So I was randomly chit-chatting with one of Jonah’s (Ausome 6-year-old) paras last June and she asked about Jonny (11-year-old), and if we ever got any sort of diagnosis for him.
I put him on a waiting list for a psych eval and genetic testing nearly 2 years ago. (We finally had an appointment last August.)
I was thinking it might be Ehlers-Danlos or possibly Fragile X… to go along with Dyslexia, Specific Learning Disorder, probably ADHD, and also possibly Autism.
“I can already tell you without a diagnosis.” Jonah’s para says. “Because my son has it too.”
She left it at that.
So of course, I’m like, “…and that diagnosis is…”
“Kabuki Syndrome.”
Huh. Never even heard of it.
She said it is discernible from his facial features. “The Arch of his eyebrows” or some such.
And then I told her about some of the things we’ve been through with Jonny.
“Intellectual challenges/disabilities.” … “My son too.”
“Low muscle tone.” … “My son too.”
“Hip dysplasia.” … “My son too.”
“Cleft palate.” … “My son too.”
huh.
Apparently when Jonny was born, they didn’t have genetic testing for “Kabuki Syndrome.”
They do now.
hmm… could be coincidence?…
or…. i dunno….
I didn’t know ANYTHING about Kabuki Syndrome.
So in the last 6 months or so… I have learned.
Kabuki Syndrome is a 1 in 32,000 diagnosis.
There is not a lot of research or data available to the public out there regarding Kabuki Syndrome. The gene that is most commonly associated with KS wasn’t even discovered until 2010.
The most informative material I could find was on a site created by other parents doing their own research. (Big thanks to All Things Kabuki)
I’ve joined a few Kabuki Syndrome groups just to see if Jonny has more in common with other Kabuki kiddos and my intuition has pretty much convinced me that’s what’s going on.
And I am okay with that.
Some Kabuki kiddos can present a lot like ASD, with characteristics like
-delayed speech development
-constant need for sensory input (stimming)
-texture/sensory issues (SPD)
-food aversions
-sleep issues
-anxiety
-intellectual delays
-excessive need for routine
All of which Jonny presents, which led me to believe Jonny was somewhere on the Autism Spectrum. Hey may very well be…
But these are some traits that I thought were just unique to Jonny, but apparently, other Kabuki kiddos also have characteristics like:
-cleft palate
-missing permanent teeth
-hip dysplasia
-sleep with their eyes opened
-have mirrored finger/hand movements
-have differing pupil sizes.
-short stature/global developmental delays
-weak muscle tone/dexterity
-loose joints
-extra skin on finger tips (finger pads)
And the fact that Jonah’s para (and her son who has Kabuki Syndrome) both recognized the facial features of Kabuki Syndrome in Jonny (low set ears, wide-set eyes, high arching eyebrows), leads me to believe that unlike Autism, Kabuki Syndrome DOES have a “look.”
Kabuki syndrome itself does not shorten ones life span, (though underlying conditions may — it’s also a spectrum). And since it is a genetic condition, there is not a “treatment” or “cure.”
It’s just a part of Jonny. And thanks to our journey with autism and Jonah, it’s now a very easy thing for me to accept.
We don’t have an “official” diagnosis yet, but the geneticist didn’t even want to test for anything else….
So I’ve relaunched A Touch of Ausome. And if I can spread some awareness in the meantime for Kabuki Syndrome… all the better. That is another reason I am grateful to run my Ausome page.
Jonny is a superstar.
I mean… this is the kid who won “student of the month” the last 2 out of 3 months at school. Jonah’s biggest advocate. The kid with the biggest heart.
He already has more character in his 10 years of life than many adults. And I couldn’t be more proud of him.