Our due date....and further test results
Yesterday was Laura's due date. It's surprising sometimes, how you do find the strength to soldier on.
I would like to share the next part of our story, for those who may be searching for information as I was; as to possible outcomes.
We consented to Laura having an autopsy to confirm the diagnosis, this was quite scary, as I was petrified they would come back and say, "sorry, we got that a bit wrong, not quite as a bad as we thought". But that was not the case.
Firstly I would like to say, we had the support of the Fetal Management Unit at the Royal Womens Hospital in Melbourne. They were fantastic and couldn't do enough for us, in providing information to assist us in making decisions (would never once tell us what we should do - and we asked!), to helping explain results, and sometimes answer the same questions. They have all the specialists down one corridor. We spoke to Neonatologists, cardiologists, geneticists, psychologists, social workers, obstetricians and their fantastic coordinator a midwife (and Mum) during our many visits.
We now know that (as a result of a new DNA array test) that Laura was missing some DNA, not chromosomes, but small peaces of DNA. These particular DNA are linked in with the heart. Laura's case so far is unique, however some similar cases (missing less DNA than Laura) show children with significant brain damage; delayed speech, lack of muscle control to name a few. She was also extremely small - less than the 5th percentile for her gestation.
In summary Laura had three major issues - severe growth restriction; the DNA deletion; and the Hypolplastic Right Heart. The geneticist explained to us that each one these issues was potentially fatal on its own, let alone stacked upon each other. It appears that each of these issues were interdependent, not isolated occurrences.
Had we not made the choice we did - when we did; we were probably going to be faced with a similar dilemma in another couple of weeks due to her restricted growth, to deliver early (c section) or allow her to die in utero (due to the placenta not feeding her - it was equivalent to that of a 14 week at 20 weeks).
At the same time; for heart surgery to be successful, we were constantly told, she would need to be full term and a good weight. On top of this, apparently, given the genetic condition, cardiologists often refuse to operate due to the poor chance of recovery.
We received many answers from the geneticist, from this new test (and testing my DH and I) they could tell us that Laura's condition was not inherited (which also means our son and daughter will not be impacted by this) and if we decide to try again, we are back in with everyone else at our age when it comes to risk. One other answer was that this occurred at conception - so there is nothing I could have done to have caused this.
While yesterday I mourned the loss of my daughter, and the dreams that we had for extending our family; some of the guilt has been lifted, as realistically I know that had we elected to proceed; Laura would never have made it to term; not even close.
I hope my story is not over; we have decided to try again. We will still go through extensive testing (more for peace of mind; and my age than for medical reasons alone); but again with the support of the Fetal Management Unit (FMU) we have our plan mapped out.
I need to smile again and look forward with a positive focus. For me this is what I need to do, for Laura and our family.
Take care
Nicole
xoxo
