World Down Syndrome Day

The 21st of March is World Down Syndrome Day, and we thought it was only fitting to ask Rudie Nudie favourite - Kathleen from @beautifullittlesoulsblog - to share her experiences with our village. It is important to note that Kathleen has shared different facts about Down syndrome every day for the month of March on her instagram, this blog is a follow on from her latest posts.

There is a lot of emphasis in the media about prenatal diagnosis of ‘unhealthy’ pregnancies, with the usually unspoken implication that this is of benefit to us, as it allows the pregnancy to be terminated. Although most health professionals try to remain ‘impartial’, at least in the professional setting, when you have a ‘high risk’ pregnancy you spend a lot of time having appointments with people whose entire career centres on identifying and ending pregnancies just like yours. To sit down with a genetic counsellor, or an obstetrician (OB), or a radiographer, or a General Practitioner (GP) when their primary objective is ‘search and destroy’, can be heartbreaking. One of the very first things I learned was to go in on the offensive - If you start the conversation with ‘termination is not an option’, you don’t hear so much about it. Still, the constant morality battle and defence of your child’s right to live wears on you in a way that I couldn’t possibly describe. Below is my story.

I knew I was pregnant almost immediately. Morning sickness is a different kind of nausea, and I knew. 4 days later and I had a positive pregnancy test. We waited a few more weeks and then went to the doctor, who referred us for a 12 week scan. We declined the 10 week bloods, just as we had with our first, Aurora. At the 12 week scan the tech was very quiet. I assumed that he was just not a particularly chatty person, but when he took the nuchal measurement I knew something was up. 2 weeks later I received a registered letter from my doctors surgery asking me to come in urgently. I went straight there, took the next appointment slot and I had barely got in the room when the doctor burst forth with, “I’ve been trying desperately to get in contact with you! You’ve had an abnormal scan and your window for termination is rapidly closing!”

This began a parade of medical professionals.

We discovered the following week that her nuchal was measuring almost 6mms, double the outer maximum for 'normal'. One OB (who wasn’t particularly skilled in tact) measured it at 8.9mm the week later. Over the following weeks I learned that a pregnancy like mine was quite the novelty for some medical professionals. At one point I found myself in the Emergency Department (ED) thanks to dehydration, and had an ED Doctor drag an old sonogram machine in to 'check on the baby'. Whilst I wasn't opposed to it, it turned out he just wanted to see what a fetus with markers for Down syndrome looked like... 

At the 20 week morphology scan we found out that our baby was a girl, and also that her nasal bone was small. At this point, coupled with a blood test that we had had at 15 weeks, our baby's chance of Down syndrome was ‘from about 1/38 to more than 1/5’. Although never explicitly stated, there was a fair amount of pressure to have an amniocentesis. It was asked at every appointment, often times at both the start and end, but it was just not something that we wanted to do. We wanted this baby regardless, and jeopardising her safety when there was no immediate benefit to her that, seemed wrong. After the 20 week scan, worn thin, we asked for a few weeks to consider our testing options. My sister had just had her first baby a few weeks before and I went to see her, held my niece, and cried.

3 weeks after the morphology scan I was at work and became very aware that I could not feel my baby moving about, she had been very active in the womb and I became quite concerned. We had just been transferred to a different hospital, so I called them and was advised to come in as soon as possible. I had a cursory scan that showed that our little girl was alive and seemed well, but because of our circumstances I was booked in for a third level ultrasound a few hours later. After a very, very long scan in which the tech was constantly in and out of the room, I was told that I had increased fluid in my abdomen (the reason I wasn’t feeling movement), and that the baby had a ‘double bubble’ and an enlarged kidney. I was sent home with a booking with yet another Genetic Counsellor for a few days later.

This Counsellor confirmed to us what we already knew – our baby now had more than a 1:2 chance of having Down syndrome. Unfortunately, the double bubble was a clear indicator that she also had Duodenal Atresia, which means that her stomach and bowel were not connected, and surgical repair was required within a few days of birth to allow her to eat and survive. Our new hospital could not accommodate these medical requirements, and so our paperwork was transferred on again to the closest hospital with a NICU and paediatric surgery unit.

Our first appointment at the new hospital came 3 weeks later. The intake nurse asked a few questions and booked us in with an OB who was apparently ‘good with these sorts of pregnancies’ for a few weeks' time. As it was already on all our paperwork, and because we had transferred to the hospital as it had the facilities required to save our babies life, I didn’t go into that appointment on the offensive - I assumed that it would be obvious that we were intending on keeping this baby. Evidently this was not the case, and one of the first questions fired off was a ‘clarification’ that termination was definitely out of the picture.

I was 28 weeks pregnant at this time, and despite having already dealt with that sort of thing for 4 months, I was shocked to be asked so far along and said so.  The OB responded blithely that termination could be performed for 'medical reasons', up until birth. When we expressed horror at that, he stated that he too thought it was horrific, and followed that up with asking if we were Christian, saying that in his experience it is only ever Christians who choose to continue their pregnancies under these sort of circumstances. The doctor then asked if we wanted medical intervention once our baby was born, to correct her bowel and stomach issues. We knew that a lack of medical intervention would result in our baby girl slowly starving to death, and responded with an emphatic ‘yes, of course! We want her to live!’. It was one of the oddest appointments we had, and we left totally confused by his behaviour.

We saw other specialists and surgeons and had high level ultrasounds in the following weeks that showed that our girl was growing well, and appeared to be on the 70th percentile for size. We were told that she would likely be born between 35-37 weeks due to my ever increasing amniotic fluid, and at 32 weeks the fluid levels were so high that I was diagnosed with polyhydramnios and offered an amnioreduction. As an amnioreduction is basically an amniocentesis that takes a whole lot more fluid, and carries risks, we declined. We then had an appointment with the OB, and went in wondering what we were going to get that week, only to have a new doctor come and get us. He had taken on some of the other OBs appointments as the other OB was running behind. I honestly, truly believe that that was divine intervention, as this OB was lovely (finally!). Far from asking upsetting questions and making horrific assertions, he listened to my concerns and suggested that it would be best for me to have two steroid injections to strengthen our babies lungs, in case she came earlier than expected. He sent me off to have them straight away, it was Thursday the 12th of February and I had the first injection that afternoon, then the second injection the next day (Friday). And then, in the very early hours of Sunday the 15th of February we rushed to the hospital with reduced foetal movement. Our baby girl, Elva, was born later that same day, at a day shy of 33 weeks gestation. She clearly had Down syndrome and was strong, healthy and a good size for her age.