Heterotaxy Syndrome: Laila's Story

Watching 12-year-old Laila Kramer dribble a soccer ball down the field, no one would guess that she’s ever been anything but healthy.

From the outside she looks like any other seventh grader, but her family knows how extraordinary she is inside: Laila was born with a rare birth defect called heterotaxy syndrome, in which many of her internal organs are reversed from their normal positions. 

For example, almost everyone’s stomach is on their left side, but hers is on the right. Heterotaxy is so unusual, it only affects four in every million births; more unusual still is that although most cases require major heart surgeries in infancy or early childhood and lifelong care, Laila’s condition wasn’t discovered until she was 8 years old.

Liver symptoms led to unexpected discovery

In January 2008, Laila’s mother, Julie, noticed a yellow tinge to Laila’s skin, which also was severely itchy. Their pediatrician told her to take Laila to the hospital immediately — these were the classic warning signs of a liver problem.

At a hospital near the Kramers’ Port Washington, NY, home, doctors tested her for everything from hepatitis A to a range of serious autoimmune diseases. A sonogram led them to the startling discovery that Laila’s organs weren’t where they were expected to be.

Doctors also found a choledochal cyst, another rare congenital abnormality that enlarges the bile duct and can lead to cancer. In many people, this cyst could be removed with minimally invasive surgery, but with Laila’s organs reversed, this was not an option. The surgeon recommended an immediate operation that would involve six of her organs.

Serendipitously, the original symptoms, which led to the initial prognosis, subsided. This allowed Laila’s parents to seek a second opinion. They also asked for a third opinion, and a fourth.

“I’m very much a research person,” Julie says.

Meanwhile, Laila continued going to school and living a normal life.

Then in May, she contracted a serious liver infection that established the urgency of her condition and the need for medical intervention. Julie continued her research, expanding her search to liver centers around the country. She recorded every appointment with doctors, transcribed their conversations, and filled two binders of notes.

Finding CHOP experts

Two months later, Julie’s search led to David Piccoli, MD, chief of the Division of Gastroenterology, Hepatology and Nutrition and director of the Fred and Suzanne Biesecker Pediatric Liver Center at CHOP. He introduced her to Alan Flake, MD, attending surgeon in the Division of General, Thoracic and Fetal Surgery and director of CHOP’s Center for Fetal Research — and Julie knew immediately, “This is our guy.”

It was more than just a mother’s intuition; as a registered dietitian Julie had worked in hospitals, and she was instantly impressed with Dr. Flake’s manner and the way he explained Laila’s condition.

Surgery involving six organs

From there, things moved quickly. On Aug. 1, during an 8-hour operation involving six organs — and complicated by the fact that they were all reversed — Dr. Flake meticulously removed Laila’s bile duct, her gall bladder, and her appendix, then used her small intestine to reconstruct the bile duct.

After recovering in the Hospital for six days, Dr. Flake gave Laila an excellent prognosis. The family continues to travel from New York every year for a check-up, because they wouldn’t want any other doctor following her.

“To us, he’s a rock star,” Julie says. “People would say, ‘You have everything you need in New York. Why would you leave?’ But the care at CHOP was a whole other level, especially the ancillary care. And the nurses are incredible!”

Supporting CHOP research

Laila is comfortable with the fact that she’s different from other people, but she hasn’t talked about her experience much until now. Soon all of her friends will know about her unusual anatomy and the amazing surgery that saved her life.

Inspired by her older brother, Ari, who in 2010 asked for donations to CHOP in lieu of gifts for his bar mitzvah, Laila made the same request for her bat mitzvah in 2013. She wants the money to go to Dr. Flake’s pioneering research efforts to cure sickle cell disease before birth.

“She’s definitely a miracle,” Julie says, “and I feel indebted and incredibly grateful to CHOP. Incredibly grateful.”