Diagnosis, Unknown – Times Publications, January 2012

The pain was so severe Ginger Harvey wanted to die.

Hundreds of fatty tumors — known as lipomas — riddled her entire body, pressing on her nerves, causing searing, excruciating pain.

Harvey’s doctors were baffled — the cause of the painful growths was a mystery. The only prescribed treatment was twice-monthly surgeries to remove the lumps from her arms, legs and torso. But the lipomas, which ranged in size from a pea to a golf ball, rapidly returned. As they grew, they ripped and tore at her nerves like a hot, jagged knife cutting her from the inside.

After years of suffering, in constant pain without a definitive diagnosis, Harvey was in despair.

Her surgeon, Dr. Dan Wesche, injected her with a local anesthesia for a two-hour routine removal of some of the growths. But after numerous operations her body had become accustomed to the numbing drugs and they wore off within minutes. She says the scalpel became like a dagger as the surgeon removed the tumors.

Desperate, she turned to her doctor and pled with him to cut deep and sever her spinal cord to alleviate the pain.

“I can’t do that, Ginger,” Dr. Wesche said. “You know I can’t do that. You would die.”

“At least I would die pain-free,” Harvey responded.

It was a bleak moment in Harvey’s battle against an insidious illness that had come to dominate her life.

“I thought, ‘Why is this happening to me? Why can’t I find any answers?’” says the 61-year-old wife, mother and grandmother. “I felt isolated. I felt like I was the only one in the world with this.”

It would take eight long years before she would eventually be diagnosed with a disease so rare it is practically unknown. This is the story of one Arizona woman’s harrowing fight to unravel her own bizarre medical mystery.

A Medical Nightmare

Ginger Harvey’s nightmare began in 2003 with a pain in her abdomen that just wouldn’t go away. Her doctors first suspected a hernia, but during the surgery discovered something much more unusual.

“You’re never going to believe this,” Dr. Wesche told her.

Next to her left kidney was a fatty growth the size of three golf balls. The growths were not cancerous, but because the tumors were attached to the nerves and blood vessels, it was slowly enveloping and damaging her kidney.

Removing the lipoma should have eliminated the pain. Four days later, however, Harvey felt another lump under her skin, near the area where the first growth had been removed. The lipomas were multiplying.

Soon, the tumors had formed over most of her body. Harvey says she could feel the growths inside her as they formed. At first, her skin would itch insatiably.

“It’s a real intense itching. You just want to scratch yourself raw because it itches so much,” she says. “I’m always itching. I always itch. Everyday I itch. It doesn’t stop. It never stops.”

Days later the itchy areas were accompanied by searing, unceasing pain.

“It was kind of like someone stabbing you, but the knife they’re stabbing you with is connected to electricity, so at the same time they’re stabbing you, they’re shocking you,” she says. “The pain I feel today is an electrical stabbing pain. It feels like someone is playing pinball inside my body, and every time the ball hits the bunker it shoots out an electrical shock.”

Eventually, doctors would remove more than 1,000 growths, leaving Harvey scarred over a large percentage of her body.

“I have over 1,000 scars on my body and some of the scars they have used more than once to reopen,” she says. “I have so many scars that the lipomas are now growing underneath the scars that are already there.”

Several of the tumors formed on Harvey’s organs, causing them to shut down as the tumors grew. In 2003, her surgical team removed part of Harvey’s left lung. The following year her gallbladder was removed. And in 2005 surgeons removed her thyroid.

Aside from feeling extremely frustrated as her disease progressed, Harvey also began to feel isolated. During each appointment she asked her doctor if he had found a diagnosis, a reason why the lipomas kept coming back.

“What could be causing this?” she asked.

“We don’t know, Ginger,” Dr. Wesche would say. “We still don’t know.”

After years with no answers, her frustration turned to anger.

“Finally my emotions settled on sadness,” she says. “I became sad that the medical community was not going to help me. I knew I had to look for it myself.”

Misdiagnosed

One in five Americans is living with a rare disease, according to the National Institute of Health. There are about 7,000 known rare disorders affecting more than 25 million people in the United States.

Each year new rare diseases are discovered, many with no known remedies. Most are genetic; others can be acquired as a result of environmental conditions.

For those afflicted with a rare disease, getting an accurate diagnosis can be arduous and frustrating. Many disorders are misdiagnosed or go undiagnosed for years, says Mary Dunkle of the National Organization for Rare Disorders. For about a third of people with a rare disorder it takes at least five years to obtain an accurate diagnosis, according to studies.

“It’s a very frustrating experience for people suffering from a rare disorder. They’re going around from doctor to doctor and sometimes, after awhile, they just give up,” she says. “People feel very much alone, like they’re trying to navigate the whole health care system and they don’t know where to begin.”

Despite the fact that research on rare diseases helps provide insight into more common diseases, treatment and medication for rare disorders is rarely pursued because there is little financial incentive to market and manufacture new medications to such small groups of afflicted patients.

With many rare diseases there are often no treatment options, and a diagnosis does not necessarily mean a cure. However, obtaining an accurate diagnosis is invaluable to patients, Dunkle says.

“There’s just a huge relief in just being able to put a name on it,” she says. “Even if it’s a really bad disease, just to know what you have and what if anything you might do to fight it — it’s hugely important.”

The Monster Inside

Harvey was in constant pain for years, but through it all she never lost hope.

Her husband’s support kept her fighting, her love of quilting kept her sane and her faith in God kept her grounded.

Harvey regularly searched the Internet for diseases with her symptoms, but information was difficult to come by.

