Posted at: 01/16/2014 7:03 PM
By: Benita Zahn
What do you do when the doctors tell you, your baby has a genetic disorder so rare, there are only 200 cases, worldwide?
For a Troy couple, it was a call to action.
“I just take her on terms of who she is today,” says Hillary Savoie.
Learning to live in the moment, Savoie, is one of the blessings of having a child like Esme.
The three-year-old is one of an estimated 200 females, world wide, diagnosed with the genetic disorder - PCDH19 - Female Limited Epilepsy.
“Intractable epilepsy or drug resistant epilepsy, the seizures associated with this form of epilepsy tend to be cluster seizures,” says Savoie.
Before being diagnosed Esme would suffer dozen or so seizures within 24 hours. The seizures started at 10 months but at birth it was clear something was wrong. She was limp, blue and not making sounds. It took two years to get the diagnosis.
“When she was just a couple weeks old. I told her that the doctor suspected Esme had a syndrome, she said ‘Oh yeah, of course Esme has a syndrome. She has the cute syndrome.’” says Savoie. The moniker stuck.
Hillary began blogging about their journey. It helped her develop a sense of community and others could better understand their family. Once Esme was diagnosed, Hillary and her husband Andre kicked it up a notch, forming the Cute Syndrome Foundation raising money for research. The giraffe patterned ribbon is their symbol.
“Our first $50,000 that we've raised is going toward a medical research grant that we're co-funding with a foundation in Italy,” says Savoie. “All indications suggest that now that this gene has been identified and the test is more commonly available that large and large numbers of people are going to be found to be carriers of this disorder.”
Savoie says she routinely gets calls from families searching for information.
“We just take it day by day because if you start to look too far in the future it gets a little too frightening.”
Savoie points out, there's a range of severity for this condition. Esme has been hit hard - but there may be others much less affected.
For more information on Female Limited Epilepsy or the Cute Syndrome Foundation, please click here.