Pieta Harris – Story

Matilda – ‘Isolated complete ACC’ (secondary colpocephaly, absent septum pellucidum and absent cingulated gyrus)

I have written our story many times… and with each time I notice changes, not so much changes to the details but changes to the way I see it all. Changes that have naturally come as not only Matilda has grown and developed, but changes that have come as I have not only learnt to accept my daughters diagnosis but have also learnt to appreciate her for who she is and have become a better person through the entire journey.

I am mum to Matilda, who as I write this is 22 months old. Our story starts as most do – my husband and I planned to have baby, things were going well and as per the ‘expected route’ until I had an extra scan at 31 weeks (which was basically the GP being nice to me and letting me have another look!). Being the pedantic person I am I requested the GP receptionist fax me a copy of the scan results and there in black and white was our first indication that something was ‘wrong’… …Lateral ventricles of 19mm (normally <10mm)…

The chaos began. We attended follow-up a week later with the major women’s hospital 3.5 hours away and still to this day, so very clearly I recall the ultrasound specialist confirming the diagnosis of ‘severe ventriculomegaly’ and stating right away “If you know you want to terminate we won’t run any further tests as it’s not cost effective”…Considering we didn’t yet know what ventirculomegaly meant, nor that termination at 32 weeks was even possible, we politely declined and opted for more tests. That same day we met with a further three specialists in which another two echoed the previous specialist in wanting to ensure that we knew we had “options”. It’s funny what you take away from a day like that. We took away the idea that termination was being encouraged, even though as I reflect they never actually said we should – I guess it’s the manner in which news is delivered, and how the “options” are continually presented. We were given odds of less than 30% chance of our ‘foetus’ following a normal – mildly delayed development process, with the other 70% being moderate to severe development and words like intellectual disability, cerebral palsy, no independent living, may not walk/ talk… filled the air. We again opted for more tests.

A fortnight later at 34 weeks we underwent a fetal MRI, with results then taking another week. I recall driving to Melbourne for the results. We had been told that our odds were much worse if there were other brain anomalies found by the MRI. After somewhat 3 weeks of an emotional roller coaster and terrible dreaded guilt, on that drive down we had made a choice. When I say guilt – it was nasty, I was nasty to myself. I recall feeling guilty for not growing my baby properly, letting her down, for thinking of termination, then guilty for thinking of having her – that despite how difficult her life may be I want to have my baby so I will… I felt selfish and disgusted. I was even guilty for wondering what I would do with all the nursery items! I found it hard to sleep, then when I could I would dream terrible things and wake up sweating and crying. This was probably the hardest few weeks of my life.

But here we were at 35 weeks with a kicking, turning and hiccuping baby in my growing belly, and we had made a choice! There was finally some clarity and no longer “options” hanging over our head. We were going to have our baby (although were still blurry IF the MRI had picked up terrible things and they told us our baby wouldn’t survive and would only be in pain)… We saw a different specialist who started with saying the MRI had picked up something else. My heart sank. However, she said, this gives us more hope! She explained that our daughter had isolated complete agenesis of the corpus callosum and the dilated ventricles are just secondary to that and not ventriculomegaly as such.

What a whirlwind – or so we thought that was. On the drive back home I messaged family and said we had better odds now and things were good… Only to receive a later phone call from the specialist saying her team didn’t entirely agree with the better prognosis she gave us and that she will get back to us with more details. Another wait… more nightmares… more tears. BUT we were having our baby no matter what.

We made a final trip back to the city and met yet another specialist, expecting worse news yet again but she didn’t have any. She explained ACC, our risks and put us at the riskier end of the spectrum considering the size of our baby’s ventricles. By that stage I had already read all the research studies she spoke of and been in contact with many people, so she didn’t have anything new to tell us, although she had a very comforting manner. When we definitively said we wish to keep our baby she did however acknowledge that it would have been hard to find an Ob to carry out the termination as I was now 36 weeks and Doctors do go into medicine to promote life not end it. I really appreciated this comment because until then it had almost seemed like they ‘wanted’ to terminate! Made me realise perhaps they weren’t pushing termination as I thought, but maybe just making sure we knew we had options.

Fast forwarding to today, Matilda is a 22 month old walking, talking, tantrum throwing toddler! Granted we have had some hurdles throughout these 22 months, in that she was born with hypotonia, her 3 month MRI also found that she had an absent septum pellucidum and cingulate gyrus, she developed a feeding aversion likely due to reflux pain (but I also think she was struggling with the suck/ swallow coordination) and I went through a period of being extremely anxious.

I told everyone I was coping, I functioned relatively okay – but with every strange sound or movement I pictured seizures. I worried about adrenal crisis, I worried about her development. I worried about how I would buy her a house when she was 20 years and pay for a carer for her! I honestly think I worried about everything! I remember connecting with some of the facebook ACC groups – seeing photos of children with ACC, hearing the parents talk about their difficulties… While the support of parents who have been there and done that is irreplaceable, I wasn’t quite ready… I wasn’t at a stage where I really knew what ‘disability’ meant, I took it at face value – like most people do. I saw things that were ‘wrong’, I saw ‘differences’ in photos and posts. I cried and cried thinking “will my child be like that”. I feel horrible saying this, for now I view things so differently, but at the time that was a place I was in – and I tend to think it may be a normal experience for new Mums, hence am being so open and honest about it.

It’s interesting for me to reflect on where I was and how different that place is to now. Matilda has taught me so much about life, the fellow ausDoCC parents have taught me so much about love. I no longer see ‘disability’ or ‘difference’ as a negative. Sure, difficulties can arise, life isn’t easy for many parents with children with conditions (especially unheard of or not visible conditions like ACC) but to those parents life isn’t about things being ‘easy’ anymore. Life becomes about being ‘happy’. Life becomes about enjoying time with loved ones, appreciating every joyful moment and moving through the hard moments knowing another joyful one will arise. Life is about celebrating and accepting differences and noting the ability of people, not the disability.

For me, every single milestone Matilda achieved was amazing, nothing is or was taken for granted. I doubt I would have this attitude without going through our journey. Matilda is doing amazing! No seizures, no medical complications identified, meeting milestones even if there is a little lag behind others her age. We still have more regular follow up with a range of specialists and are enrolled in early intervention services, and it is likely we will face challenges down the track. But Matilda is Matilda, and she wouldn’t be the Matilda I know if she had a corpus callosum!

Over the past 2 years I have also thought about the question of further children… As I moved through grief to acceptance to thriving so did my thoughts on the ‘risks’ with having more children. Even though we were told it’s highly unlikely that ACC would occur again, it is possible, it does rarely happen. But – the funny thing is now… that is okay with me. What is meant to be is meant to be. I won’t judge my life on what I may miss out on if I have two children with conditions of some sort, I will judge my life on what I would gain from these two special children! This sense of peace with unknown and this brighter outlook on life – I can attribute directly to Matilda and our story.