Support, Research and Advocacy for Rare and Special Families

MWS Stories

United Kingdom > Nicole

We have just received a diagnosis of Mowat Wilson syndrome on our 10 year old daughter Nicole. (11/2005)

Nicole was born 12 days late with abducted thumbs and was a difficult child from the onset. She missed all her developmental milestones and did not sit up until she was about 14 months old and did not walk until two and a half. She first slept through the night at 3. All tests appeared negative although they were initially looking for Angelmann’s Syndrome and the abnormal brain activity was not thought necessary to investigate.

Nicole is at special school and uses Makaton -she has a number of words and phrases and a can make a few sentences a lot of her words are swear words – don’t they always pick those up! Nicole is extremely aggressive and has major outbursts that are now being investigated as potential seizures. She rips paper and is very destructive, she gets into a paddy and will remain uncommunicative and violent for up to 1.5 hours at a time.

She is also sweet and beautiful with long blonde hair and the bluest of eyes and is extremely slim and surprisingly tall. She has a very small head (at the second centile) and the long chin and broad nose and very low ears with upturned lobes. She is still in nappies at night and often incontinent of her bowel.

We received our diagnosis 3 weeks ago and it is a strange feeling after all this time – our biggest relief is that our son Thomas is obviously not affected and as he has cerebral palsy that would have been a real kick in the teeth.

I guess the tempers and the angst that Nicole suffers are the hardest to bear – she is also always in your space as she has no sense of personal space and constantly hits and pushes for attention. She is also an early riser – 4.30-5am daily so we get a lot of day for our money! She has no sense of danger and is very interested in strangers so all concerns for now and the future.

I thought your site was a great idea and really appreciated reading other parents’ accounts.

Kind regards

Julia Marsan

© Copyright - Mowat-Wilson Syndrome Foundation