Monday, 7 September 2015

Specialist Support

When I look back at my pregnancy with Sebastian, I feel so much guilt for joking about "adoption being easier than pregnancy" when I was enduring all-day-morning sickness, or how I insisted that I wanted a girl when people suggested "I bet you just want a healthy baby"...

How I wish I could rewind to those days and pray that my little baby boy would be healthy. It never crossed my mind that he wouldn't be. 
Monday, 10/8/15, 7.50am, we arrived at the Foetal Welfare Unit within the antenatal clinic at Westmead hospital.

The tertiary scan was being completed and I found it difficult to watch. I remember looking away from the screen during the second half of it as the sonographer and doctor discussed what they were seeing. All I remember from that scan was Sebastian's gorgeous little foot.. 5 perfect little toes (a picture I never got printed or invited to keep).

In some ways I regret not looking at the screen the whole time, but I also remember watching my husband as he too avoided it and just stared at the floor. I could see his heart break.

The doctor and sonographer were lovely, but we just couldn't bring ourselves to look at our baby boy as the worst of his prognosis started unravelling (this is not because we didn't want to, but because we were trying to hold ourselves together and seeing him inside my belly moving around but being told he is not ok, is hard to comprehend). 
"Your baby has very poor bone density" the doctor explained, "his little bones are brittle, not forming and bowed". His lower spine and skull was also weak and each had some parts either missing or only faintly displayed. Feeling at fault already I told them, "this doesn't surprise me as I have low bone density too", with a disappointed look on their faces the sonographer said "yes, but you're an adult" - there we go, she just pushed me to grasp the reality that our precious little boy's health was in serious trouble. 
"Will you consider an amniocenteses?" The doctor asked, which I nervously agreed to. 

My friend had already told me about this test, except she promised me it wasn't that bad (I later learned she lied so I wasn't scared). The test involves a large needle in your stomach that goes through your uterus and retrieves some amino fluid. At the same time they complete an ultrasound to observe the baby's position. There are some risks associated with this procedure, including miscarriage, and I will be honest with you, the test stings a little and is quite uncomfortable and slightly painful as it enters your uterus. But it provides very accurate chromosome readings.

I could not watch the test be complete, I looked away and watched my husband observing what was going on. 
During the test you have to stay incredibly still to ensure the baby's safety. This was hard as I felt the needle enter my uterus, I tensed my stomach and pushed my hips up in the air. The midwife and doctor had to hold me still...needless to say, I was so glad when it was over! 

One of the obstetricians (2 were present in the room) spoke to us about what they believed Sebastian had and informed us that he did, indeed have a lethal form of Skeletal Dysplasia (let's just sit for a minute in silence and consider the ugliness of the word "lethal" to describe a diagnosis for a Baby). In one word we were being told that our little boy was expected to die.

The doctor left us with "you don't need to decide today, but we will need you to consider whether you want to interrupt the pregnancy". Tears welling up in our eyes, we agreed to consider our options and talk to them in a couple of days after the geneticist reviewed Sebastian. 

What did I need to do when I left the appointment? Get some chocolate, cry hysterically and get a hug from mum. So that's what we did. 

Later that afternoon the genetic counsellor from children's hospital at Westmead called us. We weren't expecting to hear from them until we received the amino results, but they didn't think there was much point. They collected our family history over the phone and made an appointment with us the same day. off we went.

I had spent a fair amount of time at the children's hospital as a teenager so was not as anxious about this appointment as I had always remembered feeling supported and comfortable there. That same sense of feeling was present at our appointment. 

As we walked into the hospital we saw plenty of different children who had varying degrees of disability. We spoke to each other about how hard these families have it and how difficult life must be for those children and parents. We wondered if we could live this life if Sebastian was to beat the odds (I would just like to point out that even though I work in he disability field, I recognise that there is a huge difference between being a paid carer/therapist compared to being emotionally invested in the person and to live that child's disability with them 24/7, I admire the parents who do this, especially as they often do so alone and without recognition).

The Geneticist and Genetic counsellor were incredibly nice. They told us everything we needed to know in a very caring but straight forward way. We really appreciated the time they took to talk to us. They gathered as much information as they could and filled in some gaps in our (googled) knowledge about skeletal dysplasia. They talked genes and chromosomes (and told me that the amnio test probably won't tell them anything new - great went through that for nothing!) and explained what Sebastian's measurements meant. The Geneticist informed us that his limb to body ratio was on the severe range of the spectrum, one of the most significant they had seen. She had already spoken with doctors familiar with skeletal dysplasia who also confirmed this. She went on to discuss that lethal skeletal dysplasia meant that our gorgeous little boy was expected to die within utero and this could occur at any time from now. If he was to survive and make it to full term he would take maybe two breaths before passing. If a miracle was to occur and he survived against all the odds, a prediction of his intellect could not be made, however physically he would likely be in pain, prone to fractures and broken bones, unlikely to survive past his first birthday. 

Could you imagine changing the nappy of a baby with brittle bones? With a baby who struggles to breathe because his lungs are not able to expand to their capacity because his rib circumference is too small? How incredibly painful for him, and how incredibly heartbreaking for us as parents to have to be the ones to inflict this pain on him and watch him live it. 

However, the chances of Sebastian beating all these odds were minimal and we were faced with the news that he could pass away in utero within the coming fortnight, week or even hours. Our bundle of joy was going to be taken away from us before we could even meet him. We would never get to hear his laugh, feel his hugs or his little hand in ours. We would never know how he sounded when he cried or whether his smile would light up a room. We had only known him for 19w2d and whilst he was still with us at this stage, we already grieved the life he was going to miss. 

The decision to interrupt the pregnancy was made for us, we didn't have a choice anymore as Sebastian's illness had determined his fate, and whilst we wanted to fight for him and protect him from everything, we were incredibly helpless. 

Over the next week we would attend more appointments to have everything confirmed and I would repeatedly ask all the doctors and midwives "how accurate is all this information" only to be told it's very precise. Our appointments would continue until Sebastian passed and then I would be induced... Way sooner than I could have ever imagined. 

The feelings of guilt, love and sadness were beginning to rise. 

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