If you were like me when you first saw this title – “what is Kabuki syndrome”, then you are like most of us. We go about our lives not aware of the difficulties that some families face on a daily basis and its only when you encounter someone who is dealing with a rare condition – do we start to notice. This is why it is imperative that we all share information like this, for the sake of the families who have a daily battle. So if you can share this, please do as it will help to raise awareness and generate more understanding and support.
I first met the family who have a lovely little daughter who has Kabuki syndrome a month or so ago whilst out at an exhibition which included Families in Trauma. The father approached me and humbly said, “I’m not sure if this is what you mean by trauma – but it has been a trauma for our family”. That is exactly what we mean!!
So what is Kabuki syndrome?? I’ve done a little research and obviously filmed the family involved, and it is a very rare genetic syndrome which affects around 1 in 32,000 children. It affects many parts of the body and is characterized by distinctive facial features . People with Kabuki syndrome have developmental delay and intellectual disability that range from mild to severe. Affected individuals may also have seizures, an unusually small head size or weak muscle tone . Some have eye problems such as rapid, involuntary eye movements or eyes that do not look in the same direction.
A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities so as you can imagine, along with all of the above, comes the risk of sudden death at any time .
This is the reality for all families who live with this daily – can you imagine how hard that must be for all involved?
As I mentioned we have filmed a lovely family from Kirkcaldy, Fife who willingly shared their story in the hope that it might help others – and it was extremely moving and inspiring. The video will become available on our website in October. Please watch out for this and share with anyone you can.
If you would like to contact me or make any comments on this post, please feel free to do so.