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What is CDKL5 disorder?

Rohan

This is my only child. His name is Rohan.

He was born in the summer of 2019, and soon after his birth, life threw us a curveball.

Rohan will never be able to walk or talk. He has intractable epilepsy. He has cortical visual impairment (CVI), rendering him virtually blind. He will probably not live long enough to reach his 10th birthday.

He has CDKL5 disorder. We, as parents, are simultaneously grieving and being imprisoned.

In our case, this was a random and non-hereditary genetic mutation at the X-chromosome. The gene, CDKL5, affects the brain. This could happen to any parent.

CDKL5 disorder occurs more frequently in girls, but is more severe in boys.

The CDKL5 gene provides instructions for making proteins for brain and neuron development. Since CDKL5 disorder affects neurological development, anything the brain can process is impaired. What Rohan sees or hears, he's unable to properly process. The same goes for language development or for fine motor skills such as grasping objects.

To make matters worse, the disorder causes uncontrollable seizures on a daily basis, which causes him distress and exhaustion, robs his personality, and leads to feeding and sleeping disorders. His seizures confuse and scare him, and we are helpless in stopping them.

In addition to his intellectual disabilities, CDKL5 disorder causes hypotonia and autistic-like behaviour, along with respiratory and gastrointestinal issues. He will probably need surgery in order to insert a feeding tube. He may never be able to hold his head up. His mobility is dependent on being carried or moved in a wheelchair. He will never be able to do anything independently. To what extent he's able to comprehend his own environment, we can only speculate.

He will never be able to say, "I love you." The most precious thing we have of him is his smile. Since his complications will worsen as he ages, he may even lose his ability to smile. Even if we see some development in his abilities, sudden regression is common, taking away everything that we worked tirelessly for.

His fate is already sealed where he will likely succumb to either a catastrophic seizure, gastrointestinal complication, or a respiratory disease such as pneumonia, since his body has the reduced ability to fight the common cold. Every day he fights for his own life.

All premium members are Riders for Rohan, who help fund for Rohan's:

  • Medical equipment, supplies, and medication
  • Caretaking and physical therapy
  • Van modified for wheelchair accessibility

Even if you're not a premium member, being aware of this rare and devastating disorder can make a difference. Please support science advancement and the research that goes into medicine, neurology, and genetics.

With gratitude,
Joachim and Family