My beautiful son Marcus is just 3 years old and has a rare FBXL4 Mitochondrial DNA depletion syndrome. It’s the rarest in the world. He has Hypotonia (low muscle tone, commonly known as floppy baby syndrome) and is unable to sit up alone, crawl or walk.
He tires very easily. Due to the mitochondrial DNA depletion, his cells don’t produce enough energy to run his organs and brain properly. He is machine fed via a gastrostomy button and unable to drink orally as it could go into his lungs. He has Tracheomalacia (floppy airways), Laryngomalacia (floppy voice box), and several types of seizures.
Due to his epilepsy he has to be kept cool at all times with air conditioning and not stressed or he will seizure. He has cerebral palsy and moderate hearing loss.
But with all of his challenges, Marcus is just amazing. He is cheeky and knows how to make me smile. He's such a loving, happy soul and has a love for trees - just seeing trees makes him smile from ear to ear! He can brighten up any room and everyone who meets him adores him. He loves his family, people and Moana.
Our reality is, there is no cure. So much more research is needed and he is the only person in Australia with his specific diagnosis. Marcus is on several medications and also on many over-the-counter vitamins to help with his energy, which gets extremely expensive.
As a single mother of four boys, my wish is for Marcus to enjoy some special times with his brothers, like any child would. He loves his family and gets joy from the simple things like holding hands and getting foot rubs. Marcus’s prognosis is unknown, so every day is a blessing and we will fight with everything we have.
- Charmaine Nowland, Marcus' mum