CDKL5 Life

"Parenthood is about raising and celebrating the child you have, not the child you thought you would have. It's about understanding that he is exactly the person he is supposed to be. And that, if you're lucky, he just might be the teacher who turns you into the person you are supposed to be.”  -Joan Ryan
Ava’s health quirks are due to an eight base-pair deletion (c.1547_1554del8) on her CDKL5 (previously known as STK9) gene. CDKL5 deficiency disorder was once referred to as Atypical Rett Syndrome. CDKL5 stands for cyclin-dependent kinase-like 5, a protein whose gene is located on the X chromosome. The CDKL5 gene provides instructions for making a protein that is essential in forming the connections for normal brain development, with mutations causing a deficiency in the protein level.

Most children affected by CDKL5 deficiency (about 90 percent of whom are girls) suffer from seizures that begin in the first few months of life. Most cannot walk, talk, or feed themselves, and many are confined to wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory problems, and gastrointestinal difficulties.

The CDKL5 gene encodes proteins essential for normal brain function. Mutations in the gene are usually spontaneous ‘de novo’ occurrences, rather than inherited. Initially, CDKL5 mutations had been found in children diagnosed with cerebral palsy and autism, among other conditions, and the resulting disorder was classified as an early-onset seizure variant of Rett Syndrome. It is now known to be an independent clinical entity caused by mutations in a distinct X-linked gene and therefore a separate disorder with its own distinct characteristics.

A general list of her diagnoses:
*Epilepsy and epileptic syndromes with complex partial seizures, with intractable or refractory epilepsy
*Myoclonus
*Cortical Visual Impairment
*Sensory Processing Dysfunction
*Strabismus, Ocular Motor Apraxia, and a couple of other neurological vision diagnosis
*Hypotonic tone (occasionally) with very defined and strong muscles: loose and stiff
*Dyspraxia or various Motor Planning Challenges, especially transitions
*Developmental Delays or Intellectual Disability
*GI complications that remain unidentified (it's all about reflux and the poo at this house)
*Demonstrates nice receptive communication skills
*Uses both hi-tech (tobii I12 eye-gaze) and multiple low-tech modalities of communication
*Very socially motivated
Currently we follow a sensory diet/lifestyle, attend a public school and utilize Hippotherapy facilitated by physical therapist, neuromusic therapy, occupational, and Speech/AAC. All of Ava's medical care is coordinated through multidisciplinary care at both the CDKL5 Center of Excellence (located with the Rett Clinic) and the Special Care Clinic, both at Children's Hospital Colorado. These care teams have simplified our medical maze/haze. We owe our diagnosis (it took many specialist over 6 years) to the director of the CDKL5/Rett Clinic, Dr Timothy Benke. In January of 2013 this very clinic was named the First CDKL5 Center of Excellence!

Ava has been tested for genetic/metabolic issues since infancy; these are some of the specific genes tested (Molecular & Cytogenetics):
1.       Zeb2 – Mowat-Wilson Syndrome  *abnormal-did further study of parents & it is considered a polymorphism due to paternal match of error
2.       MecP2 – Rett Syndrome, normal & tested 3 times in 5 years
3.       TCF4-Pitt-Hopkins Syndrome  *2 polymorphisms
4.       FOXG1-Congenital Rett Syndrome, normal
5.       UBE3A-Angelman Syndrome methylation & sequencing, normal
6.       SLC9A6-Christensen Syndrome, normal
7.       FISH, subtelomeric
8.     HRC
9.     Mircroarray, 1 Mb through CGL & Cytochip 105K through CGL
10.    FMR-1 - Fragile X, normal

We have also ran the following biochemical studies, some multiple times and all were normal:

Acylcarnitine profile
Amino acids, serum
Ammonia, serum
Biotinidase
CBC's
CDGS
CMP
Lactate
Pyruvate
Lipase
Organic Acids
Thyroid panel
Very long chain fatty acids

Mitochondrial: mtDNA screening

Radiology: CT & MRI, several of both with nothing too abnormal

Several vEEG's

This page, like much of our life, is a work in process...

Update: In September of 2014 I was privileged to join the IFCR Board of Directors and here is a welcome they gave me:

"The IFCR is excited to announce that Amanda Jaksha has been appointed to our Board of Directors. Amanda brings a strong accounting, business and creativity background to the foundation, as well as dedication and passion for helping others. Her daughter, Ava, was diagnosed with CDKL5 in 2012, and Amanda immediately became active with IFCR and raising awareness for CDKL5. Amanda is the Regional Family Representative for the IFCR for the Rocky Mountain area in Colorado, she serves as an IFCR representative at the CDKL5 Clinic at Colorado Children’s Hospital, and has worked on many key committees for the IFCR over the last 2 years. 

Within her local community, Amanda has been a strong advocate for epilepsy training and awareness, sibling support, disability awareness and much more. Amanda also participates on several parent committees at Colorado Children’s Hospital and University of Colorado School of Medicine. We are honored to have Amanda join our team, and we look forward to working with her to realize IFCR’s vision of a brighter life for all our children."

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