Another Unexpected Twist

In another unexpected twist, we were eventually referred to the geneticist, and have now been given a THIRD diagnosis for Holly's cause of death. At this point, I am beginning to accept that we will probably never know for sure what caused her condition. The certainty I wanted and needed looks increasingly less likely, and we will have to settle for a "best educated guess" having ruled out other testable scenarios. It will be four-five months before DNA testing rules out a genetic cause. After that, we have to go with the geneticist's theory of "most likely cause" which is Amyoplasia, a developmental muscular condition with no known reason for onset, but which occurs at some point in pregnancy and is not usually fatal. Unlike both previous diagnoses, there is no explanation for this condition; it is neither genetic nor chromosomal, and is not present from conception. It is not degenerative, and not usually considered "incompatible with life," all factors we had previously accepted and "come to terms with." We now have to come to terms with the fact there is really no explanation or reason, and it seems incredibly unfair that she died, where other children have lived.

I will spend the rest of my life wondering if I caused her condition in some way (did I drink too much before I knew I was pregnant? Did I have the bathwater too hot? Logic says no. Medical professionals say no. But nevertheless, I will always wonder, and I will have to live with those questions).

I have been in touch with a British charity who specialise in "Arthrogryposis Multiplex Congenita" which is the umbrella term for her condition - most likely Amyoplasia (a form of AMC). They have been able to answer many of my questions, as I basically hit a brick wall trying to research this condition. It's fairly rare so there isn't a huge amount of information out there, and I was unable to find other examples of infants who'd died at birth. The charity were able to help me understand a little better, and basically, I have to mentally accept that despite this new diagnosis and the fact that others have lived with this condition, sadly in Holly's case, she was just too poorly. It wasn't Edwards Syndrome as initially thought, but it did have the same effect, the same physical symptoms, and ultimately - the same outcome. I have to accept that nothing could have been any different. I've had to re-read my own blog post in light of the most recent diagnosis, and try to reassure myself that nothing has changed. The reason behind her condition may be different but the end result was exactly the same, and there is nothing we could have done to save her.

Again, it is a lot to get my head around. This third diagnosis lacks the certainty I craved, and it raises more questions than it answers, making it hard to accept. Assuming that it is correct, I am of course, incredibly relieved that there are no further implications for my immediate family. But it is hard to accept that there is no explanation for why it happened, we were just incredibly unlucky. It's equally hard knowing that in theory, she could have lived... But in practice, the fact remains... She lives on, only in my memory, and through those her story touched. I can only hope and pray that her life meant something, and she is never forgotten.