Hey! I recognize that kid there in the middle! That’s my Jonny-boy, on that The Kabuki Gathering image!
So, Kabuki Syndrome is a 1:32,000 diagnosis.
Jonny hasn’t been officially diagnosed. As a matter of fact, his genetic test came back negative. There are two known gene mutations that can attribute to Kabuki Syndrome, and Jonny has neither.
But Kabuki Syndrome is so rare, that our current technology has not completely mapped out all its possible genetic markers.
The first gene wasn’t even discovered until 2009, a year after Jonny was born.
Our geneticist isn’t 100% sure that Jonny has Kabuki Syndrome, though he is sure that Jonny has “A” syndrome.
After doing our own research and speaking with other Kabuki parents, I am certain that Jonny is a Kabuki Kiddo.
Some of the traits that Jonny has (also common with other Kabuki kiddos) are:
-Distinct facial features (arched eyebrows missing the outer third), elongated and underdeveloped nose, large underdeveloped ears, recessed chin)
-Low muscle tone. We are still working on things like tying shoes and doing ONE sit-up.
-Hypermobility/loose joints.
-Cleft in his soft palate. Had to be surgically repaired.
-Bilateral Hip dysplasia. (shallow/dislocated hips at birth)
-Feeding difficulties. (The kid was picky with his freaking breast milk). Also SEVERE colic when he was an infant. Sometimes crying 12 hours straight through the night.
-Mild/moderate intellectual delays. We’ve been dealing with this in school since forever.
-Missing permanent teeth. I think he’s missing 8? I honestly forget.
-Sensory/autistic-like tendencies. Sensory aversions. CONSTANT Stimming.
Our latest discovery is that Jonny has mild hearing loss. We have never had a perfect hearing test.
Is he “losing” his hearing or has he always been like this? I dunno. We’ll go back in a few months to find out.
It’s just another “thing.”
Medically-speaking, nothing really phases me anymore, each time they find “something else.”
We’ve been dealing with this “stuff” for a long time.
With all the issues between my two kids, now I’m like… “welp. Add it to the list.”
#kabukisyndrome #ausome