#1
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Hi i'm mummy to Ben who has kabuki syndrome, serious heart condition hypoplastic left heary syndrome, is blind, can't walk or talk.
Just hoping to find any parents of kabuki or blind children.
x x x x
#2
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Hi, I've just logged in quickly to reply, I was just having a look and saw your post.
I have a 5 year old with kabuki syndrome, we have been very lucky that he has no heart problems etc but he seems to be losing his hearing, has another test on Monday and he had squint correction surgery last Friday. He does walk but tires easily and is very unsteady on his feet.
Would love to talk more.
#3
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(09-20-2010, 07:58 PM)charlieyates Wrote: Hi, I've just logged in quickly to reply, I was just having a look and saw your post.
I have a 5 year old with kabuki syndrome, we have been very lucky that he has no heart problems etc but he seems to be losing his hearing, has another test on Monday and he had squint correction surgery last Friday. He does walk but tires easily and is very unsteady on his feet.
Would love to talk more.

Hi, nice to 'meet' you, have had a couple of crazy days which is why i haven't been able to reply. Ben was diagnosed at 7 months while we were in hospital after his 3rd heart op, although we were expecting some kind of diagnosis, it still came as a bit of a shock. Ben has quite severe learning, physical and developmental difficulties but he loves music, is always singing and pick up tunes, as well as making his own, very quickly. Ben goes to a special needs school for 2 1/2 days, which he loves and he has become a bit more confident since starting last year. He has started lashing out recently, mostly aimed at me and his little brother (who is 10 months and healthy) but think it is more to do with his frustration as he understands more than he can express.
Looking forward to know more about you and your little boy, and hope his hearing test went ok on monday.
Have you been in contact with any other kabuki mummies? x x x
#4
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(09-20-2010, 07:58 PM)charlieyates Wrote: Hi, I've just logged in quickly to reply, I was just having a look and saw your post.
I have a 5 year old with kabuki syndrome, we have been very lucky that he has no heart problems etc but he seems to be losing his hearing, has another test on Monday and he had squint correction surgery last Friday. He does walk but tires easily and is very unsteady on his feet.
Would love to talk more.

My son has suspected kabuki syndrome although he has not been officially diagnosed. Our geneticist is waiting for a blood test later on this year to confirm. Archie is 7 and has learning difficulties but is making great progress. He was born with craniosinostosis - excuse spelling - which meant having a major operation when he was 12 months to reconstruct his skull. He also has Duanes syndrome and is registered partially sighted. He's generally the happiest and most loving boy you could wish to meet but with his limited speech he does sometimes become frustrated.
Archie has a younger sister Ruby who is 4 and has recently been diagnosed with autism. Daily life is a challenge but still very enjoyable and it's good to know there are other parents out there going through the same challenges. Xx
#5
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Hi,

I have a 20 year old daughter who has Kabuki Syndrome.
We're in Glasgow, Scotland
Look forward to hearing from you.
Linda x


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