Rare Disease Report Podcast: CDKL5 Deficiency Disorder Expert Interview

In the second portion of the Rare Disease Report: CDKL5 podcast, Elia Pestana Knight, MD, a pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute shared her clinical expertise by discussing the details of the condition, the current methods of treatment, and how to differentiate CDKL5 deficiency disorder (CDD) from general epilepsy.

CDD is a refractory form of developmental and epileptic encephalopathy. According Knight the disease was unknown prior to 2003, but quickly claimed its place in epilepsy care due to the similar characteristics and time of presentation.

Commonly, infants with CDD experience refractory seizures within their first few months of life.

“The seizures typically present in the first 2 months of life and in the beginning the seizures could be focal motor or focal without automatisms, or they could be truly generalized,” Knight explained in an interview with HCPLive. “There is not a specific pattern at onset but by the time the patients arrive at the Epilepsy Centers, many of them are already failing 3 or 4 medications–and I am talking as early as age 4 months.”

In addition to serving as a pediatric epileptologist treating patients with CDD at the Cleveland Clinic Epilepsy Center, Knight is an Associate Professor of Neurology at the Cleveland Clinic Lerner College of Medicine.

In this first episode of the Rare Disease Report: CDKL5, Whitney Mitchell, mother and caregiver to her 5 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah’s diagnosis.

After 3 months of being a first-time mom to Havilah, Mitchell was woken up in the middle of the night to find her daughter seizing next to her and her husband. In the episode, Mitchell discusses how the following 14 months of Havilah’s life consisted of frequent tonic clonic seizures, multiple hospital visits, and introductions to various healthcare specialists.

Since this interview has taken place, ganaxolone (Ztalmy) is now available on the market for prescription use.

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