On a beautiful spring day in 2006, I caught my very first glance of RARE. I watched in horror as my precious daughter, Ava, had her first evident seizure. It was a complex partial seizure, and the convulsive period lasted at least four minutes. She was my first baby and barely eight months old. I had no idea what had just transpired before my eyes; it was the beginning of a long, exhausting road of uncontrollable epilepsy and a constant probing for the cause.

It took several specialty doctors, running numerous diagnostic tests (sometimes repeating them as technology advanced) until the spring of 2012 to diagnose Ava with a genetic disorder linked to a deletion on her CDKL5 gene. Her official diagnosis is atypical epileptic Hanefeld Rett Variant with CDKL5 mutation. In addition, she has medically refractory epilepsy, myoclonus, cortical vision impairment, significant sleep disturbance, limited hand use, global delays, gastrointestinal issues, dyspraxia, mild scoliosis and sensory processing dysfunction to name a few. Most children with CDKL5 are deprived of purposeful hand use and the ability to walk or talk. Her situation varies by day, but aside from profound neurological issues, her overall general health is fair.

Ava is a very happy girl with a brilliant sense of humor despite her daily challenges. She looks forward to hippotherapy, family time, her school mates and fabulous food. She is ambulatory, communicates with a Dynavox and iPad and also uses very minimal speech and sign language. She relies on others for most of her activities of daily living, and this can be very frustrating for everyone at times. Her specialized healthcare is coordinated by the Rett Clinic at Children’s Hospital in Colorado; utilizing the clinic has been a huge weight off of my shoulders. We are blessed with a great team of specialist; our epileptologist, neurologist, and pediatrician top the list of at least 20 doctors and therapists of various disciplines.

CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. CDKL5 stands for cyclin-dependent kinase-like 5; the CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein’s function, it may play a role in regulating the activity of other genes, including the MECP2 gene (of Rett Syndrome). The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.

Feasibly around 1,000 individuals worldwide have been identified with this gene mutation to date, and as awareness of this disorder rises, it is expected that the numbers of those diagnosed will also rise. It is possible that in the future this gene will have its own name, independent of Rett Syndrome. The international community is strong and resembles the IFCR motto of “Hope, Love, Cure.”

To learn more about CDKL5, visit the International Foundation for CDKL5 Research website. If you are interested in the history of the CDKL5 gene, visit Supporting CDKL5 and start with the story of CDKL5.

Hope, it’s in her CDKL5 genes!

Amanda Jaksha is the mom of Ava and Aliza as well as a Managerial Accountant and blogger of family musings.