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 ....

January 09 food and play!

Emily with her two cousins

Emily with her beautiful Auntie Hannah, Lilly and Oliver at xmas.

Our little monkey can sit up

Very proud parents as not only has Emily learnt to sit up over christmas but she has also discovered food, having anticipated and warned nursery of all the impending problems of solids it seems the only thing that Emily is concerned with is how quickly you can get it in!

The Dad's perspective on a new baby with Down Syndrome

The most underrated a key person in the family - did I leave out modest too?


I coped early on by denial and throwing myself into waiting hand and foot on my wife and child completely. It took a while to come to terms with a situation I wasn't expecting. As well as navigating all the other novalties this time presents: boobies projecting fine jets of milk across the bathroom, breast pumps, nappy admin, and mother-in-laws!!!


I quickly realised that I had an infinite need and desire to protect and nurture this weeing and poohing machine that we'd just produced. Nobody could take away from us our little daughter who we wanted the best for. Emily will never fully comprehend how different she will be from what we expected her to be and it's for us (as parents) to come to terms with. Realising that fundamentally Emily is a little girl like any other - who just has a reduced capacity to achieve what society deem to be success - has been the most important step for me. I now forget (happily) she has DS and concentrate on extracting as many giggles from her as possible.

(put much more eloquently here: http://www.timesonline.co.uk/tol/life_and_style/article633433.ece)

I joke now that I was more disappointed that Emily was a girl than the fact she had DS, and took consolation from the fact that at least she wasn't Ginger! (no offence to all you GWAs intended - if that's still possible?).

She is has rapidly become an avid rugby supporter. Showing some insightful analysis during England's Autumn Internationals: falling asleep and crying! She can frequently be seen sporting her Sale Shark bibs (thanks to Squaddy - a Leicester supporter!) but has sadly now outgrown her England baby grow.

Down to earth with a bump

When we arrived at hospital our first blissful hour and a half with Emily came to a rather sudden end after her examination by the paediatrician. The midwife had mentioned a concern about the orientation of her eyes but the paediatrican seemed far more concerned about her heart. After some beating around the bush eventually a registrar explained to us that Emily was very likely to have Down Syndrome and one of the complications of this could include severe heart defects. So from blissful joy to a one

hour echocardiagram and ECG with a six hour old baby lots of tears and lots of hugs and all the while Emily was with us and we thankfully both knew that we had fallen for her hook line and sinker.

The following two days were pretty dire waiting for confirmation of the inevitable and also being faced with a seemingly endless list of problems Emily could have and a host of medical professionals that seemed to want to do nothing other than find one. I couldn't wait to get home (that is the biggest understatement ever) and Jim was my rock and sat with me most of the two long nights i was in while we listen to Embles gurgle and squeak watch her latch onto feed beautifully and then watched her eyes close as she drifted off to sleep.

Emily's Arrival

Emily burst into the world like a bullet from a speeding gun on 20th June 2008. She took five hours to pop out from start to finish, the first hour of this was put down to a dodgy burger and garlic fries with Rob Dockings in Clapham. Thankfully Jim was at home and was there to take orders and try to convey unhelpful advise from the ambulance service. Mandy the midwife arrived two minutes before she was born at 10.10 am [after I could see the Emily's head and was steeling myself to have to deliver her on my own - Jim]. Mother and baby were fine. But Claudia was peeved with the fact that she had been denied the opportunity to have any "Gas and Air".