Blog

Spotlight: Eric Marsh, MD, PhD

In honor of our 10th anniversary, here is a spotlight on Eric Marsh, MD, PhD. Dr. Marsh is an Associate Professor of Neurology and Pediatrics at Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania. Where do you work? Children’s…

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Spotlight: Orrin Devinsky, MD

In honor of our 10th anniversary, here is a spotlight on Orrin Devinsky, MD, who is Director of the NYU Epilepsy Center and Professor of Neurology, Neuroscience & Psychiatry at NYU Langone School of Medicine. Where do you work? I work at NYU Langone Health…

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CDKL5 Spotlight on Isabella

Meet Isabella our CDKL5 September Spotlight! Mom, Alexia, shares her story! This is Isabella, our resilient happy three-year-old. We didn’t receive our CDKL5 diagnosis until she was around one. Up until then we were trying to find answers for the seizures she was having. We…

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Spotlight: Alysson Renato Muotri, PhD

In honor of our 10th anniversary, we thought it would be fun to do a spotlight on Alysson R. Muotri, PhD, who was one of the original researchers who worked on the iPS cell lines for CDKL5. Dr. Muotri is Professor of Pediatrics and Cellular…

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CDKL5 Spotlight on Noah

It’s time for another CDKL5 Spotlight! Meet Noah from Tennessee! Mom, Jennifer, shares about her precious boy! Noah was a huge surprise to our family. We thought we were done after my daughter, Addison, was born due to severe complications I had after her birth.…

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How PFDD Helps Families Affected by CDKL5 Deficiency

PFDD Meeting for CDKL5 Community On November 1, 2019, IFCR and the LouLou foundation will co-sponsor a Patient-Focused Drug Development (PFDD) meeting for CDKL5 Deficiency Disorder. This meeting is a very rare opportunity to convene patients, regulators, researchers, developers, and health-care professionals. PFDD meetings are a…

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CDKL5 Spotlight on Aubree

I have procrastinated in writing Aubree’s story for this Spotlight. I enjoy writing and am never hesitant to be involved in anything related to CDKL5 Awareness, but for some reason I kept putting off writing this. As I finally sat down today in the few…

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CDKL5 Spotlight on Miriam

Meet 4-year-old Miriam from Kentucky! Mom, Belinda, shares about her sweet daughter. Miriam Jolene had her first seizure at 2 days old. By 2 weeks old she was diagnosed with epilepsy and by 5 months old she was diagnosed with CDKL5 Deficiency Disorder. Although Miriam…

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CDKL5 Spotlight on Penny

It’s time for another CDKL5 Spotlight! Meet Penny! Her mom, Brittany, shares about her special girl! “Penny was born on December 2, 2015. It was a planned pregnancy with no complications. Delivery went well, and needless to say, my husband and I were so excited…

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What does CDKL5 Disorder mean for brothers and sisters?

By Karen Utley, IFCR President How do siblings cope? A few months back, I was talking to another mom of a child affected by CDKL5 Deficiency Disorder, and she was expressing her concern about her other children and how all of the challenges would impact…

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