My inspiration for this site is my daughter Sarai, my first child, who was born at 22 weeks and did not survive the
In mid 2016, my husband and I had a surprise positive pregnancy test. With four boisterous kids already (1 girl and 3 very lively boys), and my husband having adamantly voiced numerous times that our family was 100% complete, it came as quite a shock to both of us. Hubby struggled to get his head around things, and I having already had four kids, was worried about whether my body would hold up one more time, what people would say, and how I would manage the physical stresses of being pregnant while juggling four kids. . . Little did I know that these worries would be nothing in comparison to the journey that was to come.
At what we had thought was 7 weeks, I went to have a dating scan… (as to be honest, neither of us knew quite how/when this little surprise had come to be). During the dating scan we were told that although they could see a sac, there was no visible baby inside. I was told to return in 3 weeks, get HCG blood testing in the interim and to expect the probability of a ‘blighted ovum’ (a pregnancy where the baby fails to develop and results in early miscarriage). Funnily enough, although our bub was not planned, those words hurt, and the wait was a difficult one, and then when I returned 3 weeks later (expecting to be told similar news), the ultrasound technician smiled and informed me that there was now a little baby with a perfect heart beat fitting the dates we had first thought. We came to accept this news (and although hubby took a little longer) we came to be positive about this new arrival.
Our 12 week scan went perfectly. I battled through constant nausea that made family life a challenge and persisted till around 20 weeks. We informed family and friends and continued to move forward.
Then came the 20 week scan. I went there excitedly hoping we might level out the gender equation in our family a little better, but smiled anyway when the tech informed me there would be yet another little boy. However shortly after, another doctor was brought into the room to assist with the ultrasound, and we were informed that there was a problem with our baby’s heart… and at that point MY heart broke. We went from shock and surprise, to acceptance, to fear and devastation. We were then made to wait about 3 weeks before we were able to be seen by a specialist in maternal fetal medicine, where it was confirmed that our baby had a complete balanced AVSD (a heart condition where the baby has 2 holes in their heart and their heart vales are fused together – meaning they essentially have one heart valve instead of two).
We were advised to get an amniocentisis (as AVSD is the heart condition most commonly associated with down syndrome and other chromosomal abnormalities). We were told many people in this situation choose to terminate the pregnancy and to go home, discuss things and come to an agreement on what we wanted to do. We were also told to pretty much expect the likelihood that our baby would have Down Syndrome.
The devastation of those words, and what it does to the hopes and dreams you’ve created for your little one, is indescribable.
And so …. I googled! I googled everything. And what I found was Mums of children with Down Syndrome reporting how amazing their children are, and how much joy they bring to their lives every single day. Parents who don’t downplay the challenges, but would 100% not have it any other way. I saw pictures of happy children, stories of heart operations (successes and the opposite), and realised that the biggest reason I was hurting was because I felt like the medical world thought my baby wasn’t worth it. Although I was scared, there was not a piece of me that wanted to give up on my baby. (And please know, this is simply my story and my journey, and I fully accept and respect the challenges and the personal nature of decisions such as this one – No judgements here).
We declined the amnio, but went and had an NIPT test done which came back ‘nil detected’ for 5 of the more common chromosomal abnormalities, including down syndrome. However we were repeatedly informed that the only certainty is an amnio, and that there are many more chromosomes that can cause rarer genetic conditions. We were advised that AVSD rarely occurs in isolation, and repeatedly offered the amnio and reminded that medical termination at any time in the coming weeks was available. We met with a cardiologist who advised that our baby would need open heart surgery (between 4 and 6 months of age), but that although he would require lifetime monitoring, it has a great prognosis and if the surgery is successful he should lead a long and normal life. This was scary, but positive.
The rest of the pregnancy was filled with ultrasounds, and suspicions of numerous things (limbs measuring below the 2nd percentile – possible skeletal dysplasia i.e. dwarfism – of which some forms are lethal, reduced growth velocity, left sided gall bladder, gestational diabetes). There was nothing fun about this.
BUT…. We took a leap of faith. We chose to hope for the best, to believe that whatever the outcome…. somehow we would have the strength to manage…. and that this little surprise baby was given to us for a reason. I wanted to know that no matter what I had given him every chance. I tried to stay calm, to stroke my belly when he moved to let him know he was loved, and to eat well. We prepared our kids for the fact that this wasn’t a normal pregnancy, that bub was very unwell and that he would die without surgery (and that sometimes the heart is worse on the outside than what they can see via ultrasound). On the day before I went in to labour, all the kids put a hand on my tummy and told him they loved him no matter what. I have a beautiful photo of this moment. No matter what, he was loved and he was real.
The ending of this story is by far the best part. Despite all the stress of the pregnancy, my little man came into this world safely. He was tested for chromosome issues at birth and was given the all clear. He does have a complete AVSD as well as a 3rd hole in his heart, that is separate to the first condition. He was also born with a 6th toe on one foot that is joined up with his baby toe (which my kids all agree looks like a little love heart, and makes him all the more special given his heart condition).
Today he is 5 months old. He is tiny (only 4.3kg), but to date he has been surprisingly well, and he has brought us SO much joy. Words can’t describe. He smiles all the time, at any unsuspecting person who happens to look his way, and my Mum often says that it’s almost like he “just appreciates life more than a regular person”. He is a true miracle and a true blessing, and he has taught me and my entire family the biggest lessons in faith, trust, unconditional love and how strong we can be even when we don’t think we can cope.
We have just been told he now has all the symptoms of heart failure. He has been placed as priority on the wait list for open heart surgery as he is no longer gaining weight, his liver is enlarged and his breathing is becoming more rapid. While I am scared (terrified to be exact), there is nothing I would change. And Samuel, he is still smiling (basking in the hugs and kisses of siblings who have accepted him as he is from day one). Our beautiful baby hasn’t got a worry in the world. He wasn’t planned, our journey was in no way easy, and the road ahead is unknown… but one thing I know for sure….. is we are blessed.