Although at times the pain was unbearable, she knew if she began taking pain medication that she risked becoming an addict, and that too would eventually become ineffective as her body built up a tolerance.

Harvey continued to refuse all pain medication.

Instead, she found relief through unconventional means — the music of Cher.

“I can block things out with music,” Harvey says. “I have learned with Cher’s music there’s a certain level of volume I reach and I picture myself leaving my body. I leave my body on the notes of her music, and I don’t feel what’s going on in my body. If I didn’t have Cher’s music, I would be dead.”

For Harvey, music has become a method of natural pain relief, says Susan Collins, a family nurse practitioner and herbalist who has treated Harvey.

“Music lifts you out of where you are and you forget about your pain,” Collins says. “That works for a lot of people. It has worked for Ginger.”

Then in 2008, Harvey received a call from Dr. Wesche’s office. It was the billing department informing her they were no longer accepting her health insurance and were dropping her as a patient. Harvey has good insurance through her husband’s work as a medical technologist; to her it seemed Dr. Wesche had given up because he couldn’t cure her.

For the next three years, life was dreary.

She needed a new doctor, but, due to the mysterious nature of her affliction, she learned no one would take her on as a patient.

Harvey made appointments with dozens of doctors in her health care insurance network, but once they reviewed her medical records, all declined to treat her. Several wouldn’t return her phone calls, and she says more than one medical receptionist laughed when she told them about her symptoms.

“The three-year process was very long, very frustrating. I would cry a lot because I could not believe the insincerity of front office people. It was very hurtful,” she says. “During those three years I had to do a lot of soul searching. I had to do a lot of digging deep inside myself.”

Meanwhile the lipomas multiplied and expanded.

Then in November 2010, Harvey received a phone call from a friend that would change everything.

“I saw you on TV,” her friend said. “Well, not you, but your condition.”

“Are you joking?” Harvey replied.

Harvey’s friend told her about a program on the Discovery Channel profiling a man afflicted with Dercum’s disease, a rare progressive syndrome characterized by multiple painful lipomas. Harvey logged onto the Internet and began reading anything she could on the disease.

“I sat there and I was reading me,” Harvey says. “I was thinking, ‘Oh my God. I finally have a face to this monster.’”

She called Dr. Andrew Saal of North Country HealthCare, a physician who had treated her in the past.

“I know what I have,” Harvey said.

Dr. Saal researched the disease and in November 2010, Harvey met with him for an official diagnosis. There are no laboratory tests for Dercum’s; instead, a diagnosis is based on patient history and physical findings.

Dr. Saal asked Harvey a slew of questions about her medical history and symptoms.

At the end of the diagnosis, he turned to her and said, “You have Dercum’s.”

A Cruel Disease

Dercum’s disease, also known as adiposis dolorosa, is a debilitating, chronic disorder. There is no cure. There is no treatment. The exact cause remains unknown.

It was first identified in 1888, but despite the fact that the disease has been known about for more than a century, little information has been discovered.

The number afflicted with Dercum’s is unknown. Due to its rarity, few resources have been dedicated to solving the enigma, says Heather Lawver, a Dercum’s patient and founder of the Dercum Society.

“The vast majority of doctors are so completely unaware of Dercum’s disease that if a patient walked in with a classic textbook case, they most likely wouldn’t recognize it,” says Lawver. As far as I know, it’s only mentioned at two medical schools in the entire world — Harvard and the University of Malmo in Sweden.”

Dercum’s is very rarely accurately diagnosed, and most patients spend years in constant pain without knowing the cause. Lawver personally spent four years being turned away by doctors before being diagnosed.

“It’s incredibly, incredibly draining going through the diagnostic process. Anyone would find it difficult watching their body grow uncontrollably. Anyone would feel depressed as they slowly become so overwhelmed with pain that they can no longer keep up with their normal daily activities,” she says. “More often than not, the patients who get an accurate diagnosis are the patients who never stop fighting for themselves.”

Dercum’s occurs mostly in women and can emerge quickly or develop over a long period. There are three distinct types of the disease, all of which involve the mutation of fat cells.

Harvey was diagnosed with the most severe form of Dercum’s, which causes painful lipomas, fatigue, swelling, bruising, stiff joints, headaches, irreversible weight gain and bouts of depression.

“If I was to describe Dercum’s in one word it would be ‘hell,’” Harvey says. “A lot of Dercum’s patients wish they had some other disease including cancer, me included.”

But while being diagnosed with an incurable chronic illness is horrifying, she says knowing what she has is huge step forward. Since her diagnosis, she has been able to connect with other Dercum’s patients through online support groups.

“To have that support from the other Dercum’s patients on the website has been humongous,” she says. “We’re together supporting each other because we’re the only ones who know what we’re going through.”

Earlier this year she also found a surgeon who was willing to take her on as a patient. During their initial consultation, Harvey explained her disease to the doctor.

“I told him he would be doing this strictly for pain control. That he would never cure me,” she says. “It didn’t faze him.”

Today, Harvey is undergoing monthly surgeries to remove the largest growths, which formed during the three years she went without a doctor.

She decided to speak out about her disease in hopes that her story may help diagnose other Dercum’s sufferers.

Harvey doesn’t expect to ever see a cure, and she knows one day she will die with Dercum’s disease, but she says it won’t break her spirit.

“They say that the Dercum’s pain eats at your soul,” Harvey says. “I have added that Dercum’s pain may eat at your soul but it will never take it. I haven’t come to that conclusion. I will never come to that conclusion.”

For more information on Dercum’s disease and other rare disorders:
www.dercumsociety.com
www.rarediseases.org