My name is Bec, and I am the proud Mum of Marc, lovingly known as our Blue-Eyed Hero and by his younger brother as “Marc(k)y”. Marc passed away on the 18th of October 2018, just two- and a-bit months prior to his seventh birthday. Our Blue-Eyed Hero shone so very brightly and taught many lessons in his short life, yet brave journey. His laughter filled our hearts with joy, his smile lit up a room and his big blue eyes, well they shone with pure love and light.
Marc was born on January 8th, 2012, he was our perfectly healthy newborn baby boy with light blonde hair and big blue eyes… and a lifetime of adventures before him. My husband and I were parents, something we always dreamed of, and our little family was now a family of three. The first few months of Marc’s life and our transition into life as new parents was, in hindsight, was 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.
Lissencephaly is a rare and life limiting disorder and it means “smooth brain”. We often say it sounds a bit like “listen carefully”. It is classed as a neuronal migration disorder and can result from a few different genetic mutations with varying levels of intensity… a spectrum so to speak, of severity and subsequent impact overall. Some hereditary and others de Novo mutations. Marc had classic Lissencephaly with Subcortical Band Heterotopia because of a di novo deletion mutation on his PAFA1B1 gene on Chromosome 17. He was at the severe end of the spectrum.
Lissencephaly was a diagnosis that was forever changing and being added to and resulted in Marc being subsequently diagnosed with severe refractory (uncontrolled) Epilepsy, Microcephaly, Global Development Delay, Level 5 Cerebral Palsy, and Chronic Lung Disease, just to name a few…. He was, by medical definition, profoundly disabled. No longer did we have the dream for what our child’s life would be, we just had a great unknown and our beautiful baby boy in our arms, who we now would suddenly not see grow to be an adult, nor reach all the milestones he was meant to.
As you would imagine, with a rare diagnosis like this, Marc had many challenges before him. But we learnt every new “new” and every new diagnosis, and we rolled with them as best we could. 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 medications. I had become the “medical journal of Marc” with multiple volumes and extensive chapters. A PhD degree that I never signed up for, but none the less was the subject matter expert of.
Over his journey, Marc relied on the continual care and support of many of the Specialist Consultants and their medical teams at PMH and later PCH, his allied health team, in home nurses and most of all, from us, his loving family, to provide 1:1 care and support 24/7. Our child was medically complex and profoundly disabled but he was so much more as well.
In those early days and years, when we were first launched into the world of “Early Intervention”, new equipment and a life where we were all of a sudden not only parents, but wore every other hat, often more than we wore our “mum and dad hats”, we had to learn a whole new way of life and living. My husband and I were determined to access all the early intervention support Marc could access and to give him every opportunity possible to reach his potential- whatever that may be.
I will never forget the day Marc’s neurologist told us that our baby boy’s brain did not develop properly in utero, and the first words I could speak were “will my baby die?”. But I will also always remember how this same caring compassionate man, when asked “what will he be able to do” responded without a hesitation or skipping a beat, “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.
Marc accessed Speech Therapy, Physiotherapy and Occupational Therapy throughout his years in the early intervention program at PMH and when possible, Hydrotherapy as well. All of this in addition to the multiple medical appointments, tests, and specialist clinics he attended regularly and the ever-growing list of hospital admissions.
It was often exhausting trying to coordinate all of these and ensure he was able to access regular ongoing appointments, not because of the amazing specialists and therapists supporting Marc, but due to the system and resources, or at times lack thereof. And then, once he was 18 months old, we were told he would need to be moved to community-based services for therapy from the PMH Early Intervention Program… I suppose, our transition was as smooth as it could be, and we were very lucky to find a team who were amazing and where our Speech therapist and OT stayed with Marc till the very end… but it was a shock to the system and another new “new”, not only for us, but for Marc. Both he and our family now had to adjust to this sudden change and come to terms with no longer being in the “safety” of the system we had known from the beginning of Marc’s journey with Lissencephaly.
In Marc’s short lifetime, since his diagnosis, he attended well over 1000 therapy and medical appointments and countless hours with medical professionals and therapists. Over 50 hospital admissions (some lasting as long as 3-4 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.
Through these years and his journey Marc built such a strong rapport with his team, and you could see the love he had for them all. Even when it was hard and challenging, he gave it his all and he was rallied around and supported as he reached for his potential and achieved his own milestones.
He was a happy and loving child with an amazing personality, who loved life and everyone in it. Marc 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 on 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 supporting other families and children, helping them through their “roller coaster” rides after that bubble has been popped.
We have always felt lucky to have not “fallen through the cracks” and to have had an amazing team around Marc and our family. However, this is not always the case and families can fall through the cracks or not know where to look for help or support, who to ask or where to go or how to advocate. Early Intervention supports are now not only provided through the children’s hospital under Health (medical and some allied-health), but therapy-based Early Intervention is also funded under the National Disability Insurance Scheme (NDIS). The NDIS is system that can feel like this big scary beast of a thing, that speaks another language and can often feel like an uphill battle. We very rarely hear the positives of the NDIS and often hear what many refer to as “horror stories” of families battles to access the supports they need for their child to have every possible chance to reach for their potential however those supports may look.
Families are facing this often feared “battle” for funding from within the early days of diagnosis… not only are they learning their child’s new journey before them, after the bubble of what could have been has been has popped, but they are having to learn how to advocate and evidence the need for early intervention supports under the NDIS… something we only faced as a seasoned “battler” of sorts after being on Marc’s journey for five years. Children who have a rare disease require ongoing early and proactive intervention, not just from diagnosis, but throughout their journey as a coordinated, collaborative, and holistic “joined-up” team approach to care and support.
Our wish for the Marc Early Intervention Program at The Nathan Centre is for families to: