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Writer's pictureAbbi Favell-Stapleton

Our Diagnosis Story

Updated: Jan 9, 2023

It is almost Oriana’s birthday, and so it seems fitting to share her diagnosis story again in light of Down Syndrome Awareness month. It is probably one of the least positive posts I will share, but I think you can see from her ‘Day In the Life’ video that this isn’t reflective of our present!


My Pregnancy...

I was a first time mum – this was my first pregnancy and on the whole all seemed totally normal throughout. The only slight exception being that I had extra scans due to my below-average BMI (in fairness, I had struggled to eat for the first 3-4 months of the pregnancy!), all of which showed a very active and perfectly healthy baby kicking away inside. We chose not to find out the baby's gender; whoever was cooking away in there was a complete surprise. No 3D scan either – they freak Stefan out!


Stefan and I were both under 30 and so weren't a high risk category for the pregnancy, but agreed to the test carried out at 20 weeks gestation to check for the possibility of Down Syndrome, amongst other diagnoses. The results came back confirming that we were given a low chance of the baby having Down Syndrome (about 1 in 3000+) and so we were not offered any further tests and never thought about it again. Instead we just focused on trying to make the most of our remaining baby-free time, with the weeks quickly flying past.


The Birth...

We had a few bouts of reduced movement from the baby at 37 weeks, and my bump was suddenly measuring a month behind, so it was decided that I should be induced. My labour was very short and intense (back to back is NO joke) and mostly without pain relief, leaving me in a lot of shock. The baby's heart rate and blood oxygen was dropping so I was rushed through for an emergency cesarean, but ended up giving birth on the operating table with Stefan barely even in the room yet (there were a lot of other people though, so a random medical guy wearing scrubs, a funny paper hat, and a surgical mask was unfortunately held by the throat for the duration...). With regards to all the above, I don’t know how much of this was because of my body and just the pregnancy, or what may have been different if my baby didn’t have health issues?


Once the baby was born, the midwives announced that we had a baby girl and reported that she had scored 9/10 on the Apgar score – this apparently means 'really healthy'. However, I didn't get that rush of love and emotion that a lot of mothers describe; I couldn't even open my eyes to look at my baby for the first 15 minutes. I felt almost numb with exhaustion and shock. I was shaking from head to toe and in a cold sweat, and so Stefan held her first. It was another half an hour or so before I had the strength to put her against my skin, and to be honest I still don't think I was really with it – most of those first hours with her were a complete blur and I didn't feel 'present' at all.


The First Ten Hours...

In the following hours however, even in my disconnected state, I could tell the midwives were becoming concerned about the baby. She had been put in some warm clothes knitted by volunteers and kept being put against my skin, having her temperature taken, and then being stuck under a little baby toaster (probably not the technical term, but it should be). Apparently she just wasn't staying warm enough; her temperature kept dropping and she wouldn't wake up. She wasn't feeding, was very yellow, and had barely made a sound since her arrival into the big, wide world. The midwives were asking me questions about my health during the pregnancy, and announced that the baby was taken away to be treated for suspected sepsis. (Stefan kindly reassured the nurses that the baby was probably yellow because she took after me; apparently I resemble a Simpson. Which to be honest, I can't really argue with. I am kinda yellow in the winter.)


I hand expressed colostrum into syringes to feed her, but it wasn't enough to give her strength. She stayed in the neonatal unit whilst I stayed in my room on the maternity ward. To be honest, with it being our first baby neither Stefan nor I really understood that this wasn't a normal part of a baby's first day in the world. Stefan went home to shower and eat, and I just waited in my room for an update, which I thought the nurses had suggested would come quickly.



The Diagnosis...

After being in the neonatal unit for a few of hours with our daughter, the consultant and nurses came into my hospital room to speak to us about the course of action they were taking to treat the sepsis. After discussing the treatment, the consultant then went on to say “...and I don't know if you have noticed, but your baby looks a little different from other babies. The facial features she has, combined with a few other factors, make us suspect she has Down Syndrome...”. The consultant advised that we should wait for the test results to confirm this, and that we should try to refrain from Googling information. He said this was because a diagnosis of Down Syndrome now is totally different to a diagnosis ten or twenty years ago – he was worried we would read outdated information. The doctor was very gentle with his news but then carried on talking about how she may cope in the future and where we would go from here, but I hadn't managed to keep up with the information following that initial sentence.


You could tell it was hard for him to break the news to us, and the nurses were so kind and gentle. I remember feeling that my face had gone really hot and that the room was swimming, it was almost like the doctor's voice had been amplified to an uncomfortably loud volume too and I was struggling to take anything in. My initial reaction was one of complete shock – they must be wrong, how could it have never been picked up before? Especially with my extra scans? We had everything checked! The shock then turned to fear as I realised this was something that I would now have to work with for life; forever my future would be changed to include Down Syndrome, whether I felt strong enough to handle this or not. My mind raced ahead to the coming years- I was terrified I wouldn't be strong enough to be her mother, worried that she wouldn't get on well at school or make friends, concerned for our relationship as mother and daughter, and wanted answers on how other people would treat her and if she or I would ever be happy again. No one could properly answer any of these questions, and that only increased my fear of the unknown and our future. I would say I maybe felt like this for at least the first couple of months after her birth before I truly knew that everything would be OK.


...And then more diagnoses...

