Home > SOFT Children > Family Stories > Ellie

Ellie (mosaic trisomy 18)

Ellie Cockburn

Ellie was born in May 2003 and weighed 4lbs 5oz. She was whisked into Special Care Baby Unit as she had issues regarding blood sugar and she had very poor sucking capabilities; therefore feeding was a difficulty. 

I had my suspicions in those early days that she had something “different” about her from “normal” babies – looking at her small, almond-shaped eyes was enough to make me think she had Down’s Syndrome (the only syndrome I was aware existed then).  A nurse assured me that the palmar crease testing had been done and she did not have Down’s Syndrome.

Fast-track Ellie’s story on to when she was 15 months old and we sat in the paediatrician’s office while he told us that she has mosaic Trisomy 18. We were provided with fairly scant information in the form of an excerpt from a medical journal which informed us, among a few other details, that mosaic T18s should expect to have an approximately normal length of life. We didn’t even think we would ever have to consider that our daughter wouldn’t have a normal life expectancy.

Ellie’s now 10. She attends two schools on a split placement each week (and has since Primary 1). One school is mainstream and the other is for children with special needs. She loves both schools. She is very popular with the children at both and it is lovely to witness how accepting the children in the mainstream school are of her – they don’t see her as having disabilities – they just see her as “our Ellie”. Ellie has mobility issues (of which, more in a bit) and the classroom is located on the first floor. Ellie and her best friend, Hannah, are first to leave that floor at the end of the school day and I have seen how patient the children behind them are as Ellie slowly makes her way down the stairs! I know most of them are desperate to run down the stairs and fling themselves out of the doors but they understand that Ellie just needs that little bit more time. A lesson for some of them which may last for longer than primary school?  We can live in hope…

Ellie’s reading ability has progressed to and she reads at about age 5 level. She doesn’t like sums very much (neither do I!) but she works hard to persevere with all the challenges she’s presented with at school. 

The split placement education will continue until she reaches the end of Primary 7 (so in two years’ time) and she will have secondary schooling solely at the special needs school. 

As I mentioned earlier, Ellie also has some physical disabilities. She has an inwards-rotated left hip which means that she has an intoed gait on her left foot.

She also has a leg length difference of 2cm – the left leg is longer.  This discrepancy is managed by using orthotics in her right shoes. However, she was recently reviewed by her orthopaedic doctor who informed us of an operation whereby the growth on the left leg can be halted to allow the right leg to catch up. We are considering this and are off to Sick Kids Hospital in Edinburgh at the beginning of July to have an x-ray done to kick off the process of deciding if/when this will be right for Ellie.

Ellie’s leg length difference has meant that she has developed a 9 degree curvature of her spine. She is reviewed annually by the scoliosis surgeon in Edinburgh and he has stated the importance of having her legs measured regularly since any further discrepancy could mean the development of scoliosis. To monitor the discrepancy we use the services of our local hospital’s orthotics department on a twice-yearly basis to have her legs measured.

She’s got hearing aids in both ears and has had for the last 15 months. She has mild to moderate hearing issues and it’s very obvious when she doesn’t have her aids in – we have to raise our voices and we have to repeat stuff, so these aids have made a massive difference to her both in home and at school. The improvement in her speech alone has made us aware of how important the hearing aids are. She is now constructing sentences and using comprehension in her conversations. It wasn’t that long ago all we ever heard were one word answers from her.

We recently had her assessed for ADD (Attention Deficit Disorder) and while that assessment has come back as not ADD, the team assessing her has agreed that her lack of focus and attention is an issue caused by her learning disability. We have been referred to the Learning Disability Team and await an initial appointment with them. They will also assist us with the many fears and phobias Ellie exhibits – cats, dogs, birds, fingernails, etc.

June 2013

  • Currently 0 out of 5 Stars.
  • 1
  • 2
  • 3
  • 4
  • 5
Rating: 0/5 (0 votes cast)

Thank you for rating!

You have already rated this page, you can only rate it once!

Your rating has been changed, thanks for rating!

Log in or create a user account to rate this page.