Get to Know Amanda

My journey with CDKL5 deficiency disorder began when my firstborn, Ava, was diagnosed after six and a half years on a diagnostic journey.

I have a BS in Business Administration with an emphasis on Accounting. It has served me well in navigating the mysterious world of rare disease drug development and healthcare economics. I am passionate about patient advocacy in both policy and healthcare outcomes. Multidisciplinary and palliative care should be the standard of complex medical care. On rare occasions, I take my CDKL5 hat off and provide consulting services in various capacities. I am also a host home provider and certified nurse aide, which allows me to provide direct care for Ava in our home.

Advocacy Activities & Appearances

• 2024-present - Co-host of CDKL5 in Color podcast with fellow CDKL5 mama, Marissa

• 2024 - Published author in Therapeutic Advances in Rare Disease

• 2024 - Program committee co-chair for the 6th International CDKL5 Family Conference, in Cleveland, OH

• 2023 - Poster presentation co-author: Rare Disease Patient Advocacy Perspectives on the Promise and Challenges of Gene Therapy (Board No. 1578), American Society of Gene & Cell Therapy (ASGCT) Annual Meeting 

• 2023 - Guest on Feeling This Life podcast "You're not fixing it, but you can fix the way you think about it" 

• 2022 - Panelist "CDKL5 Deficiency Disorder Clinical Research Update" at the American Epilepsy Society (AES) Annual Meeting

• 2021-present - Participant Gene Therapy Advisory Council (GTAC) 

• 2020 - Author The Voice of the Patient Report: CDKL5 Deficiency Disorder (CDD) A report on the Externally Led Patient-Focused Drug Development Meeting corresponding to FDA’s Patient-Focused Drug Development Initiative. 

• 2020 - Panelist “Strategies for Fun and Learning at Home for Kids with DEEs and the Whole Family” with DEE-P Connections 

• 2020 - Executive conference planning committee member for the 5th International CDKL5 Family Education Conference, hosted virtually

• 2020 - Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects Introductory Vignette: Clinical Trials—A Parent’s Perspective 

• 2020 - Contributor NORD Disease Overview of CDKL5 Deficiency Disorder with Dr. Helen Leonard, Telethon Kids Institute, Perth, Australia and Heidi Grabenstatter, PhD, Science Director, International Foundation for CDKL5 Research 

• 2019 - Co-author Severity Assessment in CDKL5 Deficiency Disorder

• 2019 - Organizing Team Member and Panelist at the CDKL5 Patient-Focused Drug Development meeting with the FDA

• 2018 - Imagined and implemented the Connect CDKL5 international contact registry hosted by IFCR

• 2018 - Executive conference planning committee member for the 4th International CDKL5 Family Education & Science Conference, hosted independently in Denver

• 2017 - Founding member of Colorado Rare

• 2016 - Program committee member for the 3rd International CDKL5 Family Education & Science Conference, hosted with IRSF near Chicago

• 2014 - Program committee member for the 2nd International CDKL5 Family Education & Science Conference, hosted with IRSF in the Virginia/DC area

• 2014-2024 - Board Member, International Foundation for CDKL5 Research (IFCR)

  • 2017-2024 - Treasurer

• 2012 - Ava was diagnosed with CDKL5 at just 6.5 years old. Under the guidance of Dr. Tim Benke, we joined the Rett Clinic at Children’s Hospital Colorado, where we made a crucial commitment to clinical research. The exceptional, multidisciplinary care we experienced was so impactful that I was inspired to connect the International Foundation for CDKL5 Research (IFCR) with this clinic model. This collaboration has been vital in establishing CDKL5 Centers of Excellence, paving the way for a brighter future for children like Ava.

• 2005 - My first child, Ava, was born in typical fashion. By early 2006, I noticed odd behavior that turned out to be epileptic spasms that kicked off our diagnostic journey. For the next six years, I scoured blogs of commonality, read epilepsy journals, and beat on every door that might offer the magic of a diagnosis.

Services

Amanda is available for consultation about CDKL5 deficiency disorder, medically complex caregiving, clinical trial design from a caregiver perspective, and mentorship to patient advocacy groups.

Email: amanda@cdkl5incolor.com