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Marc’s Story – His journey with Lissencephaly

When Marc was born on January 8th, 2012, he was a perfectly healthy newborn baby boy with blonde hair and big blue eyes… and a lifetime of adventures before him.

The first few months of Marc’s life and our transition into life as new parents was, in hindsight, a blessing in disguise, a bubble of what life could have been and a promise of hope for the life before us.

Then in June 2012, that bubble popped. At five and a half months old, after failing to thrive and noticeable developmental delays, Marc was diagnosed with a rare genetic brain malformation called Lissencephaly (smooth brain)- sounds a bit like “listen carefully”.

Lissencephaly is a life-limiting disorder. It is also a diagnosis that was forever changing and being added to. Lissencephaly caused Marc to have severe refractory (uncontrolled) Epilepsy, Microcephaly, Global Development Delay (GDD), Cerebral Palsy GMFCS level V, Chronic Lung Disease, Dystonia, Dyskinesia and Cortical Vision Impairment (CVI), to name a few, and left him severely disabled. No longer did we have the dream for what our child’s life would be, we just had a great unknown and this beautiful baby boy in our arms, who we now suddenly would not see to grow to be an adult, nor reach all the milestones he was meant to.

As you would imagine, with a diagnosis like this, Marc had many challenges before him, one of which was feeding difficulties which resulted in him aspirating when fed orally. He was fed via a nasal-gastric tube from the age of 11 months to two- and a-bit years, and in March 2014, he had surgery to insert a PEG/PEJ tube. Another change, another moment of grief as we thought, once again, just how different our child’s life is from that we had thought he would have. No longer could our boy enjoy the taste of food and eat as he would have done. But we learnt this new “new” and we rolled with it, and the many new “news” to come.

These diagnoses and evolving list of comorbidities (a word I did not understand before this journey), just rolled off the tongue after a while, as did his ever-growing list of medications. I had become the “medical journal of Marc” with multiple volumes and extensive chapters. A master’s degree that I never signed up for, but none the less was the subject matter expert of.

Over the years, Marc required the continual care and support of many Specialist Consultants and their medical teams, allied health care professional, in home nurses and most of all, from us, his loving family, to provide 1:1 care and 24/7 support. But this care was beyond anything that would normally be what a parent provided. And at times this level of care, and those moments when we’re forced to look back through the window of our life, our child’s life, to see how different it is, how much our Marc goes through, how many things we “do” to him and how most days we wore every other hat (nurse, doctor, physiotherapist, OT, speech pathologist, counsellor, pharmacist, medical expert, mind reader, communication partner, chauffer, emergency responder, teacher, liaison officer, personal administrator, advocate…) but we very rarely just get to wear our parent hat, to be “Mum” and “Dad”.

We had the constant fear that his seizures or an illness may result in him regressing and the very real possibility that he could lose the few skills he has worked so hard to acquire or one day lose his life.

We did everything we could as Marc’s parents to give him as much opportunity as possible to reach his potential – whatever that may be. I will never forget that day Marc’s neurologist told us that his brain did not develop properly in utero, and the first words I could speak were “will my baby die?”.

And I will also remember how this same caring man, when asked “what will he be able to do?” responded without hesitation, “Marc will be Marc, he will be all that he can be and do all that he can do” and that there, that gave a glimmer of hope and was like a call to arms, to my inner advocate. It gave us a driving force and a belief that anything is possible, and that our beautiful baby boy will be all that he could be and that he would shine bright in his own special and light-filled way.

In Marc’s short lifetime, since his diagnosis, he attended well over 500 appointments and countless hours with medical professionals and therapists. Over 50 hospital admissions (some lasting as long as 2 months), PICU stays and multiple ambulance trips with lights and sirens… paramedics, doctors and nurses liaising with us as if we were “one of them” because I was the expert in my child. I was his medical journal.

Our transition on to palliative care was one that we struggled with initially and a topic that came up a few years prior and one we ran as far away from as we could… we ran to the hills! Once we made the call that maybe it was time for some additional support, and after some confronting conversations, discussing things that no parent ever thought they would need to make decisions about or plan for, we felt a sense of relief wash over us. It was as if we were given a licence to LIVE! It was a cathartic release of knowing that we had had those discussions and though nothing had been set in stone, we had a plan and we had guidance and support, with our entire team a part of the process. We were a part of the process, an integral part. And it was at that point we renamed palliative care to quality-of-life care, because for us, it was about living, not dying. It was about being empowered to support our boy and knowing that he was being heard, and we were being heard.

When the day came that we knew would one day arrive, the day we dreaded with every ounce of our being, we were able to be at home. We were able to bring our boy home to sit under his favourite trees, to feel safe and be surrounded by his things and his family. In the end, just as Marc had always done things on his own terms, it was on his term, snuggled up in his warm bed that, he drifted off to sleep and slipped away. Forever our sleeping angel.

There are so many things I could tell you about our boy and his journey and our journey with him. How even with all that he went through and experienced in his short life, Marc was a happy and loving child with an amazing personality, who loved life and everyone in it. He was adored by all who knew him and all who met him fell in love with him and his big blue eyes and light blonde curls. He is, and forever will be, our Blue-Eyed Hero!

Every day we travelled the roller coaster ride that was Lissencephaly. There were ups and downs and many an obstacle at times, but together we held on tight and faced each day head-on… And to this day, we still do ride this roller coaster, holding and white-knuckled at times.

However, this part of the journey, the part that lasts for the rest of our lives, this is one we do without our boy in our arms and with a big Marc shaped hole in our hearts. We see life very differently now and we see the beauty in the smallest of things, something we may never have even noticed, had Marc not shown us. We see colours in the rainbow of life, that without him, we could not have been able to see. Because of my Blue-Eyed Hero, I live each day striving to make a difference, to be a part of supporting other families and children, helping them through their “roller coaster” rides after that bubble has been popped.

And that is why I cannot tell you how excited I am to be a part of this project – great things are going to happen because of it, making a tangible difference in the lives of children and their families across all stages of the palliative care journey from the “quality of life” through to the end-of-life stage, and then the supports for families and siblings after as their journey continues without their beloved child in their arms.

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Paediatric Palliative Care National Action Plan Project

The Paediatric Palliative Care National Action Plan project represents a unique opportunity to support health professionals to respond to the specialist needs of children with life-limiting conditions. The project will also address the needs of parents and carers seeking assistance to care for a child with high medical needs and life-limiting conditions.
 

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