Genetic Disorders – Williams Syndrome
Nadena was born with Williams Syndrome, a chromosome disorder where she has a micro-deletion on chromosome 7. Her diagnosis at aged two was a roller coast of emotions for her parents, who experienced both relief at finally understanding what was happening to their daughter, and disbelief that she had been diagnosed with such a rare genetic condition.
“My husband and I had a very rough introduction to parenthood with our first child. Her name is Nadena. As a baby she was always miserable, crying, had severe reflux and at one stage even stopped eating, so I could not give her medication for the reflux. She had to go in for surgery to fix the reflux, called a Fundoplication. We handed our 15 month old daughter over and put her life in the hands of the wonderful doctors at the Royal Childrens Hospital in Brisbane. With that fixed we thought our troubles would ease.
They didn’t. At age 2 and still so tiny for her age, not talking or mimicking noises, we saw her cardiologist for another check up as she had been diagnosed with Pulmonary Stenosis at 6 months of age. He sent us off to a genetics doctor who took one look at our 2 year old and told us that she had Williams Syndrome. With this diagnosis came a roller coast of emotions, both relief and disbelief. We were relieved that it wasn’t all in our heads that she was such a difficult baby but it took a huge load off me because as a new mum I thought I was doing something wrong.
Williams Syndrome is a chromosome disorder where she has a micro-deletion on chromosome 7. For our daughter it was a total fluke in nature. 1 in 20000 at the time but now is apparently 1 in 7500 so more children are being diagnosed. With this diagnosis, it has given us some sort of direction in life.
Nadena has recently been diagnosed with mild intellectual impairment and with this, plenty of challenges have arisen. Something that seems so simple to us, is so hard for her to understand. But that has taught us patience and even understanding for us at a new level. Our daughter started school (prep) this year and again that was a big challenge. She started in mainstream 3 days/week with 2 days at special school. Three weeks into the new school year, she wasn’t coping with the large classes and demands put on her and we had to move her to special school full time. She is currently attending there and getting more confident by the week which to us means that we have chosen the right place for her at this particular time in her life. While that may change over the years, right now we live just day by day because looking too far ahead only adds unnecessary stress.
Our daughter is still severely delayed in receptive language skills but can speak beautifully which can fool alot of people. She has what is known as a “cocktail personality” very common to Williams Syndrome. Looking back now on what my husband and I have been through in the last 5 years, we feel we have come through this very well. It has been hard but our daughter chose us for a reason, to teach us lessons too. Honestly if I could do it all over again, I wouldn’t change a thing.
Nadena now has 2 younger sisters, Kymberlie 3 and Juliette 1. Both her younger sisters have been helping us teach Nadena skills she needs. My daughter Kymberlie helped me teach Nadena her colours with sign language. This I would recommend for any child, special needs, or not. Nadena having a very short attention span, with sign language, she would actually stop and watch us to see what we were saying. We have also changed her diet and removed all artifical colours, flavours and preservatives from it and this has made a huge difference to her behaviour in general. With this new diet we are hoping that this will open up more doors for her in her future.
Right now though, as long as she is happy, we are too."
*The photo I have attached is of Nadena feeding her youngest sister, Juliette.
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Huggies would like to thank this mum for bravely, and generously sharing her story. We sincerely wish our best to you all.