Army life can be challenging for most of us, but it can be even more difficult for those families who are caring for a child with additional needs. Here, Andrea Baker tells us how her family have coped after their youngest daughter was diagnosed with a rare genetic syndrome…
Our youngest daughter Emma has Cornelia de Lange Syndrome, not heard of it? We hadn’t either.
We were living in Germany when I fell pregnant and all seemed okay until my development scan at 19 weeks. The consultant said that she was too small and from then on, I was scanned every two weeks, but no one suggested what may be wrong.
The healthcare was amazing, but I think a lot was missed in translation. She was born by c-section and surprised everyone by her birth weight, still tiny at 6lb 3oz compared to my other girls though. She looked different to her sisters and had lots of struggles with feeding and losing weight. I admit, I was in denial however, I just knew something was different.
It wasn’t until we saw a new health visitor for her 12-month check that her lack of progression was taken seriously. We were due to move again within Germany and were worried about starting investigations in a different area, so we travelled back to the UK for genetic testing. This all came back normal, or so we thought.
When we moved back to the UK, we were surprised to receive a letter asking us to go back for more testing. Our genetic consultant was sure Emma had some form of syndrome, but she wasn’t sure which.
Getting a diagnosis
Emma was now two-and-a-half and drastically behind her peers with both physical and cognitive delays. We were so lucky to meet some amazing NHS staff, especially physio and speech therapists.
They picked up a few things that led me to search online and I came across Cornelia de Lange Syndrome. My husband Matt was away at the time and as always, he told me to stop Googling! But Emma’s genetic consultant revealed that she thought it may be CdLS – most children are diagnosed clinically through facial features and symptoms.
I found the CdLS Foundation and went to one of their conferences where we met other families and spoke to doctors and other professionals who work alongside the foundation.
Emma was clinically diagnosed at almost three years old. As a family we would be totally lost without the CdLS Foundation, and the support and friends we have made through them. Matt was away on tour at the time, so it was hard receiving a diagnosis and being apart.
Having CdLS causes Emma to have learning and physical delays, selective mutism, glue ear, global hypermobility, social anxiety issues, silent reflux and skeletal abnormalities. She has very limited sleep, behaviour issues and she’s a wheelchair user when out and about. But she’s awesome and such a happy child – the cheekiest, happiest mischief maker you will ever meet! Having a child with a rare syndrome and being a forces family can be extremely hard due to lack of support from close family and friends, frequent moves and deployments. I’m so glad I had the CdLS Foundation and the amazing support from them.
If anyone is experiencing anything similar and needs advice or support, contact AFF’s health & additional needs specialist, Karen Ross – firstname.lastname@example.org
Emma stars in the latest film from the CdLS Foundation to raise awareness – go to facebook.com/ cdlsukireland