Woman Could Hear Eyeballs Moving Because Of 'Debilitating' Condition, Reveals How Surgery Changed Her Life | HuffPost Life

Rare Condition Meant Woman Could Hear Her Eyeballs Moving

Natasha Hinde— The Huffington Post UK

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When Rachel Pyne turned 27, she was shocked to find she could hear all of her internal bodily noises.

"There were times where my eyeballs sounded like scratching on a chalkboard," she tells HuffPost UK Lifestyle. "I was dizzy, I had brain fog constantly, my voice sounded like a kazoo in my ears, and I could hear my heartbeat all day long.

"Just the slightest noise would make me extremely dizzy, whether that was jingling keys, car horns, cash register beeps, crinkling chip bags, the sound of the road while driving my car, water in the shower or even chewing my food."

It was a living nightmare.

Rachel Pyne

Pyne experienced the first major symptoms of Superior Semi-circular Canal Dehiscence (SSCD) in March 2014.

"I think I've had some of my symptoms ever since I can remember," she admits. "I've heard my heartbeat my entire life, I never knew that wasn't normal. I also always had a sensitivity to noise."

SSCD is a rare disorder caused by a tiny hole in the bone encasing the inner ear.

According to Dr Quinton Gopen, ear surgeon at Ronald Reagan UCLA Medical Center, the hole amplifies the body’s sounds directly into the ear, which constantly bombards patients with noises they wouldn’t ordinarily hear - like their eyes moving, heart beating, footsteps reverberating and food digesting.

"The patient’s own voice echoes inside their head," he says, "prompting a lot of patients to isolate themselves and stop talking. The condition makes the patient extra sensitive to noises and can cause hearing loss and severe vertigo, nausea and balance problems.

"In short, it disrupts a person’s daily life and can be completely debilitating."

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For Pyne, because her condition was so rare, it took several months to get a diagnosis.

"I saw specialists in Chicago, Indianapolis, Baltimore, Boston, Los Angeles, and several local doctors as well," she explains. "No one was able to help."

Most of the time, doctors would send her home with a migraine diagnosis but no treatment plans. "One doctor told me I just needed to learn to live with it," she adds.

Her SSCD had worsened to the point where it affected every aspect of her life.

"I've never been through a harder time," she explains. "I had to stop all social activities. I had to put a hold on my passion for photography. I had to work as little as possible - just enough to cover the bills."

As soon as she'd come home from work, Pyne would go straight to bed where her head would spin constantly until she managed to fall asleep. "I couldn't watch TV. I couldn't listen to music. I got to the point where I couldn't even go into a grocery store anymore.

"I could barely even take showers," she adds. "I would fall nearly every night in the shower."

When she approached doctors at Ronald Reagan UCLA Medical Center, Pyne was at wit's end. But, much to her delight, she was given a diagnosis almost immediately.

"As soon as I was all finished talking, Dr Gopen told me I had SSCD and told me he would do the surgery for me," she says. "I was in tears! No doctor had ever just listened to me like that. It was very validating."

Story continues below...

21 Rare Diseases

Stiff Person Syndrome(01 of21)

People who suffer from this acquired neurological disorder experience repeated, often painful, muscle spasms as well as muscular rigidity and stiffness. According to the National Organization of Rare Diseases, spasms can occur at random or they can be caused by something as seemingly benign as light physical contact or an unexpected noise. The cause of Stiff Person Syndrome isn't yet known, but symptoms can be stabilized with medication. Left untreated, however, a person can lose the ability to walk.

Gigantism(02 of21)

This disease, which according to the NIH is most often caused by a begnin tumor in the pituitary gland, results in an excess of GH, or growth hormone. This causes sufferers to grow abnormally large, not just in terms of height, weight but also organ size. It results in complications like delayed puberty, increased sweating, and secretion of breast milk.

Pica(03 of21)

Characterized as an eating disorder, Pica causes people to eat what the National Organization for Rare Disorders describes as "non-nutritive" things. That umbrella term can include (but isn't limited to) dirt, clay, paper, and paint. Interestingly, it's not unusual for young kids to experience transient pica as a kind of phase, and pregnant women are also known to develop temporary pica cravings. The cause? Unknown. But in order to be diagnosed with full-blown Pica, a person's symptoms must last for more than a month.

