CDKL5 Deficiency Disorder
“G began having seizures at four weeks of age and was diagnosed with CDKL5 Deficiency Disorder at six months old. Our neurologist recommended genetic testing after we failed to find the cause of his seizures and developmental delays. Getting the diagnosis of CDKL5 Deficiency Disorder was bittersweet. It felt good to have an answer, but it was hard when we read about the condition and realized all the many challenges we would potentially face.
The best thing about this diagnosis is the community that we have found online with other families. CDKL5 Disorder impacts a large number of girls, but there are many boys impacted too! We have connected with other families that have boys our son’s age and have developed our own special friendships.
G participates in physical, occupational, speech, and vision therapies. We also attend a toddler music class which he enjoys very much. More recently we have begun making art work to raise money for the IFCR. You can see our art and support us by liking and sharing our Facebook page Art for Hope/Love/Cure.
To newly diagnosed families I would say, don’t despair. G is doing things today that I never thought he would when I first read about CDKL5 Deficiency Disorder. Educate yourself as much as you can, find support from other families, ask questions, and have hope for the many scientific advancements to come!”