Daughter's death spurs mom to spread word about rare syndrome

Julie Giles of Newton was awaiting the birth of her fifth child with great excitement and anticipation.

But when the happy day arrived, Giles came to realize something was not right.

Her daughter Jaelah had trouble swallowing and could not nurse. She had to have a feeding tube inserted.

She took her tiny 10-day-old daughter to a geneticist in Kansas City and found out the tragic news.

Jaelah had a non-inherited, genetic disorder called Cornelia de Lange Syndrome.

The disease is rare, afflicting only one in every 20,000 children. Giles said Jaelah was the only child to ever be born with the condition at Newton Medical Center.

“At first, everyone was hush, hush about it,” Giles said. “I assumed I’d have to raise her differently and address different needs than my other children.”

Giles is trying to raise awareness about the disease, especially this week as a foundation dedicated to the illness celebrated Cornelia de Lange Awareness Week.

The disease is a mutation in the third and fourth genes and affects all races and ethnicities.

The disease puts children at risk of a host of complications, including developmental delays, feeding difficulties and physical abnormalities, such as small hands and feet, and small stature and head size.

Some have heart conditions, and 85 percent have acid reflux.

Some children have limited speech, and some don’t talk at all.

Giles’ daughter died at the age of 2 years and 8 months from acute bronchial pneumonia.

Since her daughter’s death two years ago, Giles has teamed up with the Cornelia de Lange Syndrome Foundation to help bring awareness of this rare and often misdiagnosed disease.

Early intervention is key in helping children with the syndrome, Giles said.

The foundation provides family support, medical and professional consultations and outreach to families affected by the disease.

Giles, who was a surgical technician, quit her job to stay home with Jaelah after she was born. Her daughter needed round-the-clock care, but Giles found it difficult to find quality nursing care for her.

She took most of the burden for caring for her daughter on herself.

“My living room looked like a mini ICU,” Giles said.

Giles admits it was difficult for her family, especially her husband who took on most of the responsibility for raising her other four children.

Despite a fleet of doctors and medical equipment in the Gileses’ home, their daughter could not be saved.

Julie said she looked healthy right up until her death.

“I think (her death) affected me more so,” Giles said. “I was her caretaker. It changed my life. My kids say I am a different person than I was before. I think they are right.

“I was the one who found her (when she died). I have had problems with that. I had everything there to save her, and I couldn’t.”

Now, Giles thinks helping other families deal with the diagnosis and learn about the resources available will help her deal with her grief.

There are varying degrees of the syndrome.

Life expectancy can vary greatly from children who never make it out of the hospital to one man with the disease who lived to be 76.

Parents may not suspect there is a problem until their child begins missing developmental milestones, Giles said