I looked down at my phone. I had received an appointment from Bethany’s Paediatrician. At our last appointment she had said she would transfer our child to a more local Paediatrician (we recently moved house). She said she probably wouldn’t see us again and yet here was another appointment to see her.

I felt a knot in the pit of my stomach. Our last action at that Paediatrician’s office was to take a blood sample for genetic testing. Receiving an appointment meant the results were back. Something was up.

We only referred Bethany for testing to make sure her Autism and her Cleft weren’t part of some kind of Syndrome. We wanted to make sure there was nothing else to be aware of.

Last week Bethany and I went to the appointment. It turns out that Bethany is missing part of Chromosome 16. This deletion of information is not associated with a cleft lip and palate but is strongly associated with Autism. In fact, it is more than likely the cause of her Autism.

This news reinforced to me that Autism is not and never will be something that Bethany will grow out of. It is in her DNA! It is as much the thing that makes her the beautiful, fun, determined person she is as it is the disorder that disables her.

So, in Bethany’s case we have a reason for Autism. A reason for her severe developmental delays, particularly in use of expressive language. Yet now we have more questions. Was this loss of genetic information a fluke at conception? Am I or is my husband a carrier? If so, what about Lucy? How might this also impact any potential grandchildren? Exactly how intellectually disabling will her autism prove to be?

An answer. And yet so many more questions. The realisation again of the challenges our daughter faces compared to many other children. Again, the weight of another diagnosis falling on the shoulders of parents who wish they could make life easier for their child. We wish we could bear the challenges for her, and yet we can’t.

So, what can we do? We take some deep breaths and determine again to be the best support we can be to her. We commit again to love her unconditionally. And we pray to God for strength, help, and wisdom. We trust that He has allowed her disability for a reason. We recognise that all human life is beautiful and sacred, despite the challenges of disabilities.

And Bethany is a very determined child. With the right support she can and will flourish. She will achieve her full potential. And as long as she is happy, healthy, and accomplishing appropriate goals for her, what more can we ask for?

https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome/