November is National Epilepsy awareness month, and many CDKL5 families have strong relationships with epilepsy. Many received inaccurate diagnoses of epilepsy before the correct one of a CDKL5 disorder. The more people that can recognize epilepsy, the more will be able to recognize CDKL5— we’re all in this together. More diagnoses are not our goal, but we do want to reach families who are currently struggling with wrong or no diagnosis to provide them with resources and support they need.
Most people affected by a CDKL5 disorder have seizures that begin within the first months of life. Problems with the baby’s development then occur, leading to a severe developmental delay. Medically, the term used to describe this combination of issues is epileptic encephalopathy.
– Epilepsy Foundation of America
Doctors don’t know what causes or even the full spectrum of symptoms of the CDKL5 mutation. We do know there are many types of epileptic seizures (tonic seizures with myoclonic clusters and tonic/clonic seizures, etc.) that affect CDKL5 children. Four out of five CDKL5 children will experience seizures, and but some will never have even one.
The similarities between Epilepsy and CDKL5 are seizures, but they end there. Children with CDKL5 also have limited to no speech and mobility, poor circulation and small heads and feet. Medication is useful for both epilepsy and CDKL5 patients with their seizures, but not always with the other CDKL5 symptoms.
Per our website, please review the signs and symptoms of a CDKL5 disorder. While not everyone will have all the signs/symptoms listed here, and some may have other symptoms not mentioned, this is as definitive a list as we are able today.
- Epileptic seizures starting within hours of birth to 2 years of life
- Infantile spasms
- Many different types of epilepsy(tonic seizures with myoclonic clusters and tonic/clonic seizures, etc.)
- A small head (microcephaly)
- Hand-wringing movements or mouthing of the hands
- Developmental delays
- Limited or absent speech
- Hypersensitivity to touch, for example, dislike of hair brushing
- Lack of eye contact or poor eye contact
- Gastro‐esophageal reflux
- Small, cold feet
- Breathing irregularities such as hyperventilation
- Grinding of the teeth
- Episodes of laughing or crying for no reason
- Low/Poor muscle tone
- Very limited hand skills
- Some ‘autistic‐like’ tendencies, such as hand flapping
- Cortical Visual Impairment (CVI)
- Eating/drinking challenges
- Interruptive sleep
- Characteristics such as a sideways glance and habit of crossing legs
We lend our support and encouragement to our brothers and sisters in the epilepsy world as we continue the fight with CDKL5 with the ultimate goal of cures for both diseases. You can find more about National Epilepsy Awareness month at www.epilepsy.com and CDKL5 at www.cdkl5.com, Please explore both organization’s websites for more information on both diseases individually, and the unique relationship shared between CDKL5 and epilepsy.