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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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