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Amelia's Profile

Amelia was born on 30th June 2004 at Jessop's Hospital, Sheffield. A Normal pregnancy and normal delivery!

Amelia was a very content baby for most of the time but we soon experienced prolonged periods of crying and screaming. On one occasion we found blood in her stools and took her to A&E to be checked out. They found nothing wrong despite several tests but also discovered a heart murmur which was later operated on to fix a leaky valve (PDA).

As Amelia reached 6 months old we noticed that she wasn't developing as other children the same age but after a visit to the G.P we were told not to worry and if we still had concerns at 10 months to take her back.  

By the 10 month mark it was fairly obvious that Amelia still was not reaching he milestones and still unable to sit independently. We were then referred to specialists to begin the long process of defining Amelia's condition. 

A number of tests were ordered for conditions such as Downs Syndrome and Rhett Syndrome. These proved negative and after several months of discussion and visits we were finally given an appointment with the geneticist Dr Parker. On our first meeting, having first supplied the Dr with a photograph, he was 99% certain that Amelia had the condition MWS. 

We finally received the results in August 2006 which stated that Amelia had a unique mutation of the ZXH1B Gene which was the closest match to the syndrome.  

Since diagnosis Amelia has slowly but steadily progressed however, there have been a few new concerns along the way. Her constipation grew sufficiently bad that she was sent for a biopsy to test for Hirchsprung's. This proved negative, however following several visits to the hospital we seem to have finally hit upon a happy medium with the medication. 

Amelia recently suffered her first seizure which at the time of writing have now reached 3 in total. She was sent for an EEG Scan and later an MRI and epilepsy has been diagnosed.  

Amelia is still a happy loving little girl who has recently started at mainstream nursery. She is still unable to walk or crawl and does not communicate verbally however her development is improving daily particularly since she has been mixing with other children. She is unable to feed herself with a spoon but has recently started to hold a bottle on her own which we are very proud of! Her sleep patterns are still erratic and we are currently suffering many sleepless nights!

Amelia loves to watch TV (particularly music videos), have books read to her and songs sung. She enjoys being pushed in her new special swing, playing hand clapping games, building bricks and bath time! Amelia loves the company of people and always has a smile, even for new faces.  

Amelia does not enjoy having her hair brushed or teeth cleaned. She is frightened by loud noises and unsure of new experiences.
We hope this information helps those of you with newly diagnosed children!  

By Amelia's Mum & Dad (Adele & Simon) x


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