Later that evening, the doctors told us about the link between heart defects and Down Syndrome. They said they had picked up a heart murmur and so they had booked an ultrasound for our baby. On the way to the appointment I felt apprehensive but not overly worried; her heart had been checked at every pregnancy scan- surely that would have highlighted any of the defects they had warned me about? However, the ultrasound revealed three heart defects – a hole at the top of her heart, a substantial hole of 6mm between the bottom chambers of her heart, and an additional passage between the two main arteries of her heart. Apparently the type of heart defects she had wouldn't tend to be picked up during pregnancy ultrasounds, which is why we had no clue before. She would need open heart surgery in the upcoming weeks, we were advised, but at the moment she was just too small to operate on. I couldn't even think about this, I am completely squeamish and the idea of my tiny baby being cut open for what sounded like the scariest operation wasn't something I could comprehend.


Then, when she was still less than a week old, blood tests also revealed her to have a congenital under-active thyroid. I was told she would need to be on medication for life to treat this; without it her brain would not grow, she would continue to look jaundiced, she would have restricted development, and all her body's chemistry would run slowly and struggle. Regular blood work was to become routine for the foreseeable, which terrified me – more blood and needles.


How I felt...

By now the back to back observations, appointments, and phone calls with what felt like a constant stream of bad news were a lot to manage. I was still in a lot of physical pain from the birth (the nurse was allowed to give me ONE paracetamol for pain management LOL – that low BMI again, cheers!), but I remember thinking that it felt right – it matched how I felt on the inside and everything about me was hurting. For almost 9 months I had imagined my life with another baby and with another type of future, it was a grieving process to come to terms with the fact that what I had pictured wasn’t right. My baby was different to the one I had imagined, and my future was going to be different. I remember looking back on photos of my pregnancy and feeling like I was still due the baby. It took me a number of weeks to understand that specific pregnancy was related to the baby I had in my arms. I was scared of answering any more unknown numbers, worried that it was yet another Dr calling to give me further bad news and that I would just completely crumple if I had another thing to deal with. My anxiety was pretty high.


This was definitely the hardest part of the first year. It is so hard to be handed your tiny and perfect baby, and be told that they will have to work harder to achieve what their peers do, that their little body isn’t working with the good health that other newborns take for granted, and that you couldn’t protect them from any of it. In actual fact, not only did you not protect them from any of these hardships… but your body did this - that is how I felt at that time.


I felt a lot of guilt as a woman and as a mother. I felt my body had let my little girl down; that I had somehow formed her 'incorrectly' & failed at pregnancy - something that I thought should have come so naturally. Maybe I didn't eat right at the start of the pregnancy? Maybe if I had been less underweight my body would have been healthier for her? I worried other people would look at me as a failure too, & that my body had let my husband down as well as my little girl. (I know now this isn't the case, and that she is the most perfect gift given to me by God, & that she was designed this way from conception. I'm just being honest about where my head was at during those first few weeks and months, so I can explain how far we have come on our journey to where we are now).


I felt jealous when I saw other new mums, or mums-to-be. They were going to get the experience I never had; they would have those blissful first few days with their baby and just be able to enjoy them and concentrate on falling more in love with their little one. They wouldn't have a constant stream of nurses and consultants in their room, trips to the neonatal dept., scary diagnosis and tests one after the other, and having hard conversations as we tried to explain to everyone how much our world had changed in the last few days. She was my first baby and I felt robbed of our first few days together and the experience I thought we would have as I welcomed her to the world. I was so jealous of the other mums who got what I thought I should have in terms of an experience without so much hurt, grief, and fear. This later turned to anxiety – being around pregnancy posts/ birth announcements/ baby showers pulled up a lot of memories of my baby's birth and the hours and weeks that followed.


My heart broke as we sat in hospital waiting rooms - seeing visibly poorly children and trying to adjust to this being somewhere where we ‘belonged’. I am so bad with blood and needles and medical environments, always have been. My sister is a children’s nurse, I just thought someone like her would be so much better equipped for this type of parenting. I wasn’t sure I could be strong enough for my baby.


How Stefan coped...

Stefan initially had to face a lot of the emotions that I did – shock, fear and grief. However it seemed he processed these feelings more quickly than I did and was a lot less scared about the future. I think this is due to him being someone who lives in the present much more than I do (I am working on this!) and so was able to enjoy what a perfect baby she was on a day-to-day basis without worrying ahead about what type of school she would attend and whether other children would invite her to their parties. From the moment she was born you could tell he absolutely doted on our little girl, and is still obsessed with her now. This never changed when we were given the diagnosis. He found it easy to shower her with love. He wouldn't stop taking photos of her and didn't want to put her down!

Stefan and I had a conversation about how we felt as soon as the consultants left the room on that first evening. We agreed that it didn't change how much we loved her, & that together we would provide the best life for her that we possibly could. We felt fiercely protective of her. But it was certainly very hard to imagine how our future as a family would look.

----------------------------------


This feels like such a heavy and negative post... and whilst it kind of is, I want to try and be as honest as I can about my starting point on this journey. I get messages from other new mums who have just had the same diagnosis as I had, but feel like they can't cope or won't be able to move on from the place they find themselves in. I don't think they realise where I started from, as my Instagram posts almost three years later are from a place of total peace, acceptance and happiness. Some parents receive these diagnoses and take it all in their stride without even needing to catch their breath, and I am so pleased for those people... but that isn't my story. Which is why I want to reassure anyone reading this who feels like I did, that despite any lows you may feel at the start, the journey will turn out to be so worthwhile. All the worries I had for my daughter were not necessary, and I hope that the parts of my life I feel able to share will help diffuse any anxiety anyone else might have about what the next chapter of their life will look like.


I will be back soon with a more positive update, but I feel that some honesty around the start of our journey was necessary.




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