News & Observer | newsobserver.com | Duke doctors offer a sliver of hope

Published: Apr 21, 2008 12:30 AM
Modified: Apr 22, 2008 06:36 AM

Duke doctors offer a sliver of hope

Parents learn that transplant can save their daughter

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Part 1: James and Zelene Turner learn that their baby has a potentially fatal flaw.

Part 2: Only one place can help Jayla -- Duke University Medical Center.

Part 3: Time and again, a promised transplant is a false alarm. And time is running out.

THE REPORTING

This story was reported through interviews with family, doctors and experts. In some cases, reporter Jean P. Fisher was present to capture dialogue; in others, it was re-created through interviews.

THE SYNDROME

DiGeorge syndrome is an immune disorder caused by abnormal development of certain cells and tissues during the growth and development of a fetus.

HOW COMMON IS IT? As many as 1 in 4,000 babies are born with DiGeorge syndrome, though many have very mild symptoms that improve or even disappear with time. The most serious form, complete DiGeorge syndrome, is seen in fewer than 10 babies born in the United States each year. Such babies are born without the thymus gland, which is essential to the development of the immune system.

WHAT CAUSES IT? Sometimes it's genetic, caused by a small deletion in a specific part of chromosome No. 22. In about half of patients, though, there is no known cause.

WHAT ARE THE SYMPTOMS? They vary, and even the severity can be different. The primary symptom is a low-functioning or absent thymus gland, which increases susceptibility to infection. Heart defects, blood calcium deficiency and distinctive facial features such as an underdeveloped chin and heavy-lidded eyes are often present.

WHAT IS THE PROGNOSIS? It depends on the symptoms and their severity. Babies with serious heart defects typically need surgery.

Those with calcium deficiency must take medicine to prevent seizures. Infants with low-functioning thymus glands often see T cell function improve with age. Those with no thymus, however, face a dire outlook; defenseless against infection, they often die before the age of 2.

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Second of three parts

Zelene and James Turner were reeling as they spoke with the immune specialists at Duke University Medical Center in Durham. The doctors took one look at the Turners' daughter Jayla, who was born in June and was now a little more than three months old, and knew instantly what sophisticated blood tests would later confirm.

Jayla had the most dire form of DiGeorge syndrome -- a rare congenital immune disorder. She could well die before age 2.

But there was also hope.

Dr. Louise Markert, a Duke immunologist who specializes in treating DiGeorge syndrome, told the couple that Jayla's missing thymus gland, which is essential for building an immune system, could be replaced with a transplant. Donated thymus tissue could help Jayla generate T cells that fight infections. And Jayla would likely do well, because she didn't have heart defects or many of the other serious complications associated with the disorder.

Markert, who developed the transplant surgery in the early 1990s and is the only person in the world who does it, told the Turners she had done about 50 transplants in babies with complete DiGeorge. Her first patient is now a 14-year-old ninth-grader.

Through her tears, Zelene Turner snapped to attention.

Nothing she had read or seen about DiGeorge had mentioned thymus transplants. And here was Markert offering what sounded like a cure. Turner was ready for Jayla to have the surgery that day.

"Where will you get the thymus?" she recalls asking Markert. "Do you need mine, or my husband's? Could one of her sisters be a donor?"

But it wasn't that simple.

Immunity jump start

The thymus, which actually begins its work training T cells while the fetus is developing, is largest and most active in newborns. As a healthy person ages, the gland, near the heart, continues to train T cells to attack germs and other invaders, but it slowly shrinks in size. For Jayla to develop a strong immune system, Markert said she needed thymus tissue from an infant, preferably one no older than nine months.

Unlike most transplants, the tissue could be recovered from a live donor -- typically a baby who needed heart surgery -- because surgeons must cut through the thymus gland on the way to the heart. Infants with normal thymus glands don't miss the tiny amounts that are taken out. But the thin slivers are enough to jump-start the immune system in a baby with DiGeorge.

Markert said she would implant the slivers of tissue in Jayla's thighs, which are among the largest muscles in an infant's body. As a result, the tissue would be sure to have a good blood supply, providing the donor graft with oxygen and nutrients and carrying the white blood cells to the thymus for training.

Duke does dozens of infant heart surgeries every month, so finding donor tissue would not be hard, Markert assured the Turners. But the transplant could proceed only if tests showed the tissue was free of illness that might endanger Jayla.

Markert told the Turners that getting a suitable thymus for Jayla was her job. Their job, she said, was to keep Jayla healthy enough to get a transplant.

That would mean the Turners, with two active older girls at home, would need to keep their home a virtual bubble, free of pathogens -- even common cold viruses -- that could kill their baby girl.

Expense is a hardship

With medicine from the Duke doctors that cleared Jayla's scaly, oozing skin -- the result of her faulty immune system -- Zelene and James Turner could finally see what their child looked like. She was a carbon copy of her older sisters, with dark, sparkling eyes. Despite early difficulty gaining, Jayla was now at an average weight for her age with plump, round cheeks.


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Jean P. Fisher left The News & Observer after completing this series. To comment, contact Sarah Avery at (919) 829-4882 or sarah.avery@newsobserver.com.

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