Maple Syrup Urine Disease(04 of21)

MSUD, which is passed down through families, is a life-threatening metabolic disorder passed down through families that stems from the body's inability to process certain amino acids, leading to a build-up of them in the body. According to the NIH, symptoms usually surface in early infancy and can include vomiting, lack of energy, seizures, and developmental delays. MSUD takes its name from another symptom -- the urine in affected infants smells like caramel or maple syrup.

Situs Inversus(05 of21)

Situs Inversus is a congential condition in which internal organs of stomach and chest lie in mirror image of their normal body position -- something many sufferers aren't aware of until they seek medical help for an unrelated problem. People with Situs Inversus typically wear some form of identification to help doctors in the case of a medical emergency.

Trigger Thumb(06 of21)

Trigger thumb, or trigger finger as it's sometimes known, causes a person's finger or thumb to get caught in a locked position. According to the Mayo Clinic, it can then stay stuck or straighten with a painful "snap." The cause? It depends. Trigger Thumb is the result of a narrowing of the sheath around the tendon in the problem figure, but that can be caused by a lot of things, including any activity that requires people to grip things frequently. Trigger Thumb is also more frequent in women.

Scurvy(07 of21)

Once the disease of sailors and pirates, scurvy does still exist in the United States, though predominantly in older, malnourished adults. It usually stems from a Vitamin C deficiency, which can result in gum disease, skin leisons, and swelling of the joints. (credit:Getty )

Wilson's Disease(08 of21)

This progressive genetic disorder causes sufferers to store excess copper in tissues, including the brain and liver. Though the Mayo Clinic says that the body depends on copper in order to use iron and sugar, too much of it in the body can have real consequences. Which is why sufferers of Wilson's Disease are prone to liver failure.

Foreign Accent Syndrome(09 of21)

According to researchers at the University of Texas at Dallas, this speech disorder causes people to experience a sudden shift in their accents and though it is known to be caused by things like brain trauma, conversion disorder, or multiple sclerosis, an exact reason behind the syndrome is unknown. Sufferers of FAS dramatically shift their speech in terms of timing and intonation, which often causes them to sound foreign, but they remain totally comprehensible. Documented accent shifts include from American English to British and from British to French.

Carcinoid Syndrome(10 of21)

According to the National Organization of Rare Diseases, about 10 percent of people with carcinoid tumors -- which the Mayo Clinic says are slow growing tumors that produce excess serotonin and usually appear in the gastrointestinal tract or lungs -- get this syndrome. It occurs only in patients whose tumors have metastasized to the liver. The symptoms? Wheezing, hotness, and extreme facial blushing.

Cyclic Vomiting Syndrome(11 of21)

Children and adults afflicted with CVS experience recurrent episodes of severe vomiting, which can last for days, followed by sudden periods of no vomiting. While kids are likely to experience more frequent attacks, adults's often last longer. To date, the cause of CVS is unknown.

Peeling Skin Syndrome(12 of21)

This obscure, genetic skin disorder does exactly what its name implies: causes sufferers to experience constant shedding of their skin. (In some patients, peeling is limited to the feet and hands.) Along with that, sufferers often feel itching and redness -- symptoms that can appear from birth or develop later in life. Although the exact cause is unknown, a mutation in the TGM5 gene has been identified in many sufferers.

