Episode 4: First Comes Epilepsy

First Comes Epilepsy

Before our kids were diagnosed with CDKL5 Deficiency Disorder, they were diagnosed with epilepsy. In episode 4 of the CDKL5 in Color podcast we share our initial experiences receiving an epilepsy diagnosis for our infants.

1 in 26 people are affected by epilepsy in the US, but despite that statistic, neither of us knew much about the disease. We didn’t know that infants could have seizures or that epilepsy could be refractory and difficult to control. We also didn’t know that people could live with daily seizure activity.

Marissa’s Story: At just four weeks old, Gregory started having seizures. After sharing videos of the strange movements with his pediatrician, we received a referral to a pediatric neurologist. During a planned one-hour EEG (where Gregory did not have any episodes) we were told everything was ok, but later on a longer EEG confirmed the seizures. Gregory was diagnosed with epilepsy at two months old.

Amanda’s Story: Although Ava had been meeting milestones, at her four-month appointment the pediatrician observed potential vision issues that started her mom on a journey to better understand her daughter. Ava was seven months old when her seizures were first noted. The episodes, which were associated with sleep and sound, were eventually captured on film and later confirmed on EEG.

Insights and Lessons Learned

Epilepsy Monitoring Units (EMUs) have specialized expertise and equipment for EEGs and, ideally, infants with epilepsy should be seen at a level 3 or 4 EMU at least once. Also, having access to an epileptologist, a neurologist with a specialty in epilepsy, is incredibly helpful.

A key lesson we have both learned is to find providers with whom you can have a collaborative relationship. Setting goals for the appointments about what you want to discuss or accomplish is key in making efficient use of your time. Don't be afraid to be candid with your provider and let them know what you need from them. Remember, they are there to serve you and your child.

Some tips to foster a collaborative relationship include:

• Prepare for Appointments: Write down your questions ahead of time and be prepared to share data and/or photos and videos to help you describe what you are seeing at home.
• Speak Up: If you don't understand something or want more information, ask. "What did you mean by..." "I'm not sure what that means..." or "Can you tell me more about..." are some phrases you can try.
• Follow-through: It is in your child's best interests for you to follow the treatment plan that was agreed to at the appointment, so be sure it's one you intend to follow. If you're hesitant, you need to speak up and get to a place where you feel comfortable. If you can't get there, it's time to find another provider.

Embracing Reality

If your child has a CDKL5 diagnosis, chances are that you’re not going to beat epilepsy, so it’s important to accept the reality of it. You’re not in control, so take those deep breaths, remind yourself that there are no right or wrong decisions, and lean on other parents who have also faced this battle for advice and support.

We'd love to hear your experiences receiving an epilepsy diagnosis. Comment below or email us your thoughts and if you want to come talk on the podcast, let us know!

Until next time 💚
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Disclaimer: CDKL5 in Color (podcast, website, blog, text and visual content, social media, and other

creative works) constitutes lived experience and is not intended as medical advice. Always consult your doctor.