When Marc was born on January 8th 2012, he was a perfectly healthy newborn baby boy with blonde hair and big blue eyes.
At five and a half months old, after failing to thrive and noticeable developmental delays, Marc was diagnosed with a rare genetic brain malformation disorder called Lissencephaly (which means smooth brain).
Lissencephaly is a life limiting disorder. It is also a diagnosis that is forever changing and being added to. Lissencephaly, to date has caused Marc to have severe refractory (uncontrolled) Epilepsy, Microcephaly, Global Development Delay (GDD), Chronic Lung Disease, and Cortical Vision Impairment (CVI).
He also has feeding difficulties which result in him aspirating when fed orally. As a result of this, he was fed via a nasal-gastric tube from the age of 11 months to two and a bit years. In March 2014, he had surgery to insert a PEG/PEJ tube through a stoma (hole) that was surgically created in his abdomen. Since then Marc has been fed all his nutrition and fluid requirements through this PEG/PEJ. He must also have his multitude of various medications through it.
At this point in time, Marc requires a cocktail of 12 different medications and some supplements.
A PEG/PEJ is an external double port through a stoma into his stomach that has a tube that allows fluid and medications to be administered into his stomach –Gastric port- and has a secondary tube that runs down into his Jejunum – Jejunum port- where his specialised formula is slowly administered continuously, over a 12 hour period each night, via the use of a specialised feed pump.
Marc requires continual care and support from many Specialist Consultants and their medical teams, allied health care and most of all 1:1 care and support from his family.
At four years old, Marc is developmentally 3-6 months with some 12 month old comprehension.
Marc has developed some strength throughout his legs and is working on his neck and torso control as well as his arm and hand control and coordination. This gives hope that one day he may sit, crawl or walk.
He has said “Mum”, “Dada”, “No” and “Oh Yeah” which were miracle milestones for his family. However, it is uncertain as to whether he will ever fully develop the ability to speak.
His family, Speech Pathologist and school have been working on methods of non-verbal communication. This will assist Marc in telling them, his family, friends, specialists and the world what he would/would not like or how he feels.
Marc seems to be positively responding to the use of “Yes” and “No” Visual Cards- he is learning how to use these pictures along with a slight nod or shake of his head to communicate! This will hopefully lead to Marc being able to use a Simplified PODD book.
Marc attends weekly Physiotherapy, OT and Speech Therapy and Chiropractor appointments as well as an intensive early intervention therapy program called Conductive Education (CE) at his school as a part of the Kindy program. He also attends a specialised playgroup run by his therapy provider VisAbility (formerly Assoc. for the Blind).
Marc working hard at CE Class
Marc’s family have the constant fear that his seizures may result him regressing and the very real possibility that he could lose the few skills he has worked so hard to acquire.
Regardless of all of this, Marc’s parents strive and give everything they have to give him as much opportunity as possible to reach his potential- whatever that may be.
In the past four years, since his diagnosis, Marc has attended well over 300 appointments and sessions with medical professionals and therapists. He has had over 25 hospital admissions with multiple Ambulance admissions to PMH ED.
His longest hospital admission to date was six weeks in 2014, in which he spent time in the ICU with two emergency surgeries.
Even with all of this, Marc is a happy and loving child with an amazing personality who loves life and everyone in it. He is adored by all who know him and all who meet him fall in love with him and his big blue eyes and light blonde curls.
Marc and his Mum, Dad and baby brother (Anthony) live in Perth Western Australia.
Each day they travel the roller coaster ride that is Lissencephaly. There are ups and downs and many an obstacle at times; but together they hold on tight and face each day head on.
How you can help?
Fundraisers in Perth, Western Australia
Help Marc and his family reach their goal and join them for fun night out supporting a great cause.
All proceeds on the night will go to helping them reach their goal of purchasing a new vehicle that will modified to be wheelchair accessible for Marc.
There will be raffles, door prizes and goody bags on the night as well as entertainment books available for purchase.