NIAMH
“She likes nothing more than cuddling with her brothers and playing outside on the trampoline”.
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, yet behind these details is a person. Sometimes it is all too easy to simply label a child.
“Her life is full of joy and fun”
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 her 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 told us that she likes nothing more than cuddling with her brothers and playing outside and on the trampoline.
FIND OUT MORE
Phelan-McDermid Syndrome
Human cells have 23 pairs of chromosomes (22 pairs of autosomes and one pair of sex chromosomes), giving a total of 46 chromosomes per cell. Each chromosome has a short (p) arm and a long (q) arm. Phelan-McDermid Syndrome can be a 22q13 chromosome deletion, ring chromosome, mosaic or unbalanced rearrangement of the chromosomes.
SHANK3 is a type of protein that is missing in almost all cases of PMS. SHANK3 is the named genes for the neurological deficit in PMS and results in global development delay and absent speech.
To find out more about Phelan-McDermid Syndrome and its symptoms, click here.
Phelan-McDermind Syndrome Foundation UK (PMSF UK)
The Phelan-McDermid Syndrome Foundation UK (PMSF UK) is a registered charity in the United Kingdom. PMSF UK is about providing a supportive inclusive community for those who have or know someone with Phelan-McDermid Syndrome (PMS). They have a range of support and information available to families with PMS - to learn more about the syndrome and the foundation, click here.
Source: http://www.pmsf.org.uk/.
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