Story
Thanks for taking the time to visit my JustGiving page. We are raising money for the Wiedemann-Steiner Syndrome Foundation, who are based in America and are currently doing all they can do find out more about this rare syndrome.
Wiedemann-Steiner syndrome is a rare genetic disorder resulting from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11.
The syndrome was only genetically identified in 2012 by a group of researchers in England lead by Dr. Wendy Jones. In Millies case, the mutation occurred de novo, meaning the mutation is sporadic, and not passed on by myself or her Father.
If Millie was to have children, they would have a 50% chance of having WSS.
Wiedemann-Steiner Syndrome may be related to global developmental delays, sleeping difficulties, feeding and digestion complexities, unusual facial features, short/petite stature, hypotonia, dental issues, hairy elbows, long eyelashes, and behaviour issues. There are SOOOOOO many more, but these are the most common.
Wiedemann-Steiner Syndrome can only be identified by genetic testing.
I think its safe to say she is rocking her mutated gene ❤
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