In 2003, Jennifer and Justin Endres were overjoyed to welcome their first child, Jillian, into the world. Jilly, as they call her, appeared to be a healthy, happy baby, who brought a smile to everyone she met. Like every parent they had dreams of the wonderful life that would unfold for her.

When Jilly was about 5 months of age, Jennifer and Justin noticed that something was not quite right with her development. She never cried and was not reaching the same milestones as other infants her age. The Endreses began searching for answers to determine what was wrong. At 17 months old Jilly was diagnosed with Rett Syndrome (RTT).

Jennifer and Justin were devastated when they learned what the disease would mean for Jilly. Jilly would likely never walk, talk or use her hands. Gone were the dreams of ballet lessons, soccer games and high school graduation. These dreams would be replaced with wheelchairs, therapies and doctor visits.

Nevertheless, the young parents were determined to make Jilly's life as full and meaningful as possible. "It was heartbreaking to receive this dreadful diagnosis," Jennifer says, "but we were focused on making Jilly happy and comfortable." Jillian attends a special education pre-school where she receives physical, occupational and speech therapy. In the afternoon Jennifer and Justin work intensively with Jilly. "We have the overwhelming responsibility of bringing the world to our child, for she cannot explore the world on her own. Everything she learns or experiences must be facilitated by other people."

For Jennifer and Justin, one of the most difficult aspects of Rett is how vulnerable their child has become. "If she is in pain she cannot articulate what hurts. If she's frustrated or bored she cannot let us know. These children are completely vulnerable in so many ways, from the simplest thing like not being able to tell us they are hot or cold to the horrors of neglect or abuse," explains Justin. "For now, we try not to imagine Jilly as a teenager or young woman; we take things one day at a time, and on bad days, one hour at a time."

One of Jilly's greatest joys comes from being around others. "Her eyes light up in recognition when she sees her friends and family, and her giggle is infectious," Justin comments. Each day the Endreses pray for a treatment or cure for Rett Syndrome. Justin and Jennifer are passionate family advocates for the Rett Syndrome Research Foundation, raising more than $250,000 for research over the last two years.

The Endreses remain optimistic as new research emerges, and feel that Dr. Bird's reversal study could have a significant impact on children with Rett. "It would be a miracle to witness any of Jilly's symptoms disappear," said Jennifer. "The focus must now turn to translating Dr. Bird's amazing results into clinical applications that will directly impact Jilly and others like her."



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