I had the pleasure of meeting Niamh and her family. It is for children like Niamh that this project is so important. Her condition is so rare that there are only just over 100 people in the whole of the UK with the condition.
She has Phelan-McDermid Syndrome (PMS) which is caused by a deletion, or loss, of the terminal segment of chromosome 22. Also known as chromosome 22q13.3 deletion. Individuals with PMS have developmental delay. They often do not develop functional language and can have autism spectrum disorders. These are the bare facts but behind these details is a person and sometimes it is all too easy to just label a child.
When I met Niamh I could see the pleasure she got from simple things like gazing through the window, watching her tablet and dancing to favourite music. She may not be able to chat with people or fully engage in the same way as other children her age but her life is full of joy and fun. Her mum says that she likes nothing more than cuddling with her brothers and playing outside and on the trampoline.
The Rare Project will ultimately give you the opportunity to get to know the children behind the conditions. If you have a child with a rare condition or know someone affected then please ask them to get in touch with firstname.lastname@example.org.
If you would like more information on this syndrome you can visit http://www.pmsf.org.uk/.
Find out about some of the other children taking part in the Rare Project by clicking here.
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