December 5, 2016 I recieved a call from Koa-Rae’s Paediatrician.
Paediatrician: “Mrs. Bennett?”
P: “Hi, this is Dr. XXXX calling about Koa-Rae’s Array-CGH results we have recieved back from the lab. We have some tests that she will have to retake, however we have found a duplication in her long arm chromosome 3.”
I can remember this day moment so clearly, my husband was away for work and Koa-Rae was down for a nap. I was seven months pregnant with Knixon-Rose, and very emotional.
Me: “what does that mean?”
P: “I will refer you to a Geneticist to further inform you on this specific duplication, for now if you are happy with me sending out requests to get you and your husband’s genetic blood screening done as well. This will let us investigate and see if this duplication is genetic or sporadic.”
Me: “yes, yes that’s fine. But what do I do now? Can you tell me more about the chromosome duplication.”
P: “Like I said, I will refer you to a geneticist to discuss this with you”
I couldn’t think clearly. After he hung up, I went straight onto google to look up ‘duplication chromosome 3’. My eyes started filling up with tears as I read so many types of symptoms dealing with this chromosome. I didnt know what to think. Does my little Rae of Sunshine have a heart defect I didn’t know about? Will she start getting some sort of seizures? What am I going to do? I was thinking the absolute worst.
The test was called Array-CGH: Array Comparative Genomic Hybridization. An examination of the whole genome (the DNA make-up of an individual). The main aim of the array-CGH test is to detect small genetic change. It is able to analyse if DNA is either missing or present in extra copies. If the test revealed that there was a missing or extra genetic material, then both parents are asked to give blood for further testing. This will show if either parent is carrying the same genetic change as the child. Many of the changes found by array-CGH are fairly often and therefore the medical problems are more known. However, in Koa-Rae’s case, some results are rare and might never been seen before, therefore might not be possible to work out if a change in the DNA will cause a problem or not, or what medical problems can be expected. Taking blood samples from, us, the parents could sometimes help clarify this.
Prior to the array-CGH test, the paediatrician discussed with me about preparing for the results. There could be two outcomes
1. results return normal and Koa still seems to be struggling with development
2. results come back abnormal
“Be prepared to deal with the results,” he said, “Either way she will be who she is. When these results come back, they will not change her. They will merely just show us what type of help she will need for the future.”
I am not going to lie, I did not prepare myself. I am not too sure what I really wanted to hear back from the results. Did I want to hear that there was nothing found in Koa-Rae and she was just developmentally delayed. Or did I want to hear that abnormality was found and it was nothing I could control. How do you prepare yourself to be told that the most perfect little human in your eyes, is anything but ‘perfect’?
When I became a mother, I had these expectations in my head on how life would be with my mini. I couldn’t wait to hear her laugh. Couldn’t wait for her to give me kisses and put her arms out for a big hug. I couldn’t wait to watch her take her first steps, and for her say Mommy or Daddy. Couldn’t wait for her to smile at me when I call her name, or hear her scream with joy while chasing her up the stairs. All these were expectations I was putting into my own head.
Why did we go ahead with the Genetic testing? Back then I was constantly blaming myself for Koa-Rae’s delay. Constantly worrying if she will be okay. I was letting other peoples perceptions take over my thoughts. As a Mom you are given this responsibility of taking care of an innocent little human, their future lies within your hands. I thought it was me and I was failing her. I was struggling with the fact that not only my expectations weren’t being met but also the society’s. It was my ego.
The ego says ‘I shouldn’t have to suffer’ and that thought makes you suffer so much more. It is a distortion of the truth, which is always paradoxal. The truth is that you need to say yes to suffering before you can transcend it. – Eckhart Tolle
At 2 years and 1 month, Koa-Rae was diagnosed with de novo 3q26.2q28 duplication.
Squeal, Sign, Mumble,
The Bennett Babes