holds the body together – faulty.

Beth (pictured above) needs surgery and her parents have struggled to find a surgeon in the UK which will do the procedure

Beth (pictured above) needs surgery and her parents have struggled to find a surgeon in the UK which will do the procedure

It also means the arteries in her neck are at risk of being crushed by her bones – putting her at high risk of a stroke.

Beth has also been told that her brain is sagging down onto the top of her spinal cord.

WHAT IS KLEINE-LEVIN SYNDROME?

Kleine-Levin Syndrome is a neurological condition that starts during adolescence, and sometimes begins after an infection or illness.

It is characterised by periods of excessive sleep of up to 20 hours a day. Episodes can come on very quickly and last between a few days to a few weeks.

During such an episode a sufferer may be irritable, childish, disorientated and want to eat excessive amounts of food.

Patients return to normal between episodes, however they may become depressed as a consequence of the condition.

Around 1,000 people worldwide suffer from the disorder, which is commonly known as Sleeping Beauty Syndrome. Two-thirds of sufferers are male.

There is no known cure for the sleeping disorder, and the main treatment is watchful waiting at home by loved ones.

Research suggests episodes decrease in frequency and intensity over the course of 8 to 12 weeks. 

 

Now Beth and her family need to raise £100,000 so she can have life-saving surgery, without which, her condition will only get worse.

She has already had at least one mini stroke and now says she is bed bound most of the time due to the condition.

“Because it’s your brain it’s not just a case of ‘I’ll sit in bed’. It’s hard to even talk to your friends.

“And because there’s lots of arteries that go to the brain, because my neck moves too much, it can press and trap the arteries. It can stop the blood going to the brain.”

Beth was very sporty as a teenager before she fell ill with KLS, and had a lot of muscle mass, which Janine thinks helped to ‘hold her body together’ and mask the fact she had EDS.

But spending long periods confined to bed had caused Beth’s muscles to deteriorate, and as a result the EDS is now having a catastrophic impact on her health.

In the past, when she wasn’t having a KLS episode, Beth was able to carry on with life as normal, and could go to the gym and see her friends.

But over the past 12 months, her health has deteriorated so much because of EDS that she now has to rely on a wheelchair, can’t sit up for long, is in severe pain every day and rarely leaves the house.

Her mother Janine said that it’s affected her a lot and that the most serious part is what’s happening with her spine.

Beth now struggles to get out at all. She is pictured above out at the beach on a specially made chair

Beth now struggles to get out at all. She is pictured above out at the beach on a specially made chair 

WHAT IS EHLERS -DANLOS SYNDROME?

Ehlers-Danlos syndrome (EDS) is the name for a group of rare inherited conditions that affect connective tissue.

Research statistics of the Ehlers-Danlos syndromes show the total prevalence as 1 in 2,500 to 1 in 5,000 people, according to charities.

There are thirteen individual genetic conditions, all of which affect the body’s connective tissue. 

Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.  

Depending on the type of EDS, the faulty gene may have been inherited from one parent, or both parents.

Sometimes the faulty gene isn’t inherited, but occurs in the person for the first time.

EDS can affect people in different ways. For some the condition is relatively mild, while for others their symptoms can be disabling. Some of the rare severe types can be life-threatening.

There are several types of EDS that may share some symptoms.

These include an increased range of joint movement (joint hypermobility), stretchy skin and fragile skin that breaks or bruises easily. 

Source: NHS

“The impact on her life is huge. Before she deteriorated with the EDS, she’d have her episodes of KLS, but outside of that, she’d be able to go to the gym, or out with friends. She could live as normal a life as possible.

“Now, especially in the past year, she has just deteriorated. It’s actually unbelievable the person she was, her life, to what it is now.

“She not often out of bed. During episodes, she’s in bed anyway, but even now, outside of episodes she’s in bed.”

Beth urgently needs life-saving surgery to fuse her spine, and without it, her condition will only continue to deteriorate, putting her life at risk.

Because carrying out surgery on people with EDS can be extremely complicated, the family has struggled to find a surgeon in the UK who is able to do it.

Instead, they are now facing the mammoth task of raising £100,000, so Beth can go to Spain to be treated by a neurosurgeon who specialises in the condition.

Now Beth says she hasn’t got a choice with the surgery and that she is ‘scared’ that her condition will create irreversible damage.

“If I have a stroke and survive it, that could do damage that’s irreversible forever.’

Her mother added that it’s vital her daughter has the surgery as soon as possible as the deterioration can be terrible.

‘We don’t like to think about where that might end. We know her brain is sagging. We know she could wake up one morning and find she’s had a stroke.

“At the moment it’s just a huge amount of money to raise and we don’t know how it’s going to be achieved.’

Beth added that there will be times when she doesn’t go downstairs for a week or outside for a month.

“Even if I don’t have a stroke, the life I have now, I’m not living. I can’t just live a normal life. I’m alive but not living”.

 

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