Searching for peace of mind

MicroscopeWhen I started out this blog, I wanted it to be open and honest about what it’s really like to live knowing that your child has a terminal illness. As I discussed in my last post, finding out we were pregnant again has been quite a challenge and has brought up a whole range of issues.

One of those issues was whether to have genetic testing or not. We had already been in touch with Aidan’s geneticist years ago when we thought we might have another baby and they had offered a CVS (chorionic villus sampling), an antenatal test commonly used to detect down syndrome and other chromosomal abnormalities. The problem with Pearson Syndrome, or mitochondrial diseases generally, is that the CVS cannot provide the peace of mind we so desperately want.

All the CVS can tell us is whether the sample collected during the test does or does not have a mitochondrial deletion or multiplication, meaning if we took another sample we may get a completely different result. It’s all very complicated but in essence, it was never going to tell us much.

I asked other parents of Pearsons children if they had done the test and many hadn’t. Even the geneticist was unsure whether we should go ahead with it. With a risk of miscarriage, it was a tough decision. In the end, after many sleepless nights we went ahead with it. The theory was that it might not give us the all clear but at least we would know that we had done everything we could to ensure our unborn never has to battle this disease and if fate should have it that this child has a mitochondrial disease then so be it.

Knowing it was a sensitive issue, Anthony and I were selective in who we chose to tell about this. We knew there were people who would not agree with our decision and we ourselves were battling with it. In hindsight, the stress and anxiety caused by the procedure and the waiting for the results was not worth it and we probably wouldn’t do it again, especially given that the test is not a complete guarantee. (It is important to note that for certain genetic diseases, a CVS can confirm whether the child has the disease or not, and would therefore provide more benefits to an expectant couple).

We were lucky that we didn’t have a miscarriage and even luckier that the results have come back all clear.

One of the things that did come from test was that our baby was going to be a boy. This came as quite a shock to us as we had convinced ourselves we were having a girl. As a parent of child with a disease we were obviously thrilled that the baby was healthy but as bad as it sounds we were also a little upset that we were having a boy. It was not that we preferred girls over boys, we have genuine concerns over having a boy and here is why:

1. I have a high risk of getting pre-eclampsia again and I was also recently told that I may be diabetic. If either of these issues were to cause complications in the pregnancy, it is a scientific fact that girls have a better chance of surviving premature births.

2. For us, we are well aware that any child that comes after Aidan will always have the “legend” of his brother hanging over their head. A girl would help eliminate comparisons and would not be a constant reminder of Aidan. She could far easily be her own person. Our biggest fear is this baby will be always compared to Aidan, whether consciously or subconsciously.

So while there is a little disappointment there, we also know that whatever happens we will roll with the punches. Perhaps having another boy will be a blessing in disguise. Now if only we could agree on a name…


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