Rare Disease Report Podcast: CDKL5 Deficiency Disorder


In the first episode of a 2-part Rare Disease Report, Whitney Mitchell, mother and caregiver to her 5 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah’s CDKL5 deficiency disorder diagnosis.

For this podcast, Giuliana Grossi, associate editor of HCPLive, and host of the Rare Disease Report, features a 2-part production on CDKL5 deficiency disorder (CDD).

In this first episode, 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.

The second portion of the Rare Disease Report: CDKL5 podcast shifts to a clinical viewpoint by exploring the details of the condition, the current methods of treatment, and how to differentiate it from general epilepsy in an interview with Elia Pestana Knight, MD, a pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute.

The "Life-Changing" Moment

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. The following 14 months of Havilah’s life consisted of frequent tonic clonic seizures, multiple hospital visits, and introductions to various healthcare specialists.

She was treated for epilepsy and given seizure medication but nothing worked. Despite being told by doctors that her daughter would probably grow out of it, those 14 months were a living nightmare for Mitchell.

“In my heart, I was like, ‘this is too much, she can't be having 10 5-minute tonic clonics a day. This isn't normal,’” Mitchell said.

In her continued pursuit for an answer, Mitchell felt unheard and dismissed by many doctors but persisted despite her dwindling hope. More than a year after Havilah’s first seizure and genetic screenings, they saw a new pediatrician who conducted a specific genetic screening.

The "Pivotal" Moment

When Mitchell brought Havilah in to discuss the results, the pediatrician told her that Havilah has CDKL5 deficiency, a rare disease the doctor hadn’t heard of before but provided Mitchell with a plethora of materials. This was a pivotal moment for Mitchell. After discussing it over the next few hours in the doctor’s office, she finally felt heard.

“I felt like she really held my hand. She said, ‘I don't know anything about this, I deal with a lot of other rare diseases. Some of them have similar symptoms or types of seizures, and I'm here for you, and I want to help you, but we're going to have to learn together,’” Mitchell recalled.

She was aware that Havilah and her family still had a long road ahead of them, and couldn’t even be certain if her daughter was going to survive, but she finally had an answer and felt supported for the first time.

“Getting that diagnosis–in so many weird ways–it felt like this sense of relief, like all of a sudden, we have answers, and a community, and we're not alone anymore,” Mitchell explained. “Of course, I cried. I mean, it's not anything anybody wants to hear, but it was the beginning of our new journey, and it felt better.”

About CDKL5 Deficiency Disorder (CDD)

CDKL5 deficiency disorder is a refractory form of developmental and epileptic encephalopathy. According to expert Elia Pestana Knight, MD, pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute, 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.”

Knight is a pediatric epileptologist with experience treating these young patients at the Cleveland Clinic Epilepsy Center. She also serves as Associate Professor of Neurology at the Cleveland Clinic Lerner College of Medicine.

Follow the Rare Disease Report on Twitter, Facebook or LinkedIn so you don’t miss the second installment of this month’s episode of the Rare Disease Report: CDKL5.

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