Esmé spent several days recently with world-renowned photographer Brent Stirton, who was documenting her daily life--from therapies, to doctors visits, to tube-feeding, to playing with her grandparents--for the Novartis annual report. Not only did she have a fantastic time having her photo taken, but she's very happy to be able to help raise awareness for PCDH19 Epilepsy!
Check out our gallery of photos up at the Positive Exposure website! These are from our photo shoot last fall. http://positiveexposure.org/gallery/#ad-image-1
We are thrilled with our partnership with Positive Exposure, a not-for-profit dedicated to redefining beauty (www.postiveexposure.org). Rich Guidotti is a former high fashion photographer who founded Positive Exposure, an organization dedicated to taking photos of people with genetic differences.
For more about what Positive Exposure and Rick do, check out this coverage on UpWorthy.
It may sound a bit odd, but currently one of the best hopes for finding safer, more effective treatment for PCDH19 Female Limited Epilepsy (FLE) is swimming around in a fish tank in Boston. It is a little tiny fish called a zebrafish that Dr. Annapurna Poduri of Boston Children’s Hospital is studying to help find treatments for PCDH19 FLE.
The Cute Syndrome Foundation is on board to help this research happen by committing $25,000 to support Dr. Poduri's promising research. We have an anonymous donor who has signed on for a $10,000 matching grant in honor of our first anniversary to help us raise these funds. Help us reach our goal of $25,000 for this research. Read more about the research we are helping to fund here.
The Cute Syndrome, with our partners Insieme per la Ricerca PCDH19, is thrilled to announce the first internationally funded PCDH19 research grant competition funding a 100,000€/$135,000 two-year research grant. This grant has only been made possible by the tremendous generosity of our donors. When we began The Cute Syndrome almost one year ago our goals were rather modest. We wanted to contribute to the work our partners in Italy were doing funding PCDH19 research, and we wanted to help raise awareness of PCDH19 by telling Esmé's story. The support we have received over the last year has been nothing short of amazing, allowing us to exceed our initial funding goals and offer such a significant grant amount while still in our first year. Thank you for your support, and stay tuned as we will gear up for our one-year anniversary!
We had a chance to speak with WNYT News Channel 13 reporter Benita Zahn about Esmé and The Cute Syndrome. They put together a lovely story about us!
This week we were so lucky to have Saratoga Springs, NY photographer Tracey Buyce volunteer her time to do a photo shoot with Esmé for The Cute Syndrome and our partners at TinySuperheroes. The photos are just stupendous. Tracey truly captured Esmé's spirit and her life.
Take a peek here.
TCS's partners Insieme per la Ricerca PCDH19 (Together for PCDH19 Research) held their second annual PCDH19 World Conference. TCS was very pleased to attend this important event this year where we learned so much about the current research into PCDH19 happening around the world. We heard papers from leading researchers around the world at the conference and had the tremendous opportunity to speak with many of them at length about the future of PCDH19 research, potential collaborative efforts in gathering data about this disorder, and how best to maximize our results in granting funds. You can read more about the conference speakers and their papers here.
We are so grateful for the hard work our partners did to bring all of these researchers together to help our girls!
We are so very proud that the hard work of our partner organization in Italy, Insieme per la ricerca PCDH19 - ONLUS, has contributed an upcoming drug trial by Marinus Pharma with a new medication: ganaxolone. This trial is the direct result of Insieme per la Ricerca PCDH19's funding of research over two years and their persistence in organizing the medical, research, and pharmaceutical community. We are so grateful for their work.