Sam – Microcephaly with Simplified Gyral Patterning

Sam – Microcephaly with Simplified Gyral Patterning

Hi! Im Steph, a 37 year old Mum to my 2 baby reds. I live in Inverness. Scotland with my husband Kris and our 2 aforementioned wee ones. In 2007 we settled back to our hometown after many years of travel, fun and frolics round the world, living our living our lives to the max! We married in a winter wonderland in December 2009 and Molly our first baby was born 12 months later. Molly is fun, outgoing and bright and most definitely the best big sister in the world to Sam – who is 3 1/2. When I was pregnant with Molly I developed Pre Eclampsia and she was born at 39 weeks gestation. We enjoyed 3 years of love and fun with her and then we decided the time was right to expand our family. We were so excited to give her a brother or sister and again we were lucky enough to enjoy a healthy pregnancy. However – as I had pre eclampsia with Molly I was given regular growth scans to ensure this baby was growing normally. Coupled with routine scans I had 11 in all – 11 scans where we were told EVERYTHING was fine.

18 September 2014  – the day our lives changed forever. This was the day Sam Cooper was born. Weighing in at a very respectable 8lbs 1oz. He came out crying, we were told all was well. That was until I overheard a midwife say to my husband ‘His head is a bit smaller than it should be’ – I thought my heart was going to stop as I immediately remembered all the scans – my brain trying hard to work out had we missed something.. but we hadn’t. From 32 weeks gestation at every scan each sonographer told us that his head was too engaged for them to be able to measure it. BUT we were reassured every time that everything was fine – as it should be. That this was a regular occurrence. We quickly conferred and decided that all must be ok – they had always told us all was ok – hadn’t they???


We were taken to a ward and a steady stream of doctors and nurses came to see us. ‘It must be positional – he was squashed inside’ said one – the next bringing us forms to sign to consent for genetic bloods to be taken. We were frightened, confused and knew this was not the experience we remembered and loved when Molly was born. The time passed so slowly – nobody could give us any answers – was he ok? was he not? The doctors said he ‘handled well’ –  the size of his head was the only thing that concerned them (a mere 3cm smaller than his sister – but apparently enough in the world of a newborn baby to cause great concern).

Next step – SCBU where they began arranging testing. No ‘waiting and seeing’. Sam had a brain MRI at less than 24hours old. the results were quick – ‘microcephaly with simplified gyral patterning’. Thought to be as a result of some genetic flaw. More than 3 years later – we still do not have results from these tests, and are now on yet another study to try to find answers.Our geneticists continue to believe there is a genetic reason for Sams brain to be ‘abnormal’.  The floor fell out of our entire world that day as we began our road to try to make sense of what on earth had just happened to our baby – to us – to Molly – to everything we knew. The next day Sam showed his first sign of seizure activity and was given an EEG which confirmed our tiny little baby had epilepsy. More worry and heartache ensued. We were devastated. Totally bereft.


We were discharged home a week later.. followed by a herd of health professionals knocking at our front door regularly. Our lives changed that day in a manner of ways. The next few months (or years if Im honest) passed us by as we waited on tenterhooks to see how Sam would be affected. Uncontrolled and scary seizures appearing whenever they felt like it. Molly had never even had a blood test – Sam had been poked and prodded so many times in so many different ways, my heart broke for him and his tender little life. It also broke for myself and I entered what I can only describe as ‘grieving’ – I grieved for the little boy I held in my arms. How can you grieve for someone thats alive I wondered. But I knew my grief was real. Some times it hurt so much, it took the breath from my lungs. My brain never stopped, thoughts, thoughts, thoughts. It was exhausting. We threw ourselves into fundraising for our local special care baby unit and Childrens epilepsy charities to try and channel our hurt.  I still grieve, but it has lessened. Every day I guess there is some kind of ‘kick in the guts’ feeling. Sam has had a recent diagnosis of dystonic cerebral palsy. He has mixed tone and this is a constant struggle, getting it right with medicines etc.

Where we live there is no ‘hands on therapy’ available. We wandered round in a daze just hoping that Sam would in time hit developmental targets naturally like his sister did. Wish as we might – it didn’t happen.  One day, just over a year ago, my friend Lynda came across something called CME therapy. On facebook. A video of a therapist. I contacted the therapist and she was 600 miles away. We saved and we took time off from work and went to London for 8 days and we were amazed. Something inside us came alive. We knew that even though our geographical location had nothing to offer – we knew we had to get out there and travel the distance and work as hard as we could in order to give Sam the best chance. Family and Friends set up a campaign and have raised tens of thousands of pounds for therapy and equipment and we have visited London several times for CME and also to Kids Physio Works – an amazing centre in Essex, where one of their fabulous physios now travels to see us!. Our community has come together in a variety of ways to support Sam and give him the very best chance that he can get in life. This has enriched our lives and the lives of so many people round us in more ways than we could have ever imagined. Sam has been a complete blessing in our lives. He may be unable to speak, but he is certain of what he wants. He may be unable to walk, but he loves being on the move. He is an absolute joy to be around and him and Molly may not have a stereotypical sibling relationship but they love each other wholeheartedly and when they look at each other there is such love and deep connection.  Life is not straightforward, its certainly not easy – we aren’t sure why we have been dealt the hand of cards we have… but we are playing the hell out of them. Its taken us time to be able to do that – but now we are on the road we are, we are stronger than ever and focussed on giving Sam and also Molly the best chance that we possibly can.

Follow Sam on Facebook @Supersamdouglas

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