When your child is born with a serious health condition, it can feel like their life has changed just as it’s starting.
CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder is a rare, genetic and chronic (lifelong) condition that causes seizures and developmental delays. It can also make it hard for your child to move, sleep and swallow. It happens when there are changes (mutations) in the gene, CDKL5, which makes proteins that help your child’s brain develop the typical way.
It’s natural to have questions and feel worried when you find out your child has a rare disorder. In a moment like this, you need a team of compassionate experts on your side. At Cleveland Clinic Children’s, our pediatric specialists treat every kind of neurological condition, including uncommon ones like CDKL5 deficiency disorder. We’ll help your child manage their condition and give you and your family the support you need, too.
Since CDKL5 can affect different areas of your child’s body, they’ll have a care team of experts from many specialties, including neurology, genetic counseling, gastroenterology, pulmonology, cardiology and more. Meet our team.
The International Foundation for CDKL5 Research (IFCR) has named Cleveland Clinic Children’s a Center of Excellence for CDKL5 deficiency disorder. As part of this center, our specialists continue to study new ways to diagnose and treat this condition and give our patients the highest level of care. Your child may also be able to participate in one of our clinical trials for CDKL5. Ask their provider if they qualify.
Sometimes, the thought of getting a sick child to their provider’s office is too much. For some appointments, your child might be able to have a virtual visit. They’ll get the same great care without having to leave home. All you need is an internet connection and a smartphone, computer or tablet.
Cleveland Clinic Children’s is a trusted healthcare leader. We’re recognized throughout the U.S. for our expertise and care.
The problem gene in CDKL5 deficiency disorder is found on the X chromosome. Since girls have two X chromosomes and boys have one X and one Y chromosome, CDKL5 deficiency disorder is more likely to be found in girls. But boys can also have this condition.
Seizures are the number one symptom and can happen within the first few months after birth (some as early as the first week of life) or up until 2 years of age.
Your first visit starts with a conversation. Your child’s provider will ask about what your child has been experiencing, any symptoms they have and how long they’ve had them. We’ll also take a detailed medical history and give your child a physical exam to check their overall health.
Next, we’ll do a neurological exam to see how your child’s brain is working. Your child’s providers will use a few tests to take pictures of their brain, like an MRI (magnetic resonance imaging) or electroencephalogram (EEG).
Your child will also need genetic testing to confirm they have CDKL5 deficiency disorder.
Your child’s pediatric care team will include experts from several different specialties. We’ll put together a team that focuses on every aspect of how CDKL5 deficiency disorder affects your child. Your child might work with:
Our healthcare providers see patients at convenient locations in Northeast Ohio.
Treating a lifelong condition like CDKL5 deficiency disorder is all about managing your child’s symptoms. We want to make sure they stay as healthy as possible and keep them safe while they grow and develop. Your child’s provider may recommend:
CDKL5 deficiency disorder is a condition your child will have throughout their lifetime. This means lifelong care from a team that’ll work with you as your child grows. Your child will see their pediatric providers regularly for follow-up visits to make sure their care plan is managing their symptoms — and to stay on top of any new symptoms that might develop. When your child reaches adolescence, we’ll start the process of moving them to Cleveland Clinic providers who manage adults with CDKL5 deficiency disorder. We want them to feel comfortable and confident with their continuing care.
It can be overwhelming to find out your child was born with a serious condition like CDKL5 deficiency disorder. Cleveland Clinic Children’s compassionate experts are here to help you understand this diagnosis and make sense of the road ahead. We’ll work as a team and use our combined expertise and resources to make sure your child receives the best care now and throughout their life.
Getting an appointment with Cleveland Clinic Children’s CDKL5 deficiency disorder experts is easy. We’ll help your child get the care they need.
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