Newswise — Laurie Harms, Los Angeles, feared she’d never hold her infant daughter, Sky, again. A devastating and extremely rare bone-eroding disease – Gorham-Stout syndrome – had left the 31-year-old crumpled in a hospital bed – her neck broken, arms limp and useless, and voice muted by tubes.
She had endured nearly two decades of pain, her condition was worsening quickly, and four neurosurgeons had already given up when Laurie came to Cedars-Sinai Medical Center in Los Angeles last March.
When she arrived, “Laurie’s head had already collapsed over her shoulder because of the bone loss in her neck. We couldn’t send her home like that,” said neurosurgeon Frank Acosta, M.D., director of spine deformity in the Department of Neurosurgery at Cedars-Sinai. In what he describes as a “last resort,” a surgical team painstakingly rebuilt her spine – a major milestone on a medical odyssey that included a decade-long search for an accurate diagnosis.
Only 200 known cases of Gorham-Stout syndrome have been documented worldwide. Also known as Vanishing Bone Disease, the disorder is characterized by the body’s inability to normally regenerate bone and the formation of painful, fluid-filled tumors. Bone deterioration can start, stop and start again and travel to adjacent structures, resulting in profound disability and even death.
“Other doctors told us they couldn’t do anything, that nobody could help her,” Laurie’s husband, Ryon, recalled. “Without even knowing us, Dr. Acosta agreed to help, and suddenly we had hope. I think he’s the only doctor in the world who could have saved her.”
Laurie was 13 when she began to experience progressively debilitating pain in and around her left ear. Doctors first dismissed the symptoms as an ear infection or muscle spasm, but after years of emergency room visits, a CT scan revealed disintegration of the bones in her neck and an unknown mass or tumor.
As her condition continued to deteriorate, Laurie’s father sent her scans to several major medical institutions across the country. What he learned was that Laurie essentially had a broken neck and needed a bone fusion as soon as possible. In September 2002, when Laurie was 22, she underwent a spinal fusion at a major Los Angeles area hospital, and although the surgery seemed successful, the doctors did not expect her to live more than two more years, Ryon said.
Even so, after the operation Ryon whispered a marriage proposal into Laurie’s ear, she emphatically accepted, underwent radiation therapy in 2002 and they wed in 2003.
The rate of her bone loss had slowed and they lived a semi-normal life for a while despite Laurie’s chronic pain due to tumor flare-ups and periodic emergency room visits. They also began to get a better understanding of the enemy they faced, because shortly thereafter, a decade after the onset of Laurie’s ear pain – an oral surgeon finally identified the mysterious disease as Gorham-Stout syndrome.
Laurie defied the doctors’ two-year prediction, but in 2008 she experienced a flare-up which blocked her airway and lead to a tracheotomy and another round of radiation therapy. In addition to the painful symptoms, she was undergoing several intense and painful treatments when the couple discovered that Laurie was two months pregnant.
“Ecstatic but terrified” at the prospect of this high-risk pregnancy, the couple contemplated their options and chose to move forward despite the odds. Laurie actually felt better than ever during those months and Sky Meadow was born premature but healthy at 4-1/2 pounds on Sept. 28, 2009. But the couple’s elation over Sky’s birth was soon overshadowed by a recurrence of Laurie’s symptoms, and she was admitted to a hospital in early 2010.
On March 8, when Ryon walked into his wife’s room, he saw her head resting on her shoulder. “I knew as soon as I saw her that her neck was broken,” he said. The bones had literally collapsed under the weight of her skull.
Pressure on nerves in her neck and shoulder triggered intense pain and paralysis in her arms. She developed an infection, and at one point nearly died from anaphylactic shock – saved by her sister, Cammie Flores, an emergency room nurse, who was with her at the time. Before long, Laurie could do nothing but lie across the hospital bed, and it appeared that nothing more could be done for her. “They wanted to send her home to die,” said Ryon.
In desperation, an aunt called her neurologist, Hart Cohen, M.D., at Cedars-Sinai. She was put in touch with Acosta, a spinal disease and deformity expert, and by that afternoon, family members were rushing X-rays to his office for review.
“Dr. Acosta called us the next morning – a Saturday – to tell us he thought he could help Laurie. It was the most amazing feeling because all of a sudden we had hope,” Ryon recalled. “As soon as we arrived at Cedars-Sinai, it felt like a totally different experience,” he added. “Dr. Acosta has a very peaceful presence, he truly was heaven sent.”
“This was a very tough case, but I felt we could do something for Laurie,” said Acosta, who asked J. Patrick Johnson, M.D., co-director of Cedars-Sinai’s Spine Stem Cell Research Program, to assist him with both a surgical plan and the procedures. Laurie’s transfer to Cedars-Sinai was arranged, and a team of specialists – oncologists, rheumatologists and neurologists, among them – mobilized to devise a comprehensive treatment plan.
The bone that once secured screws and rods at the back of Laurie’s head had been totally re-absorbed, and hardware from the original fusion surgery was almost poking through her skin. Acosta would need to straighten her neck to take the pressure off the nerves to her arms but with very little bone to work with, this would be a phenomenally difficult task.
On March 24, Acosta and Johnson performed the first of two planned surgeries, opening the back of Laurie’s head and neck to reposition the existing plate and extend the previous fusion. They also extended rods along the thoracic spine to anchor the hardware in solid bone.
The second surgery, on March 30, was performed through the front of her neck to adjust disk spacing between two vertebrae and to place a protective plate over the hardware. After a week’s recovery, Laurie went home with a virtually rebuilt spine and 36 staples in her head and back.
“She continues to do well and is regaining more function of her hands and arms,” said Acosta, who had never heard of Gorham-Stout syndrome before this case. He will monitor her progress and likely perform a third procedure in coming months. “She’s not out of the woods yet – and the bone loss has to be stopped.”
That involves working with her rheumatologist and other medical experts to halt the progression of Gorham-Stout syndrome with drugs that are used to treat osteoporosis, along with any new treatments that look promising. While there is not yet a cure for Gorham-Stout syndrome, Laurie remains optimistic. 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.”