Apr 4, 2022, 11:04 PM
Ava

My daughter was diagnosed with 1p36 deletion syndrome just after she turned 2.

Deep down I always knew she was a little different, she didn’t make a sound when she was born and she cried for the first time at 3 months old.

She wouldn’t really interact or look at us directly and at 4 months we got a referral to see an optometrist.

At 8 months old we were finally seen and discovered her poor vision, all her delays I thought could be explained away. When it came to her still not crawling at over 1 year old we started more investigations, her deletion was picked up through a micro array test.Receiving the diagnosis was hard, I was told over the phone while sitting in the car at the petrol station. I remember frantically going through my family trying to find someone who would pick up the phone. I felt so alone in my grief at that time.And that’s what it was like for me, going through some sort of grieving process - I lamented the loss of the path I thought our lives would take.

Now we were on some new untravelled path, and with that came a lot of fear. Fear of how her syndrome will manifest as she ages, fear of something happening to us and leaving her alone in this world.We received the diagnosis the week before my husband was to take part in Olympic trials, in the end he had to make the difficult decision of pulling out. He has never regretted his decision, being able to focus on family during that time was invaluable.We found it very challenging (and still do) to find information on what support is around and what she is eligible for. What has helped, more than googling and looking through websites, has been speaking to other parents who are going through something similar or have been through it already.Now that we have been living with her diagnosis for about a year, a lot of that fear has been replaced with hope.

She surprises us every day. She has an infectious laugh that can light up a room and has a curious soul.

We have her enrolled with Conductive education and this has been so beneficial for her to develop her gross motor skills. She goes swimming once a week which she loves and has just started RDA.

She is currently non verbal (which many with her deletion are) but communicates well with her version of sign language, this has been absolutely crucial with managing her frustration and self harm. She is very close to walking independently, and I can’t wait for the day when she is free to explore her own little world.In a lot of aspects she behaves similarly to any other 3 year old-delay tactics at bed time, tantrums when she doesn’t get her way, and being a terror at mealtimes, but we choose to take solace in that.

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