What is CDKL5?

Bennett was diagnosed at 11 months old with CDKL5 Deficiency Disorder, a rare neuro developmental, genetic mutation on the x chromosome. The CDKL5 gene provides a protein that is essential for normal brain growth and development. It mainly affects girls and is extremely rare in boys.

CDKL5 Deficiency Disorder affects every child in a different way, however, most have seizures starting early in life. Also, most children experience cortical vision impairment, autistic tendencies, gastrointestinal issues, hypotonia (low tone), scoliosis, many may never walk or talk, and some use feeding tubes and breathing machines.

There is much research being done and we are very hopeful that there will be the start of a cure by 2025! Gene replacement and protein therapies are in our near future!


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