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by Cindy A. Abole, Public Relations

Fate brought 16-month old Sijia to pediatric endocrinologist Dr. L. Lyndon Key four months ago. Sijia suffers from osteopetrosis, a rare congenital bone disease.

It started with an e-mail, a cry of help from halfway around the world.

A loving uncle pecked out the words on a keyboard in south China. Speaking for his sister, Wang Zhong Qui apologized for disturbing a universe with a simple plea: “Give us a chance to save our baby.”

That anguished plea pierced the sky as it was sent into a worldwide audience of Internet surfers. Soon it hit its target dead center, seizing the hearts of a growing number of compassionate people.

It was punched into the system in May 1998. By January, 13-month old Sijia was admitted to MUSC’s General Clinical Research Center to begin a long-term effort to overcome osteopetrosis, one of the world’s rarest bone diseases.

For the next year, little Sijia will be in the hands of L. Lyndon Key, M.D., director of pediatric endocrinology and MUSC’s General Clinical Research Center (GCRC), host family John and Yi Ling Pittman, interpreter and researcher Su Yang, Ph.D., Department of Pediatric Endocrinology, and a parade of others.

Sijia has already won the hearts of the MUSC clinical staff.

Upon her arrival in January, the small-framed Sijia, whose puffy face and bulbous eyes glistened with tears as she responded to the effects of a high fever following an 18-hour plane ride. Her round, protruding belly was evidence of the disease’s initial affects on her body’s blood-producing organs. The child was unemotional as she clung to the security of her mother’s arms as she was continuously greeted by strangers.

Sijia was three-months old when her mother, Wang Feng, realized that something was wrong with her daughter. The baby remained pale in color and grew slowly compared to other children her age. Her mother brought her to doctors, who confirmed that the child suffered from osteopetrosis, a severe congenital disease that causes excessive bone growth. Left untreated, this rare bone disease frequently results in death from infection or bleeding.

In her homeland, doctors could do nothing more.

Because osteopetrosis affects bone cells or osteoclast, it prevents bone resorption, resulting in dense but fragile bones.

For children, the results can be more dramatic. Because of the presence of few blood cells, other organs like the spleen and liver, take over blood production, that enlarges those organs. Patients usually stop growing by age 8 or 10.

In desperation, Feng allowed her brother, Qiu, to broadcast an Internet message for assistance to physicians and specialists around the world. By May, a message reached the desk of Charlene Waldman of the Paget Foundation in New York City. The foundation is concerned for the treatment of bone and related disorders.

The Paget Foundation is a voluntary health agency that provides information on bone disorders and physician referrals. Waldman responded to Qiu’s note, referring the family to Key, a world-renowned endocrinology specialist.

“Dr. Key and his staff’s contribution to this daunting task made a dream a reality after so many months,” said Waldman. “Sijia’s presence in the United States shows how perseverance and determination has paid off.”

By July, Key responded to their e-mail asking for Sijia’s X-rays and answering questions. For further reference about the disease, Key suggested they read about his treatment successes using recombinant interferon gamma therapy, published previously in a New England Journal of Medicine entry.

He ended his note with a simple, yet encouraging statement: “I am dedicated to saving the lives of these children.”

Holding onto their last dream of hope, Feng agreed to bring Sijia to MUSC, leaving the security of a brother, a husband and an older daughter behind.

Key pioneered osteopetrosis treatment with calcitriol, an active form of vitamin D. He uses interferon gamma-1b to stimulate the growth of osteoclast or white blood cells. Its effect will promote bone resorption and increase bone marrow space, especially in bone space areas housing the optic nerve.

Left untreated, patients can become blind or anemic or die before 6 months of age. Patients are also prone to frequent infections, neurological defects or bone marrow failure.

“This drug is not a complete cure,” Key said. “It helps in stabilizing the patient.”

Since her arrival to Charleston, Sijia has responded well to her clinical care and new surroundings. She was initially treated for an infection and dehydration upon her arrival. Following the removal of her spleen in January, Sijia began interferon treatments with Key. This gives mother and child a chance to establish some normalcy in this year-long ordeal.

“There have been so many kind hearts associated with Sijia’s story,” said Gail Horinbein, clinical social worker at MUSC Children’s Hospital. “The staff of the General Clinical Research Center has been especially helpful.”

That outpouring of support came almost immediately. Following a psychosocial assessment, Horinbein helped identify ongoing volunteer support. In December, she contacted Beverly Gabriel of the Charleston Rotary Club regarding Rotary’s Gift of Life program, an assistance program for needy pediatric heart patients.

