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A woman with the rare "Sleeping Beauty" disease diagnosed with a condition that may dislocate her neck



Beth Goodier (pictured above) has been struggling with the rare Sleeping Beauty disease for years and has been diagnosed with a disease that can cause her neck sprain at any time.

Beth Goodier (pictured above) has been struggling with the rare Sleeping Beauty disease for years and has been diagnosed with a disease that can cause her neck sprain at any time.

A young woman who has been robbed of teenage years by the rare disease of "Sleeping Beauty" is now struggling with a disease that can dislocate her neck at any time.

Beth Goodier can't recall any memories of the last eight years and lives with the Kleine-Levin syndrome (KLS), which only affects a handful of people around the world.

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

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

Already around the clock he receives care from his mother Janine, and new diagnoses made the spine so unstable that the neck could dislocate at any time.

EDS is a hereditary disorder of the connective tissue that causes collagen – the glue that holds the body together – to be defective.

Beth (pictured above) needs surgery, and her parents have difficulty finding a surgeon in the UK who will perform the procedure

Beth (pictured above) needs surgery, and her parents have difficulty finding a surgeon in the UK who will perform the procedure

It also means that your neck arteries are at risk of being crushed by your bones – which increases the risk of stroke.

Beth was also told that her brain was hanging down at the top of the spinal cord.

WHAT IS KLEINE-LEVIN SYNDROME?

Kleine-Levin syndrome is a neurological condition that begins in adolescence and sometimes begins after infection or illness.

It is characterized by periods of excessive sleep up to 20 hours a day. Episodes can come very quickly and take from several days to several weeks.

During such an episode, the suffering person can be irritable, childish, confused and wants to eat excessive amounts of food.

Patients return to normal between episodes, however they can become depressed as a result of this condition.

About 1,000 people worldwide suffer from a disorder that is commonly known as Sleeping Beauty Syndrome. Two-thirds of the patients are men.

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

Studies suggest a decrease in the frequency and intensity of episodes within 8 to 12 weeks.

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

She had already had at least one mini stroke and now says that she is mostly associated with the bed due to this condition.

"Because it's your brain, it's not just that" I'll sit in bed. " It's hard to even talk to friends.

"And because there are many arteries that go to the brain, because my neck is moving too much, it can press and trap the arteries. It can stop blood from reaching the brain. "

Beth was very sporty as a teenager before falling ill with KLS, and had a lot of muscle mass, which according to Janine helped "keep the body together" and conceal the fact that she had EDS.

But spending long periods of time in bed caused Beth's muscles to deteriorate, with the result that EDS is now disastrously affecting her health.

In the past, when she didn't have the KLS episode, Beth could go on living normally and go to the gym and see 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 long, suffers severe pain every day, and rarely leaves home.

Her mother Janine said that it affected her badly and that the most serious thing is what is happening with her spine.

Beth is now having difficulty getting outside. Above on the beach in a specially made chair

Beth is now having difficulty getting outside. Above on the beach in a specially made chair

WHAT IS EHLERS – SYNDROM DANLOS?

Ehlers-Danlos Syndrome (EDS) is the name of a group of rare hereditary diseases that affect connective tissue.

Research statistics for Ehlers-Danlos syndromes show that, according to charities, the overall incidence is between 1 in 2,500 and 1 in 5,000.

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

Connective tissues provide support to the 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 a defective gene is not inherited, but it appears in a 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 turned off. Some rare, severe types can be life threatening.

There are several types of EDS that can have common symptoms.

These include increased range of joint movements (excessive joint mobility), flexible skin, and delicate skin that easily breaks or bruises.

Source: NHS

"The impact on her life is huge. Before it gets worse after EDS, she will have her KLS episodes, but otherwise she will be able to go to the gym or go out with friends. normal life as possible.

"Now, especially last year, it just got worse. This is the incredible person she was, her life as it is now.

"He doesn't often get out of bed. During the episodes, he is still in bed, but even now, apart from the episodes, he is in bed. "

Beth urgently needs a life-saving operation to connect her spine, and without her her condition will continue to deteriorate, threatening her life.

Because surgery can be very complicated for people with EDS, the family finds it difficult to find a surgeon in the UK who can do it.

Instead, they now face the huge task of raising 100,000 pounds, so Beth can go to Spain for treatment by a neurosurgeon who specializes in this disease.

Now Beth says that she has no choice in surgery and that she is "afraid" that her condition will cause irreparable damage.

"If I have a stroke and survive it, it can cause irreparable damage forever."

The mother added that it is important for her daughter to undergo surgery as soon as possible, since the deterioration can be terrible.

"We don't like to think about where it might end. We know her brain is bending. We know that she could wake up one morning and discover she had a stroke.

"There is a huge amount of money to collect right now and we don't know how to achieve it."

Beth added that there would be times when she would not go down for a week or outside for a month.

"Even if I don't have a stroke, the life I have now is dead. I can't just live a normal life. I live but I am dead. "


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