“Your baby has your eyes!”.
“Actually, those are the typical eyes of Kabuki syndrome”.
This is what happens when you deal with a rare syndrome: people don’t know it and they are not aware of its distinctive facial traits.
They immediately recognise a person who lives with Down syndrome, but Kabuki is different.
If you know it, you see it immediately (like the time I stopped a mum with her son, while we were all entering the Children’s Hospital: “You guys are a Kabuki family, just like us!”. So awkward, Minie, so awkward!).
If you are not acquainted with Kabuki eyes and eyebrows, you won’t see it unless I tell you.
In all honesty, many times I can’t reconcile this.
Dealing with this rare syndrome feels equally like a curse and a blessing.
It’s a curse, because the world doesn’t see a syndrome, and they immediately assume that my girl is a typical child.
She’s doing so well, that’s true, but we still need special considerations, when we are out and about; we are in fact dealing with complex needs, with medical conditions that delay many aspects of her development, and denying the syndrome would be very unfair to her, especially since she’s doing so well.
So I find myself explaining, over and over again, “My girl has this special need, because she lives with Kabuki syndrome”, or “Oh, we don’t consider usual milestones: our baby has Kabuki syndrome”, or “No, this does not apply to us: we have Kabuki to consider”.
The journey of acceptance of a diagnosis as impactful as a genetic syndrome has bumps over bumps, because - I have to be honest: every single time I say “My girl lives with Kabuki syndrome” it hurts. It hurts deeply.
It feels like I worked so hard to heal a bad scar and this annoying presence that follows us everywhere, the syndrome, is punctually stabbing me exactly in the same spot, reopening a wound that feels as fresh as the first day I got it.
Whatever therapy, whatever early intervention, whatever strategy we put in place, the syndrome is there. And always will be.
It’s a stinking guest who is not getting the message: “You gotta go”. Nope.
Kabuki is here to stay, to delay milestones, to challenge her feeding, to threaten the normal function of her organs, and to impact her self-regulation and her social participation.
And I want people to be aware of it, to respect her pace at doing things, to give her a chance to show how incredibly amazing she is.
The world doesn’t know this syndrome, and I’m here to introduce all of us: mama Minie, Beatrice, and the unwelcome guest. Kabuki syndrome.
Although, dealing with a rare syndrome is also a blessing, for the same reason for which it’s a curse: they don’t know it. They don’t see it.
They see my daughter, I introduce her as Beatrice, and as far as they know, that’s all.
They don’t immediately see a syndrome, they don’t label her immediately, due to her facial traits.
I can wait until I have to, to introduce our “buddy” – the Kabuki syndrome; unless it’s necessary to give her the right support, I have the immense privilege of being able to choose whether I want to disclose the syndrome or not.
And when I can avoid it, it feels like the first day of spring.
She doesn’t even have the nasal-gastric tube anymore, which – believe me – got me so many: “What’s your baby’s problem? Was she a premmie?”.
They see Beatrice and nothing else.
They don’t see our struggles, they don’t see all the fears and tears of a journey with a disability, and they don’t see how impacted her life will be, forever. Therefore they won’t help us until I explain why I need more help.
In the same way, they don’t stereotype her, they don’t pity us, they don’t assume she’s limited, and they don’t label her with something that they think they know but, in reality, they just don’t.
It feels like freedom. Until the next stab in the wound: “Actually, she lives with an unrequested guest, named Kabuki”.
Comments