PINELLAS PARK — In 2006, Mikayla DeMarco had one wish — a red tricycle like the one she rode in class. That wish was granted by the Kids Wish Network, a national nonprofit that grants wishes to children with life-threatening illnesses.
Beth DeMarco, however, just wanted to know what afflicted her daughter.
After nearly 14 years, with the help of a doctor at All Children's Hospital, she learned that her daughter has a rare disease — so uncommon that only about 1,000 people in the world have been diagnosed with it.
About Mikayla
Mikayla attends Nina Harris Exceptional Student Education Center in Pinellas Park. She likes puzzles. And swimming. And riding her bike. She always seems to smile and never cry.
Born with mental retardation, she also has poor eyesight, weak muscle tone, gingivitis and a host of other ailments. She does not speak, but communicates with hand signals, something her mother calls DeMarco Sign Language.
A few years ago, she had been diagnosed with cyclic neutropenia, a rare blood disorder that cripples the body's ability to fight infections.
With more ailments came more clues for Beth DeMarco, but not the answer to her question.
After her daughter was diagnosed with neutropenia, DeMarco sought help from Claudia Lukas, a hematologist at All Children's Hospital.
For three years Lukas had seen Mikayla for checkups and blood tests. In December, Lukas said she "Googled" some of the symptoms and the same results kept appearing.
"The most interesting part was that one of the symptoms is also described as a cheerful disposition. And I just remember how she would always want to come in and hug you," Lukas said. "She has a very pleasant affect and I thought this must be her."
So Lukas persuaded DeMarco to have her daughter undergo an $8,700 genetic test on Dec. 24, 2008.
Taking the test
After years of waiting, DeMarco was told it would take another 12 weeks to find out what the DNA test would say. She hardly could stand it.
DeMarco called March 20 for the answers. Results were not supposed to be ready for a couple more days, but there they were.
"After three long months of waiting it came back. It was great just to finally get the diagnosis," Lukas said. "And to see how relieved she was in 14 years of not knowing."
Lukas said Mikayla has Cohen syndrome, a rare genetic disorder. Both DeMarco and her ex-husband carried recessive traits for the gene.
Characteristics of the disease included weak muscle tone, near sightedness and distinctive facial features.
Most of Mikayla's traits.
DeMarco looked at pictures of other kids with the disease. They looked like her daughter. Finally she had her answer.
But that did not solve everything.
"We are going backwards through the whole thing," DeMarco said.
Search for support
She is part of the Cohen Syndrome Association, a support group for parents who have children with this disease.
Of about 1,000 people worldwide known to have the disease, only about 100 of the cases were diagnosed with a blood test, like Mikayla.
However, more people could have the disease and not know it.
"We need to get the word out there," DeMarco said. "If it was so easy for my child to have, who is to say there is not another parent sitting around that has a kid with the same symptoms?"
Jared Leone can be reached at (813) 269-5314 or jleone@sptimes.com.
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