First established in 1986, Gift of Life has assisted more than 49 children worldwide by providing host families for brief stays and other necessities.

On behalf of the program, Gabriel organized a collection of baby clothes and other items, and lined up two host families for Sijia and her mother during their stay.

Even the clinical staff were involved in helping Sijia. GCRC nurses Tim Hushion and Debbie O’Rear were among the first to donate baby items. O’Rear enlisted 11 girls from Lowcountry Girl Scout Brownie Troop 42 in supplying clothes and toys for Sijia as part of their community service project. The act was coordinated with Girl Scout Thinking Day, a reflection day for scouts which also focuses on international friendship.

“The girls were just thrilled to be helping,” O’Rear said. “They’ve been very concerned for Sijia. It’s been a good learning experience, especially as they understand the hardships associated with medical treatments.”

One obstacle that has evolved positively within this East-meets-West relationship has been language. Sijia’s family hails from south China where Mandarin Chinese is the common dialect. As efforts to bring Sijia to America began, the challenge of language and paperwork became an increasing problem.

Key enlisted the aid of fellow researcher and instructor Yang, who is native to the southwest province of Sichun, China. Yang stepped into the role of interpreter in November to help coordinate visas and other necessary paperwork. She still serves as interpreter during hospital visits and other opportunities.

On Jan. 6, Yang’s husband, Yizhong Zhang, a researcher in pediatric cardiology, escorted the pair from Guangzhou, China to the United States. “It's our pleasure to have an opportunity to help this patient and fellow countryman,” said Yang.

Key, left to right, confers with several members of Sijia’s clinical care team: pediatric resident Dr. Leslie Howard, patient coordinator Maryanne Haynes, and pediatric endocrinology researcher Dr. Su Yang.

Key is one of many specialists and clinical investigators who uses the GCRC facility for their work. A National Institutes of Health clinical research facility, the center serves special needs with its own diet kitchen, laboratories and outpatient facility.

“We look at the overall care of the patient versus the survival rate,” Key said. “It helps parents and patients learn to live with the disease.”

This metabolic bone disorder affects people of all cultures. Both parents carry a “silent” gene for the disease, which eventually develops in their children. It affects a variety of ethnic groups. For several decades, Key has treated childhood osteopetrosis among 70 Caucasians, African Americans, Hispanics, American Indians, Polynesians, South and Central Americans, Europeans, African and Middle Easterners.

Other successful therapies include a bone marrow transplant, which replaces abnormal osteoclast with normal white blood cells and active osteoclasts. Experts agree that the bone marrow transport is a preferred form of treatment for this disease because of fewer complications and a higher survival rate of 40 to 70 percent, depending on the quality of match.

Sijia may have a chance with a bone marrow transplant. Key is currently working to coordinate a bone marrow screening for Sijia’s eight-year old sister, who lives in China.

“Physicians at MUSC are willing to get involved,” said Key. “We’re ready to treat patients other than treating just the disease. Usually, this may require special treatments.”

Sijia shares some humorous moments with Matthew, center, and Joshua, sons of Yi Ling and John Pittman of James Island. Working through Rotary’s Gift of Life Program, the Pittmans have volunteered as a host family.

Mother and child live with James Island residents John and Yi Ling Pittman. Mrs. Pittman, who was born in southwestern China, speaks Mandarin and plans to bring her family to her homeland this summer as part of a mission trip with James Island Baptist Church. In May, Sijia and her mother will be the guests of Sunny and Samuel Steinberg.

“It's been a blessing for all of us,” said Pittman, who has three sons ages 7, 10 and 12. “My children have learned a lot about helping people in need.”

Gale Horinbein, right, presents volunteer host Sunny Steinberg with a car seat, one of many donations collected by MUSC hospital staffers and Lowcountry community groups. Steinberg has provided transporation support for Sijia and her mother to scheduled appointments.

Horinbein also tapped other community support from the St. Vincent de Paul Society at St. John’s Catholic Church, Summerville, and the Chinese Association of Greater Charleston. The Chinese association, composed of 200 registered members, represents Tri-County Chinese professionals, scholars, students and their families. Volunteer members have provided Sijia with continued spiritual support through hospital visits, interpreting and other assistance.

“Helping MUSC researchers and students over the years has been a great opportunity for all of us,” said Deyi Zheng, club president. “Providing that same quality of support for this mother and child has been inspirational.”

