Finally, we got a diagnosis...

After 10 years of many trial and tests, not knowing what's the root cause of Janelle seizure... finally we have a diagnosis for Janelle. The last visit Dr Chan asked if we are interested to send Janelle's blood sample to the US for another round of genetics test. Hus not very keen, as if it a DNA/Genetics issue, nothing much we can do. But on the other side of me, I would like to know. After 6 months of pondering, I decided to go ahead without my hus knowing.

We went KKH to draw blood sample, and they arranged it to send over to US for genetics test. After about 1-2 months wait, we received a result from them. With their more advance in technology and research, they came back with a diagnosis for Janelle. Positive result is found on CDKL5. In layman term, their processing system to convert protein to normal brain development is not working.

Source: https://www.epilepsy.com/learn/epilepsy-due-specific-causes/cdkl5-disorder

What is CDKL5 Disorder?

CDKL5 disorder is a rare X-linked genetic disorder first identified in 2004. An x-linked disorder means that the gene carrying the problem is found on the x chromosome. CDLK5 stands for cyclin-dependent kinase-like 5 and is a gene located on the X chromosome. A woman contributes two X chromosomes to her child and the father contributes one X chromosome and one Y chromosome.

• The CDLK5 gene tells the body how to make a protein that’s needed for normal brain development.
• Most people affected by a CDKL5 disorder have seizures that begin within the first months of life. Problems with the baby’s development then occur, leading to severe developmental delay. Medically, the term used to describe this combination of problems is epileptic encephalopathy.

What other medical issues are seen in people with CDKL5 disorder?

Children with CDKL5 disorder can have many problems and typically cannot walk, talk, or feed themselves.

• Respiratory (breathing), cardiac (heart), gastrointestinal (stomach), visual (seeing), and sleep difficulties are often present.
• Speech is limited or absent.
• Scoliosis (curvature of the spine), apraxia (difficulty making purposeful movements), and low muscle tone are other symptoms seen.
• Poor fine motor skills and hand wringing movements or mouthing of the hands are common.
• Feeding challenges and grinding of the teeth are also present.

How are seizures in treated?

Seizures in CDLK5 disorder are difficult to treat, but it is important to note that some people do well on anticonvulsant monotherapy (one drug at a time), while others need adjunctive therapy (more than one medication).

• No single seizure medication has proven to be most effective in controlling seizures in these children. It is fairly typical for a child to require many medication trials.
• Steroid treatment and the ketogentic diet have been used in the treatment course of some children.
• Vagus nerve stimulation is also often considered with CDKL5-related seizures.
• If all other therapies have failed and a seizure focus can be isolated, surgery may be an option in some situations.

I added myself to Facebook CDKL5 support group and saw many are on wheelchair bounded. I'm counting my blessing for Janelle which she falls under the higher function of 1/3 group. Keeping praying that there will a treat to alter DNA or some medicine to feed protein to their brain directly to normalise real soon.