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 gene. We call this the CDKL5 disorder and it is/was referred to as Atypical Rett Syndrome as well. CDKL5 is a kinase gene, regulators of cell function, and the set of all known human kinase is called the human kinome. Scientist are still trying to understand the exact roll both the CDKL5 gene and protein play in the human body at this time.

A general list of her secondary diagnosis with some links to pages to better explain her follow.
*Epilepsy and epileptic syndromes with complex partial seizures, with intractable or refractory epilepsy
*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 the poo at this house
*Demonstrates nice receptive communication skills
*Uses both DynaVox and iPad primarily for communication, we practice many modalities
*Minimal sign language due to awful fine motor skills and low vision complications
*Very socially motivated
Currently we follow a sensory diet/lifestyle, attend a local public school and utilize Hippotherapy facilitated by physical therapist, neuromusic therapy, occupational, and Speech/AAC. All of Ava's medical care is coordinated through The Rett Clinic  and Special Care Clinic at Children's Hospital Colorado; it has simplified our medical maze/haze much. 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!

Here are some CDKL5 friends with nice websites from around the world, you can find many patient/family blogs at these sites:
Supporting CDKL5
CDKL5 Canada
CDKL5 Italy
CDKL5 Japan
CDKL5 Netherlands

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
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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