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Queensland, 2008

On the12th of February 2008 I delivered my beautiful son Cameron James at 39 weeks by elective caesarean section. He is my second son and sixth child. After having complication with high blood pressure in my previous pregnancies, his birth ended a trouble free pregnancy.

I was surprised at his size as he was delivered as each of my children were heavier than the last and the last two were over 8 pounds and he was obviously smaller than that at 6 pound 15oz (3150g). His most striking feature to me was his distinctive small receding chin and high-pitched cat-like cry – we referred to him as our little cat.

He was taken to the special care nursery while I went to recovery, which is routine for a caesarean birth and remained there overnight. I was surprised he was on a respiratory monitor the next morning as he was very mucousy and had difficulty attaching and feeding strongly from the breast. As the midwife checked him at his first bath, she noticed single creases on his palms, which I now know as palmar or simian creases. The pediatrician was called, he also commented on his slightly smaller head size 33cm, micrognathia (small receding chin), high-pitched cry, diminished reflexes, jaundice, pearl on his palate and although he had a good suck reflex was not feeding well. He ordered blood tests for chromosomal abnormalities on day 2 and said we would see him in 6 weeks.

We went home on day 5 not knowing what we were dealing with. Breastfeeding continued to be a problem and I expressed to complement every feed. The child health nurse was a great help in supporting me in my efforts to breastfeed but still had no success. When he was 3 weeks old I asked my GP to try and get the results for the blood tests as by this stage I was sure something wasn’t right. He called us in and broke the news to us. Our baby had Cri Du Chat Syndrome. He provided us with a print out from the Cri Du Chat Support Group and made us an appointment with the Genetic Counselor. It was very difficult information to absorb especially by now I was extremely sleep deprived and Cameron was failing to thrive.

I continued to express and started to receive help from a Speech Pathologist to assist with breast feeding and he started physiotherapy at around 3 months. At 5 months he was hospitalised with bronchiolitis. A couple of weeks later he had a modified barium swallow and discovered he was at risk of aspirating while feeding liquids so we started thickening his feeds and my hope to exclusively feed him from the breast ended. I continued to express until he was 13 months old.

His milestones seemed slow to develop but were monumental achievements when they did. His first tooth arrived at 6 months, he rolled at 7 months, he clapped at 12 months, began commando crawling and signing “finished” at 13 months (always at meal times as it is his least favourite time of the day). He now sits independently and signs “more” at 14 months. He is always very happy and placid. He calls “mum mum” when he needs me, and very rarely cries. He has a tiny defect (hole) in his heart, which is likely to close on its own and has a turned eye (squint), which doesn’t require treatment yet. Our only issue at the moment is his reluctance to eat and Cameron only tolerates purees and finds anything lumpier a challenge as he tends to choke or gag. He is in perfect health and getting bigger by the day and we are looking forward to what else life has to hold.