Editor's Note: Go Ask Mom is sharing the stories of two Duke Children's patients during this week's 18th annual MIX 101.5 WRAL-FM Radiothon for Duke Children’s Hospital & Health Center. Click here to read more about Josh.
The seizures started shortly after she was born. When she was two months old, severe rashes ravaged her body, covering her from head to toe in sprawling red splotches. Then baby Jayla started losing her hair and eyelashes.
Terrified and desperate for answers, James and Zelene took their infant daughter to a hospital near their hometown of Hertford, N.C. Doctors told the couple that Jayla suffered from low blood calcium, which can cause seizures, and that her skin problems were most likely a result of an immune deficiency. Later, a chest x-ray revealed that Jayla had been born without a thymus gland. Her body was not able to produce the disease-fighting white blood cells that make up our immune system.
The pieces were adding up to a terrible conclusion. Jayla likely had complete DiGeorge Syndrome – a rare and complex disorder characterized by a variety of symptoms including the absence of a thymus gland. Less than 10 babies are born in the United States each year with this immune disorder. They are defenseless against infection, and sadly, most never reach their second birthday.
Fortunately, Jayla was referred to Duke Children’s, the only place in the world with a life-saving treatment for complete DiGeorge Syndrome. Louise Markert, MD, PhD, pioneered this treatment at Duke Children’s in the early 1990s, and has since performed more than 50 transplants.
She informed the family that a thymus transplant could save Jayla’s life. James and Zelene listened in awe as Dr. Markert explained that portions of the thymus are routinely cut away during heart surgeries in infants. Since the immune systems in those babies have already developed, removing slivers of thymus tissue would not make a bit of difference for them but would make all the difference in the world for babies like Jayla. Once implanted, this tissue generates infection-fighting T-cells, effectively jump-starting the immune system.
Dr. Markert was confident that Jayla would thrive after the surgery because she didn’t have any heart defects or other serious complications sometimes associated with complete DiGeorge syndrome.
James and Zelene felt overwhelmed with joy, gratitude and relief for the possibility of a cure. At the same time, they were consumed with worry and anxiety that the cure might not come soon enough.
While waiting for a suitable thymus, Jayla would have to live in total isolation; the tiniest germ could trigger a fatal infection. Jayla could never leave home except to come to the hospital, and her family had to take extreme precautions when entering and exiting the house throughout the day. Clothing worn during the day had to be changed; hands had to be washed constantly; and their home had to be continually disinfected. At a time when you want to shower your baby with affection, hugs and kisses had become sources of anxiety.
Finally, Dr. Markert called the family and told them that she had a thymus for Jayla. She went into surgery on March 28, 2008 at Duke Children’s.
Dr. Markert and a team of pediatric surgeons worked for hours to transplant strips of thymus tissue into Jayla’s thighs. Then came the waiting. James and Zelene were told that it would be another six months before they would know whether or not the donated tissue was actually producing T-cells. This meant returning to a life of isolation for Jayla and one of constant distress for her parents.
When Dr. Markert finally delivered the happy news that Jayla was producing disease-fighting T-cells, the family exploded with tears of joy.
Today, Jayla has fully recovered. She loves listening to stories read by her father, and she enjoys singing, playing soccer and riding her bike. In 2011, Jayla was selected as the North Carolina Children’s Miracle Network Hospitals’ Champion for her triumph over DiGeorge Syndrome. Jayla is a healthy preschooler, and best of all, hugs now bring only happiness.
Please consider supporting the 18th annual MIX 101.5 WRAL-FM Radiothon for Duke Children’s Hospital & Health Center to help kids like Josh get better. MIX 101.5 morning show hosts Bill Jordan and Lynda Loveland will host the annual fund-raising event on Tuesday and Wednesday with live broadcasts from 6 a.m. to 6 p.m. in the lobby of McGovern-Davison Children’s Health Center. Click here to find out how you can help. (Duke Medicine is Go Ask Mom's sponsor).