The Cute Syndrome Foundation Supports Research into PCDH19 Female Limited Epilepsy
The Cute Syndrome's 2013 Annual Report is here!
What does The Cute Syndrome Foundation do?
Simply speaking, we raise money to fund research, facilitate treatment, and raise awareness of rare genetic disorders relating to epilepsy, hypotonia, and developmental delay.
At the moment, our fundraising efforts are focused exclusively on research into, diagnosis of, and treatment for PCDH19 Female Limited Epilepsy (FLE), also known as EFMR, a disorder caused by a genetic mutation on the PCDH19 gene. There are a relatively small number of cases of PCDH19 FLE confirmed by genetic diagnosis in the world. However, PCDH19 FLE (EFMR) is suspected to be much more widespread, effecting as many as 15,000-30,000 patients in the US.
There is very good news, however. There are several researchers who are working on very promising research into PCDH19 FLE (EFMR). We expect updates on some of this ongoing research and will share it here on The Cute Syndrome as soon as possible.
The gene PCDH19 has several characteristics that make it intriguing to scientists, including a rare inheritance pattern, wide spectrum of symptoms, drug-resistant epilepsy, and association with autism. Here at The Cute Syndrome, we feel that an influx of money into this research into PCDH19 FLE (EFMR) could go a long way toward treating this disorder, and others like it...making very real and significant changes in the quality of life for girls, like Esmé, who suffer from the debilitating effects of PCDH19 FLE (EFMR).
What is The Cute Syndrome?
When Esmé was born in January 2011, it was clear to the doctors that she likely had some form of genetic syndrome. At first we didn’t tell many people or investigate the cause--we wanted people get to know Esmé just as a person, not a diagnosis.
When Esmé was about a week old, we told our friend Dana that Esmé’s doctors thought she had a syndrome. Dana looked down at Esmé and said, “Yeah, Esmé has a syndrome: The Cute Syndrome.”
At the time it offered us the comfort that other people would see Ezzy as we saw her: stinkin’ cute and perfect just as she was. Later, as we started to search for a diagnosis and time and time again turned up no answers, The Cute Syndrome became a short hand for whatever Esmé struggled with.
She certainly has a number of challenges, including epilepsy, severe GERD, severe hypotonia, and global developmental delay, but at the end of the day the most remarkable characteristics about Esmé include her brilliant smile, infectious happiness, remarkable determination, and her general adorableness. Esmé is the kind of child who can make just about anybody smile. During her short years in this world she has managed to assemble quite a following of friends, medical professionals, and fans--all who have “caught” The Cute Syndrome.
Even now that we have a partial diagnosis for Esmé, PCDH19 Female Limited Epilepsy (FLE), like so many children with rare and undiagnosed disorders, her diagnosis doesn’t begin to explain who she is. Esmé may have PCDH19 FLE, but that is just part of who she is: ALL CUTE.
The Cute Syndrome is registered as a tax-except organization under IRS section 501(c)(3).
Our tax identification number is: 46-2699066