Girl's rare illness changes everything

Old Saybrook -At six weeks old, Avery Rose Leopoldino was having at least five violent seizures a day.

Her body did not develop normally. She had trouble gripping toys like other children. Eventually, her parents, Mark and Kristin Leopoldino, noticed that she could not see.

Worse, no doctor could tell the Leopoldinos what was wrong with their daughter.

It would be nearly two years before they learned that Avery had CDKL5, a genetic disorder diagnosed in only about 200 children worldwide. It is believed she is the only child in the state diagnosed with CDKL5.

"That first year of her life was kind of like a blur," Kristin Leopoldino said. "We were bringing her to every doctor we possibly could, asking, 'What is wrong with her?'"

Last April, Dr. John Pappas finally had the answer.

A geneticist at New York University's Langone Medical Center, Pappas diagnosed Avery, now 2 years old, with CDKL5 after a number of tests. It was the first time Pappas had made such a diagnosis, according to Kristin Leopoldino.

The Leopoldinos learned that CDKL5 is linked with the X chromosome, making it a disease suffered mostly by young girls. It results in difficulty in controlling seizures and neuro-developmental impairment, according to the International Foundation for CDKL5.

Avery's condition has led the Leopoldinos to help raise money and awareness for CDKL5.

The Board of Selectmen designated today as Rare Disease Day, backing a global initiative.

In an interview at their home on Sunday, the Leopoldinos also shared how Avery's diagnosis has changed their daily lives. The couple, who are both 41 and have another daughter, Morgan, 9, sleep with Avery's crib about 4 feet from their bed in their first-floor bedroom.

This allows them to wake up when she has a seizure. A number of therapists and teachers visit the Leopoldino home most days, and Avery regularly sees about 10 different doctors.

Kristin Leopoldino, who has worked as a special-needs educator at Waterford Country School, said her daughter needs to be watched every second and will never function independently. She acknowledged Sunday afternoon that she is not sure that she'll be capable of caring for Avery as she grows older.

As Kristin Leopoldino shared this fear, Avery was upstairs in the Leopoldino home with her grandmother, suffering another seizure.

"Even my schooling, all my experience, nothing prepared me for this," Kristin Leopoldino said.

That said, the community is making sure the Leopoldinos are not alone in raising awareness for CDKL5.

A local Boy Scout troop is organizing a can and bottle deposit fundraiser, according to Public Works Director Larry Bonin. An event on Super Bowl Sunday at Bills Seafood in Westbrook, where Mark Leopoldino is the general manager, raised money and awareness.

And a yet-to-be-determined fundraiser is being planned for May at the Katharine Hepburn Cultural Arts Center, Bonin said.

In joining with the Middlesex Community Foundation, the Leopoldinos recently helped create the Avery Fund. So far, about $60,000 has been raised for CDKL5, according to Mark Leopoldino.

The family hopes that raising awareness will help other families avoid the two-year period of uncertainty that they endured.

"(After the diagnosis) we knew instantly that life was changing for us and for Avery," Mark Leopoldino said. "We had to tighten our belt straps and turn the fight up a notch for Avery and the other girls with CDKL5."

jeff.johnson@theday.com

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