Wednesday, October 23, 2013

Our Kabuki Kid: Kabuki Syndrome Awareness Day

My sweetheart niece, B, is going to turn 18 in a few weeks. But she's graduating high school (TODAY!!) and about to shift into that new, exciting and scary phase of life that comes after both those milestones. We're going to fly up and party with her and the rest of the family and her friends because it's a cause for celebration. 

It's a big cause for celebration. 

Because there were a few times when she was little, real little, when we were worried maybe she wouldn't live to see this. 

Our sweet B is a Kabuki Kid. That's not fatal but it comes with a suite of issues that can cause some pretty damn fatal consequences. 

Never heard of Kabuki Syndrome? Me either until it found its way into our family when she was diagnosed at age five. There's a more in-depth description on wikipedia and at the Supporting Aussie Kids with Kabuki Syndrome site, but the gist of it is this: Kabuki Syndrome is a rare genetic disorder (affecting around 1:32000 kids) that presents with multiple congenital anomalies (such as distinctive facial features and skeletal abnormalities) and intellectual disabilities. It was called Kabuki Syndrome because the kids' face appeared to resemble traditional white makeup of performers in Japanese Kabuki theatrical genre. 

Each Kabuki Kid has their own unique suite of issues, ranging from the mild to severe, and their own road to diagnosis and a "normal" life. 

Sweet B failed to thrive as a baby because she couldn't swallow properly and was constantly throwing up, so was fed via a nasal gastric tube until she had surgery to place a tummy plug (gastrostomy) and to stop her throwing up (fundoplication) when she was just 5 months old. She didn't start eating orally until she was around four. 

At 2.5 years old, they cracked open her little chest and performed open heart surgery to repair a large hole (a 20mm atrial septal defect). Since then she's had around 50 general anesthetics for various surgeries. This kid knows hospitals. 

All up, her suite of diagnoses have included:
  • the original failure to thrive (growth retardation)
  • intellectual impairment
  • low muscle tone and hyper extensibility in her joints (mainly her knees)
  • broad bridge of nose and a harp shape upper lip
  • sleep apnea (both obstructive and central)
  • Pierre Robin syndrome and Velo-cardio-facial syndrome
  • submucous cleft palate (which has not been corrected)
  • pulmonary stenosis and pulmonary hypertension on top of the open heart surgery to repair the ASD
  • perventricular white matter changes in the frontal lobes of her brain
  • mild hearing loss as a toddler (using hearing aids, but now heard within normal limits) and poor vision, wearing glasses since 10 months old
  • persistent fetal finger pads
  • short stature - this little sweetheart is tiny; she certainly doesn't look 17, although don't tell her I said that.
  • problem teeth (crowding and lots of other issues requiring root canals and removals)
  • petit-mal seizures
  • and a long list of behavioural related acronyms including OCD, ADD, ODD and PDD-NOS, which means there's repeated questions (a lot of questions), hitting, swearing, tearing clothes, chewing on things, and panicking, etc.
Sweet B's had it tough. 

But she's also amazed us all with how tough she is, with how determined she is to plow through the world. Thanks to the incredible work of her mum (incredible!) and a huge team of specialists and teachers as well as numerous volunteers and respite workers, she's walking (first with a walking frame just before her third birthday and then with the help of stirrups by 5.5 years) and talking (first with sign, now with words), not to mention swimming and rollerblading and ice skating and riding quad bikes (which freaks me out because she guns it).

All of the Kabuki Kids are amazing. 

It's Kabuki Syndrome Awareness Day today (Oct 23rd) so, please, go check out the SAKKS facebook page, (show your love by liking it). If you want to buy a ribbon or donate, SAKKS will gladly accept your love as well

4 comments :

  1. I have never ever heard of this before and I can only imagine how heartbreaking it would be to have a child diagnosed with it. But that photo of your niece, it is gorgeous and I see nothing but a beautiful soul with a caring nurturing heart .... oh and one very cute baby ;) xx

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    Replies
    1. Thanks Sonia - she is a gorgeous soul. Very empathetic and loves little kids. That picture was taken the first time she met Dear Boy last Easter. Barely left his side the whole time we were there.

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  2. Wow, such a beautiful post. Thank you for sharing via Aussie Blogs to Love. I have never heard of this syndrome and admire your niece for her courage and strength. Bless her and her mum :)

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  3. I've met your gorgeous niece. My six year old sophie is also a KK :) I know this post is old, but I just found it today..thanks for writing xx

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Thanks for taking the time to respond to what you have read here at Lilybett and Boy. I love reading through all your comments.

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