Platelet Storage Pool Deficiency(13 of21)

This is a blanket designation for several rare platelet abnormalities, most of which lead to mild or moderate bleeding disorders. According to the NIH, the problem stems having limited granules -- the parts of platelets that, among other things, store ADP -- the energy released when a molecular bond is broken. That reduction in storage space inhibits the platelets' ability to secrete ADP in a speedy fashion, which is thought to be what causes the bleeding. Classic symptoms of a Platelet Storage Pool Deficiency are nosebleeds, excessive bruising, and profuse bleeding in surgery.·

ACDC(14 of21)

Only nine people in the United States are known to have this disease, which was just given a name in a recent study in the New England Journal of Medicine. ACDC, or arterial calcification due to CD73 deficiency, results in calcium build-ups in the arteries below the waist of sufferers and in the joints of their hands and feet. According to the NIH, the breakthrough discovery found that the disease is related to a variant in the NT5E gene.3

Conversion Disorder(15 of21)

This condition, which typically occurs after an extremely stressful emotional event, causes a person to experience sudden blindness or paralysis that can't be otherwise explained. People with mental illlnesses are at particularly high risk and psychological treatment can help lessen the symptoms.·

Ochronosis(16 of21)

Ochronosis results in black or blue external tissues, often the ear cartilage or eye, though it can occur throughout the body. It affects people who suffer from certain metabolic disorders, but it can also be caused by exposure, though scientists aren't exactly sure to what. Not just a cosmetic issue, the affected areas can become brittle and degenerate over time.

VLCAD Deficiency(17 of21)

This condition, which is caused by genetic mutations in the so-called ACADVL gene, keeps people from converting certain fats to energy. According to the NIH, the deficiency often presents during infancy in symptoms including low blood sugar, weakness, and lethargy.

Hairy Tongue(18 of21)

As the name suggests, Hairy Tongue is a condition in which the tongue develops a black, hairy texture. According to the Mayo Clinic, the disease is "harmless" and is caused by an overgrowth of bacteria in the mouth, which can be treated with antibiotics. The NIH reports that hairy Tongue can also present as brown, yellow, or green discoloration. ·

Ochoa (Urofacial) Syndrome, or, Peculiar Facial Expression(19 of21)

This obscure, inherited disorder presents at birth and causes infants to grimace when, in fact, they are attempting to smile. The disorder also includes an extreme urinary abnormality: an obstruction that interrupts the connection between nerve signals in the spinal cord and bladder, leading to incontinence. Though treatment does exist in the form of antibiotics and bladder re-education, some patients can develop renal failure in their teens and 20's, which can be life-threatening.

Eagle Syndrome(20 of21)

This syndrome, caused by a particular calcified ligament or elongated bone, frequently causes sufferers to feel that something is stuck in their throat. (Scientists don't know the reason behind said elongation/calcification.) Other symptoms can include ear and throat pain as well as difficulty swallowing. According to the NIH, it can be treated surgically or non-surgically with steroid injections and other anti-inflammatories.

Progeria(21 of21)

According to the Mayo Clinic, only around 130 cases of this devastating genetic disorder have been documented since it was discovered in 1886. Affected babies normally appear normal at birth, but within 12 months begin to have symptoms like hair loss and wrinkles. According to the Mayo Clinic, progeria is caused by a genetic mutation, but not one that's passed down through families; it's a chance event that affects only one egg or sperm. The average life expectancy for sufferers is 13.

According to Dr Gopen, the Ronald Reagan UCLA Medical Center has treated more than 100 SSCD patients over the past four years.

"We estimate that SSCD affects about one in half a million patients, however the number may be higher," he says.

"Because the syndrome wasn’t discovered until the 1990s, many physicians are not familiar with the symptoms and some patients suffer for months and years without a diagnosis.

"Most patients are middle-aged or older, however, I have treated patients as young as 14."

Dr Quinton Gopen points out tiny holes that developed between the inner ear and the brain of a patient

Pyne admits she was more excited than nervous for the surgery. "I couldn't live with this condition any longer," she says. "To me, brain surgery was my only option."

The surgery involved drilling into the bone above Rachel's ear, and lifting the brain away from the skull.

"This enabled me to access the space between the ear and skull and plug the minuscule hole in her inner ear with an artificial filler called bone wax," says Dr Goben.

Amazingly, the entire procedure lasted 90 minutes and when Rachel woke up, she noticed the difference straight away.

"I had a clear head, I didn't feel any spinning and that's when I knew... It was gone. I couldn't stop thanking my surgeons.

"It was probably the happiest day of my life."

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