The Mysterious Case of Vanishing Bones and a Mother's Hug Delayed

Cooing in her mother’s lap, Sky Meadow Harms is the center of the universe. And when it’s time to hit the floor crawling, she is picked up, hugged and turned loose by dad, Ryon, for whom the birth of his daughter and the life of his wife are nothing less than miracles.

Laurie Harms, 31, suffers from a disease so rare that fewer than 200 cases have been recorded worldwide. She endured nearly two decades of pain and uncertainty before reaching Cedars-Sinai Medical Center and the care of a team of surgeons at the Spine Center. Four other neurosurgeons had already given up on her care.

Laurie was 13 when she began to experience progressively debilitating pain in and around her left ear. Doctors dismissed the symptoms as ear infections, sinus problems or muscle spasms, but after years of emergency room visits, a CT scan revealed disintegration of her neck bones and an undetermined tumor mass.

The pain, bone loss, and questions kept coming, and at age 22, Laurie was told she had what amounted to a broken neck. She needed bone fusion surgery right away.

Single, and facing major surgery and an uncertain future, a shaken Laurie thought of Ryon. They had worked together at a small café three years earlier, but their lives went in different directions. Though she had rarely seen him since they parted ways, she picked up the phone and punched in his number.

“I’d always loved Ryon, and he was the first person I wanted to call,” explains Laurie. “He knew from my voice that it wasn’t good news.”

Ryon appeared on her doorstep the next day, leaving his apartment and job behind, and he was at her side at a major Los Angeles-area hospital where surgeons fused the bones in her neck.

“Doctors gave her just two years to live,” says Ryon, who, searching for a way to counter the bleak prognosis, decided to propose marriage. “I really believe it was our love that helped Laurie make it through that first surgery.”

By the time they were married in 2003 the rate of her bone loss had slowed. Except for periodic emergency room visits and the chronic pain she suffered, they lived a fairly normal life for a while.

They also got a better understanding of the enemy they faced when an oral surgeon finally identified the mysterious disease—a decade after the original onset of Laurie’s pain. Gorham-Stout syndrome, also known as vanishing bone disease, is characterized by the body’s inability to normally regenerate bone. It also is associated with the formation of painful, fluid-filled tumors, a condition related to lymphangiomatosis. Bone deterioration can start, stop and start again and travel to adjacent structures, resulting in profound disability and even death.

“When I read the symptoms, they fit me to a T, and I realized what I had experienced for so long suddenly made sense,” Laurie remembers. “It was a relief to know but, at the same time, I realized it was going to be a struggle in the years ahead.”

Laurie defied the two-year survival predictions but experienced a major setback and a new round of treatments in 2008. Eventually, her oncologist arranged for her to try a new type of chemotherapy, but at the last minute she opted out. A week later she discovered she was pregnant. “Ecstatic but terrified” at the prospect of this surprise and potentially high-risk pregnancy, Laurie and Ryon chose to proceed despite the odds. Sky Meadow was born premature but healthy at 4 pounds, 8 ounces on September 28, 2009.

The new year brought another series of medical crises. Laurie’s spine collapsed and she was rushed to an emergency room. When Ryon walked into his wife’s hospital room, he saw her head resting on her shoulder. “As soon as I saw her I knew that her neck was broken,” he recalls. The bones had literally crumpled under the weight of her skull.

She lay helpless in a hospital bed—neck broken, arms limp and useless, and voice muted by tubes that kept her alive. Pressure on nerves in her neck and shoulder triggered intense pain and paralysis in her arms. Normally petite, at little more than 100 pounds on a 5-foot-2-inch frame, Laurie had dropped to 85 pounds. Holding her baby was out of the question, and her doctors gave up hope.

In desperation, an aunt called her neurologist, Hart Cohen, MD, at Cedars-Sinai, who put her in touch with Cedars-Sinai neurosurgeon and spine deformity specialist, Dr. Frank Acosta.   By that afternoon, family members were rushing X-rays to his office for review.

Dr. Acosta asked neurosurgeon J. Patrick Johnson, MD, to assist with the surgical plans and procedures.  Both had encountered many complex cases, but had never seen anything like Laurie's case before. Fusion surgery depends on bone growing across the hardware that is placed along the spine so the bone loss of Gorham-Stout syndrome presents a challenge. 

During two complex surgeries, the neurosurgeons repositioned an existing plate and extended the previous fusion with rods along the thoracic spine, anchoring the hardware in solid bone. They also adjusted disk spacing between two vertebrae and placed a protective plate over the hardware. After a week’s recovery, Laurie went home with a virtually rebuilt upper spine and 36 staples in her head and back.

While there is still no cure for Gorham-Stout syndrome, Laurie remains optimistic. She has regained a good deal of arm and hand function and she continues to progress in her recovery. She is back up to weighing nearly 95 pounds and full of energy. She has started driving again, and is working hard in physical therapy to increase her upper body strength and mobility. She improves almost weekly and is now able to lift up 20-pound Sky by herself.

“I have this beautiful little treasure and she’s all the motivation I need,” says Laurie. “I already feel so blessed—every little accomplishment is simply a bonus.”