Lucy

Lucia (better known as Lucy) was born on the 24th September 2007, after an uncomplicated pregnancy. Lucy is the little sister of our gorgeous two year old son, Sam. The birth wasn't too bad either come to think of it. Probably the only thing about my pregnancy with Lucy was that she was extremely active. I joked that she was a firecracker, and would be walking by six months! Little did I know.

We brought Lucy home from the hospital on the Tuesday, but by the Saturday we were back in hospital as Lucy had a fever. They immediately hooked Lucy up to an oxygen machine to check her stats, and her oxygen saturation level was too low, so she was given oxygen therapy. We stayed in hospital with Lucy for three weeks, and there were some very scary moments. One evening she crashed. Whilst feeding Lucy, I was chatting with a nurse, then looked down and she was an awful grey/blue colour - my heart lurched but nothing came out of my mouth. It took a couple of seconds to register and ask for help, and they started to increase oxygen and work on Lucy. It was absolutely the worse moment of my life, and something I will never forget.

During this time at the hospital, the doctors really didn't have an explanation for Lucy's low saturation levels. There were some crackles in her lungs, but even after these were fixed with antibiotics, her requirement for a low amount of oxygen persisted. Eventually they let us take her home with home oxygen therapy (large tank for home, and portable tanks). This continued with Lucy on full time oxygen for six months and night time oxygen up until she was nine months old.

It was probably at around 6 months that I started to notice something was a little bit different about Lucy. Since she was a newborn she was constantly moving, wriggling, fidgeting, but didn't seem to be able to harness that energy to sit up, or roll over. She was always relaxed and happy. Never really whinged for anything from me at all. There was no babbling, but a lot of eye contact and laughter.

I think I held my breath for about a month, just hoping she would improve, and not wanting to say out loud that I thought there was a problem. But then I let it out, told my husband, and those around me that I thought maybe Lucy has some damage from her oxygen derivation on hospital, or maybe cerebral palsy. I approached the hospital respiratory clinic and we started Lucy on monthly physio, OT and speech development.

This was when Lucy started to show me that she wasn't always happy, and could scream down the hospital when being forced to move! We started physio at around 9 months, but always in the hope that she would just catch up with the rest of the kids.

We worked hard with Lucy, and I still thought in the back of my mind that perhaps she had cerebal palsy. Lucy was referred to a developmental paediatrician at around 12 months. She hadn't met any of her milestones, and it was evident that we had some challenges ahead of us.

Luckily we were referred to a wonderful developmental paediatrician at the Mater Children's Hospital. She asked about our family histories, Lucy's history, but then started asking who she looked like, and noticed Lucy had particular facial features. To be honest, this was the first time I had noticed that Lucy had these features - perhaps I was just too close to her on a daily basis to notice any differences to a typical face.

Our paediatrician was also concerned about Lucy's quality of movement, as she was quite jerky. It was at this meeting that our paediatrician mentioned she thought it may be a syndrome. This hadn't crossed our minds for a second, so we were taken back. On some level thought we were happy that our concerns were being taken seriously and we weren't having to fight for a diagnosis, but a syndrome? Surely not? Blood and urine test were taken from Lucy, and we just had to wait.

Then came the dreaded call from the hospital, asking us to come in the same day, and to make sure that both of us were going to be there. We thought we were ready of a diagnosis, but we weren't ready for Angelman Syndrome. To be honest I had hoped for another syndrome where Lucy could speak to us. The lack of speech has been the hardest for me to come to terms with.

We were just absolutely devastated by this news - I screamed like a spoilt child who had something taken away from them. I didn't want to look at Lucy, I wanted this all to go away. I felt constantly sick in the stomach, and just wandered around in pain.

But a couple of days later, while my older son was asleep, I started to play with Lucy again. Then it all started coming back to me - there were lots of things that Lucy was already doing. At 16 months she was trying to stand up against the couch, she could sit unaided, she could feed herself, and she was just the most delightful child you would ever want to meet. Bit by bit I was reminded that Lucy is not Angelmans - she is Lucy who just happens to have Angelmans.

Now at 18 months she is continuing to grow and learn. We have started conductive education at the Xavier Special School at Cooparoo. We have also had to deal with the latest diagnosis of seizures, and the medication that is required, but we will face this in the same way, as a loving family that adores Lucy. Lucy's older brother, Sam, is absolutely delightful with her. He can be a little rough at times, but truly loves her. He is such a serious, responsible little boy (he was born an 80 year old man really) so I think he will be a wonderful brother to a special needs sister.

To be honest, even with all the challenges ahead, our life is wonderful.

We have a beautiful, happy and balanced family life. We allow ourselves to laugh at the good and bad times, we try to have as much fun as possible, and we try not to think past the moment. The Dalai Lama would be proud of us. A diagnosis of AS really hasn't taken anything at all away from us, just helped to understand things a little better.

Jen and Mario Kyriacou, Sam and Lucy