CHARGE vs. Kabuki Syndrome (Also Att: MEG)

[Guest guest]

Hi Every one and Meg,

I haven't written in a while, but I had written a while back about

the white spots that appear on Katelyn's skin. Well, we took her to

see her geneticist at the beginning of summer, that resulted in

taking pictures of Katelyn's features and the spots which they call

vitiligo, she sent the pictures and her history to her colleagues

and I recieved a call yesterday that they are changing her diagnosis

to Kabuki Syndrome. I have done a lot of research on Kabuki and it

does sound a lot more like Katelyn than CHARGE. But either way you

go, CHARGE or Kabuki, she is still high functional. I know that

many of you also have high functional CHARGErs and was wondering if

any other geneticist's have weighed between the two for other

CHARGErs. Kabuki is actually very similar to CHARGE. The only

thing that made the diagnosis change was Katelyn's vitiligo because

it is a characteristic of Kabuki, but as like in CHARGE you don't

have to have all of the chacteristics to be diagnosed. If you want

to check out more about Kabuki there is a web site...

www.kabukisyndrome.com

Kabuki Syndrome includes the heart defects, coloboloma, feeding

problems, retardation, kidney defects, hearing loss and ear

abnormalities, poor immune systems, genital defects and skeletal

abnormalities...including scoliosis! It may be the answer to some

others questions about high functional charge!

Meg, I would also like to know what you think about how similar

these two syndromes are. It of course caught me be suprise hearing

Kabuki Syndrome, because I went... HUH? What is that? It, like

CHARGE, has not been heard of a lot and is fairly new and

misdiagnosed. just wondering what you think of Kabuki! Thanks for

every body's time!

Roxanne Mother to Katelyn 5(CHaRgEr and Kabuki)Kristopher 3 and wife

to Don.