Before having kids I was a bit of a dancer and actor I really enjoyed performing. I meet my husband Chris in my first year out of school when we were 19, this year we have been together for 22 years. Chris and I enjoyed traveling Europe and parts of Australia, before settling down and building our first home.
Evie started with seizures at 7 months old, so we did every test under the sun to work out why. Mri, CT, lumbar puncture, EEG’s but in the end all we needed was a blood test. That showed idic15, we had no idea what they were testing for we never thought we would have a child with a rare chromosome disorder. They told us “your daughter has this condition and we don’t know what it is, good luck.” So, I started my own research and found the Alliance, I finally found a second family that understood what I was going through.
We live in a small country town on 5 acres, this has enabled us to give Evie and our younger daughter Jordan the room to play and enjoy the outdoors. Evie goes to our local specialist school and is in her last year of primary school this year. We still have our ups and downs but have been fortunate enough that Evie is healthy with 5 months seizure-free. She is still non-verbal but communicates in her own way, she is very active and loves every sort of movement.
What is your hope for the future of your loved one? For the Dup15q community?: I really hope Evie can live a happy full life however long we have her for. I hope for the whole Dup15q community more understanding and acceptance from all our communities. Also, more awareness in the medical field so no more parents have to go through what we did at diagnosis.
What advice do you have for newly diagnosed dup15q families?: Take each day as it comes don’t overwhelm yourself with all the information, take in a little at a time. Enjoy every little inch stone and forget the negative.
