“She can almost dress herself and loves all things girlie like clothes, shoes, hats and hair clips.”
Claudia McGrath, Mosaic Trisomy 18, 11/21/2011, Sydney, NSW, Australia
Claudia is our youngest child of four children. She was born at 38 weeks by c-section and weighed 3lb 12oz (1770 grams). Claudia was perfect and only stayed in hospital for two weeks. She came home having expressed breast milk and eventually was able to breastfeed at 3 months old.
We did the usual tests and scans and at 12 weeks into the pregnancy a blood test came back as high risk for trisomies 18, 13 & 21. The ultrasound was perfect. We followed this up with an amniocentesis at 16 weeks even though the scan still showed no anomalies ( we felt pressured to do the amino by the specialists). We received the fast FISH results two days later and were given the all clear however 10 days later we were contacted by the genetic counsellor saying the full analysis showed that 8 out of the 15 cells cultured carried the third copy of chromosome 18 so the result was a diagnosis of mosaic trisomy 18 which neither the counsellor or our obstetrician had encountered before.
We were encouraged to go to a large hospital in Sydney for further genetic counseling where we had two more ultrasounds and again we were given the all clear for any health issues however the counseling was not as positive indicating our baby would be quite high needs and not be able to dress or feed herself and that this would be quite a burden on us and our other children. The meeting did not end well !
The pregnancy progressed well until about 37 weeks were the baby was not growing well and movements were slowing. Our wonderful obstetrician booked us in for more scans and then a c-section a few days later.
Claudia was in special care for ten days requiring a humidcrib and an ng feeding tube. She came home after two weeks and grew healthy and strong. She was such a beautiful natured baby but is a little more fiery these days !
Claudia was a little delayed in reaching her milestones for smiling (16 weeks old), sitting up(12 months old) and crawling at 19 months. She has just turned three years old and babbles animatedly and says a few words and signs. After the removal of her tonsils and adenoids due to sleep apnea in July 2014 she has slept so much better and even grown in length!
She has a few health issues like a small vsd and pfo and a left duplex kidney. She is working with physiotherapy, speech and ot and we are working on walking ( she cruises furniture and walks with a Kaye walker and wears afos).
Claudia is an absolute joy in our lives and teaches us so many life lessons . She adores her bunnies and puppy dog and all animals, being outside and loves people. Claudia attends pre school one day per week with a carer and loves it! She can feed herself and loves food ! She can almost dress herself and loves all things girlie like clothes, shoes, hats and hair clips.