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CDKL5 Deficiency Disorder

What is CDKL5 deficiency disorder?

Rohan
My beautiful son, Rohan, at age 2.

This is Rohan. He's our only child.

He was born in the summer of 2019, and shortly after his birth, life threw us a curveball. We learned that our beautiful boy has CDKL5 Deficiency Disorder (CDD)—a random, non-hereditary mutation on his X chromosome. CDKL5 Deficiency Disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, which can manifest in a broad range of clinical symptoms and severities. The hallmarks of the disorder are early-onset, intractable epilepsy and neurodevelopmental delays affecting cognitive, motor, speech, and visual functions. Although rare, its occurrence is estimated to be approximately 1 in 40,000 to 75,000 live births.

Rohan has been significantly affected. Currently, he cannot speak, walk, hold his head up, or grasp objects with his hands. He is unable to process what he sees or hears. He is fed through a gastronomy tube and requires oxygen 24/7. On top of all this, the most challenging aspect of his disorder is the daily, random, uncontrollable seizures that occur throughout the day and night.

Despite these life-changing challenges, which we have come to endure and accept, we are also blessed with Rohan's beautiful sweetness, uninhibited honesty, inspiring resilience, infinite patience, and pure innocence. He is the most lovable person we know. All we can do is strive to make his life as comfortable and peaceful as possible.

You can help.

Your contribution can help alleviate our needs for:

  • Medical equipment, supplies, and medication
  • Caregiving, respite, and physical therapy
  • A future van modified for wheelchair accessibility
  • Future home modifications for accessible bedding and bathing

Any support is deeply appreciated. Simply being aware of this rare and devastating disorder can make a difference. Please consider supporting scientific advancements and research in medicine, neurology, and genetics. To learn more, visit CDKL5 Canada.

With gratitude,
Joachim and Family