Despite being told that genetic testing would hopefully provide us more answers as to why Astrid was so unwell, to me these tests were the end of a long road. There were so many tests done before we got to the genetics stage that I figured this would give us the answers we were looking for.

While Astrid was in hospital we know she qualified for rapid genetic testing and then sadly when she passed away that testing was stopped. We’re still not sure why they were stopped because we were told that results would simply take longer now that she had passed away. This made total sense to us because she qualified for rapid testing because the results could have helped with a treatment plan, and now it is just for answers.

About 5 months after Astrid died we had an appointment with Clinical Genetics to discuss what information we did have. Understandably we were expecting results and hopefully some answers, sadly we were met with lots of family history questions and the decision to consent to testing. We had already done that in hospital and as part of the consent for postmortem. It was so hard to be so far along without anymore answers. Despite this, we consented to the testing (obviously!) and started the countdown of the 3-4 months we were told.

Unexpectedly I had a call that our Clinical Geneticist wanted to speak with us. This was two months after the testing started so I felt very hopeful this meant an answer. It did, kind of. We did have a little more of an answer, which was that one of the genes they were looking for did show a variance to what they expect to see. However, it is not a variant seen in the general population which means that they don’t know if it is the cause or not. If my husband or I have it then it is an unremarkable quirk of our family genetics and wouldn’t be the cause of Astrid’s illness. If we don’t have it then it may explain it.

I’m not sure where either answer takes us but for now we wait while our bloods are tested. I haven’t come across anyone who has had this experience, which just adds layers to the complexities of this new rare disease world we find ourselves in. I figured it was carrier testing and that was that, but that hasn’t been our experience so far.

It has been a long road already to get to this point and I worry it is not going to be over anytime soon. Genetic testing in our family started when Astrid was only a few days old, when her symptoms were suspected to be caused by a genetic issue. We are 8 months away from that now. I was worried during this period of waiting, that facing genetic testing meant knowing that any future children have a chance of having the same condition that Astrid did. I didn’t anticipate the alternative that we may never know the cause of the disease and the uncertain future that answer may hold.

We treated ourselves to matching yum yums after our matching blood tests and now we wait.