[image]isla.jpg (1)

The pregnancy was going along well, felt great, plenty of energy, not uncomfortable. At 26 weeks, the Dr thought that I was measuring a bit big so she said come back in a few weeks and we will measure again and send you off for a scan if need be. I went back and had not grown at all since the 26 week measure. I was sent off for a scan the next day. This revealed that baby was measuring 6 weeks behind in limb growth and 3 weeks behind in everything else. They believed it to be the supply from the placenta. I was sent off to Adelaide to have professional scans that showed the same growth measurements and the increased resistance in the cord blood. I had an x-ray and an amnio to test for Dwarfism.

Maternal Fetal Medicine at the Women’s and Children's Hospital were involved at this stage and decided to come back to Adelaide (From Pt Linc) weekly for scans. I went back once more and they decided Pt Linc could do the rest of the weekly scans. At 36 week scan, Port Lincoln sonographer was concerned and my Dr sent me back to Adelaide. Nothing had really changed but the Adelaide Dr's said I may as well stay and make plans to have the baby in the coming days. We decided Monday 10th Jan was the day. Baby had different ideas. After 3 lots of gels, overnight wait, breaking waters, drugs to induce labour baby was still not ready. Once some small pains were coming in waves baby got distressed and decided this was not good and would drop heart rate extremely low every time a cramp came. After only 1 hour of slight cramps, we were whisked off to theatre for an emergency C-Sect.

Baby was born at 1:42pm on 11/1/11, a little girl, Isla Maddison, weighing in at 1500 grams, 37 weeks and 2 days. We got a quick look and she was taken to SCBU for assessment. Isla was a mystery to Dr's at this stage. They came in and out over the next week looking, taking photos, testing, etc. trying to work out what was wrong with this bubby. They decided she may have a genetic condition called Cornelia de Lange Syndrome. Genetic tests were sent off, coming back in definitive, more were sent off showing nothing. In 50% of these children, nothing shows on the tests as it can be so hard to find. Over the next few weeks, Isla tried to feed. She was very slow and always fell asleep, often choking as well.

At 7 weeks, it was decided nil by mouth. Tube feeds only. She showed signs of severe reflux after a few days of screaming and upon further investigation it showed she was aspirating her reflux. If this was not enough for the poor chook, she was on oxygen for a mystery lung issue (still a mystery), her kidneys were joined in a horseshoe shape, although functioning separately. She is severe to profoundly deaf, short sighted, has short little arms, but uses them well. She is now 7 months and weight over 5.5kgs. She also has some cardiology concerns and will be reviewed again in September.

From her syndrome, being so sick, and being hospitalised for 5 months, she is behind in her physical and mental development. She is regularly reviewed by the infant development team at the WCH. At the moment she requires CPAP at night with oxygen and oxygen during the day. She is exclusively tube fed and we practice oral stimulation every day. We are so blessed to have her here with us. She has come a long way from the tiny little babe born in January. She makes us laugh daily now with her new tricks. She talks so loud due to her deafness (has hearing aids now) and it’s great to listen too. There is a long road ahead of us in these early years getting everything sorted, but we are prepared to put in the hard yards and get her to be the best version of herself that she can be.

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