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news News Monday, February 26, 2018 Friday, February 23, 2018 7:06 PM - Friday, February 23, 2018 7:06 PM

Rare Disease Day

Kahylie's story

Rare Disease Day

In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. There may be as many as 7,000 rare diseases. The total number of Americans living with a rare disease is estimated at 25-30 million. But what causes these rare diseases? The majority are thought to be genetic, directly caused by changes in genes or chromosomes. In some cases, genetic changes that cause disease are passed from one generation to the next. In Kahylie’s case it occurred randomly and was the first in her family to be diagnosed.

Kahylie was born prematurely with severe amniotic band syndrome (ABS), which occurs when a fetus becomes entangled in fibrous string-like amniotic bands in the womb. These entanglements can restrict blood flow, impacting the baby’s development (, 2018). ABS can cause a number of different birth defects depending on which body part(s) is affected. In Kahylie’s case, ABS most affected her arms and legs, while her heart and lungs were also compromised. Doctors in Belize, Kahylie’s home country, feared that there was not much hope for her. Her parents disagreed and refused to give up hope. 

One night, Jessica and Larry, Kahylie’s parents, saw a television spot about Shriners Hospitals for Children. They quickly called for more information and were immediately referred to Shriners Hospitals for Children in Southern California. Jessica sent Kahylie’s medical history for review, and soon after received a call to confirm treatment was possible – an appointment was made.

Shriners for Children Medical Center Plastic Surgeon, Katherine Au, M.D., examined Kahylie. Kahylie presented with a compressed right hand and a constriction that affected her long finger. After reviewing the medical history and X-rays, Dr. Au recommended a series of intensive treatments, including surgery on Kahylie’s right hand for acrosyndactyly (a fusion of digits), to be performed at Shriners for Children Medical Center and LAC-USC Medical Center. 

The surgery was a success and Kahylie gained the ability to use her right hand. Dr. Au was also able to correct the tightening of her fingers and leg, which eventually allowed her to grasp with her fingers and extend her leg.

Thanks to our great partnerships and other resources, Shriners for Children Medical Center, along with Ronald McDonald House, which provided Kahylie’s family a home away from home during her treatment, were able to relieve worry for this family during one of the most difficult periods in their lives. Shriners for Children Medical Center truly is family centered. Jessica said, “Being more than 2,500 miles away from family and friends back home has been difficult and now more than ever we needed to stay together to help Khaylie fight and Shriners allowed us to do just that.”

Khaylie was given a chance at life again...and the family is extremely grateful to Dr. Au, Shriners for Children Medical Center and Ronald McDonald House Charities for giving their little girl a second chance.