L. Lyndon Key Jr., M.D.

Interests and Specialties:

• pediatric bone disorders and diseases, growth hormone deficiencies, morbid obesity, pediatric endocrinology, precocious puberty and diabetes

Education and Appointments:

• B.A., University of North Carolina-Chapel Hill (1973)
• M.D., University of North Carolina-Chapel Hill (1977)
• Internship, Duke University (1977-78)
• Residency, Duke University, Pediatrics (1977-80)
• Fellowship, Boston Children’s Hospital, Pediatric Endocrinology (1980-81)
• Research Fellow, Harvard Medical School (1981-83)
• Professor, Pediatrics-Endocrinology, MUSC (1994) q Associate Professor, Pharmacology, MUSC (1994)
• Program Director, General Clinical Research Center (1993)

Professional Memberships:

• American Academy of Pediatrics
• The Endocrine Society
• American Society of Bone and Mineral Research
• International Society for Bone and Mineral Research q National Cooperative Growth Study Advisory Board
• Pagets Disease Foundation, Advisory Medical Panel and Grant Review Committee

Awards:

• Mitchell I. Rubin Research Award, MUSC q Listed, “Best Doctors in America”
• Listed, “America’s Top 1,000 Doctors,” National Health Magazine q 100-plus articles in peer-reviewed journals and book chapters q 60-plus abstracts, pediatric endocrinology
• 19 extramural/intramural research grants

Guiding hand delivers best of care

Pediatric social worker Gail Horinbein has played an instrumental role coordinating help for Sijia.

For every turn of events in Sijia Feng’s journey to Charleston, inpatient social worker Gale Horinbein has been a reassuring beacon of hope.

Horinbein, who is assigned to support patients in the General Clinical Research Center (GCRC), has played an integral role in managing Sijia’s care. She began wearing the hats of coordinator, communicator, educator, advocate and general majordomo for Sijia even before the child’s arrival in January.

“Gale has been a tremendous help in Sijia’s efforts,” said Maryanne Haynes, patient coordinator for osteopetrosis research “Gale’s always finding some way to help or identify new resources to assist patients.”

Horinbein, who has 20 years experience in social work, assists patients under the care of L. Lyndon Key, M.D., director of GCRC.

Social workers provide a wide scope of services for patients and families. Their focus is to consider a patient’s needs and other health care issues. Often these demands extend their time beyond a regular work day, sometimes extending their support to weekends.

“Gale provides a lot for all our patients,” said Tim Hushion, a nurse working at the Research Center. “Without her, we couldn’t provide the type of high quality care and clinical experience patients like Sijia require,” he said.

Besides working with Key, Horinbein covers a large territory handling patient care issues in the pediatric intensive care unit, pediatric cardiology and as coordinator of Suspected Child Abuse and Neglect.

“MUSC is a specialized hospital that provides services for chronically ill patients,” said Aundria Douglas, clinical inpatient social worker with Outcomes Management and Research and Development. “Sijia’s case was extraordinary. Not only was Gale handling a case of a displaced child and her mother, she was working with clients of a whole different culture. That presents a new set of issues for care.”

Sijia arrived at MUSC with a high fever and onset complications from her osteopetrosis disease. Her first two weeks in America were under the direct care of Key and the Research Center staff.

Although Key has treated dozens of international patients with this life-threatening disease, many come to MUSC with a stable degree of economic assistance and family support. Sijia’s situation challenged staff members and volunteers lost through language and other cultural constraints.

After conducting a psychosocial assessment, Horinbein recognized that the family had multiple needs. They had no place to live, no transportation, no personal or baby items, limited clothing and no funds. But Horinbein discovered an abundance of love and devotion in the young mother who cared deeply for the welfare of her child. So much so, that she was willing to give up her child for adoption if it meant life for Sijia.

Horinbein quickly cast her net into a community of contacts to find language interpreters, caretakers and providers who have come to Sijia’s aid.

So far, she has organized donations and assistance from MUSC nurses, staffers, community organizations such as the Rotary Club of Charleston, Lowcountry Girl Scouts, St. Frances Home Health, area churches, social workers and professional counselors.

Sources helped contact the Kimberly-Clark Corporation, who provided several cases of Huggies diapers. Other contacts helped Horinbein collaborate with BabyNet, a community support organization that provided therapy support, donated baby food, a phone card and transportation.

Her resourcefulness has collected a baby crib and crib accessories, towels, linens, baby clothes, toys, formula, medication, coupons, phone cards, toiletries and other necessities for Sijia and her mother.