What is Down Syndrome and how does this affect Emily?

First of all Down Syndrome is not an illness or a disease, people do not suffer with Down Syndrome. It is a common (~1:600 babies) genetic variation whereby the individual has an extra chromosome 21, this extra chromosome is in every cell of their body. The extra chromosome is like having too much of a good thing, it confuses certain areas of development that are coded for in chromosome 21. Every person with Down Syndrome will be affected differently by their extra chromosome, it means they are more likely than other people to have certain features and medical conditions but like all people no one individual will have the same combination of these. Children with Down Syndrome will be more like their siblings and family than like another person with Down Syndrome!

So how does this affect Emily?

She has a small congenital heart defect which is fairly common in the general population - up to 25% of people may have it and not know. She may have to have an operation if it does not resolve on its own as it may cause problems in middle age but at the moment it doesn't seem to be affecting her. She will have more scans when she is about one which will tell us more.

People with Down Syndrome often have bad eyesight and some hearing loss but so far Emily has tested normally at all of her checks so we are keeping our fingers crossed.

She has slightly curved little fingers and has low muscle tone which means she has to work harder than the average child to do things like sitting up and rolling over because she has to work harder to maintain a muscle contraction.

The bridge of her nose is a bit flatter than most peoples which may mean she has small airways and she may catch lots of colds but so far it doesn't seem to be a problem and she has been v healthy.

Everything else we will just have to wait and see, like any other child she will learn to walk and run and ride a bike etc. but it may or may not take a little or possibly a lot longer than most. People with Down Syndrome tend to have a profile of strengths and weaknesses rather than global delayed development her strengths are likely to be reading, visual awareness and people skills and her weaknesses maths and auditory memory. It is likely that her IQ will be below normal and people with Down Syndrome often struggle to develop clear speech so the speech therapist is likely to be our best friend that is if I don't become one ....