My beautiful son Marcus is now 6 years old. He has a rare FBXL4 mitochondrial DNA (mtDNA) 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 quickly. Due to mtDNA 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​ always​ has to be cool with air conditioning and not stressed, or he will have seizures. He has cerebral palsy and moderate hearing loss.​​​

But ​even with all of the challenges he faces​​. Marcus is just amazing. He’s cheeky and knows how to make me smile. He's such a loving, happy soul​​ and loves 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 movies such as Moana and Encanto.​​​

Marcus and Charmaine

Our reality is that there is no cure. So much more research is needed, and we think Marcus is the only person in Australia with his specific diagnosis. ​H​​e is on several medications and many over-the-counter vitamins to help with his energy, which gets extremely expensive.​​​

Marcus mito warrior

Marcus went to the hospital on 17 May 2021 — we had work happening on the house, and he inhaled the tile dust. He had a fever, and his vomit was green. He started having seizures, and he ended up with bronchitis and double pneumonia. From there, the seizures got worse, and he was going unconscious.​​​

From ​May to July, he was with 6 different types of machines and infusions. He was taking some medications intravenously and some via the intestines, the Midas infusion. He ended up on morphine because he was gagging,​ and there was more pain.​​​

His palliative care said that they thought it had gotten to the point where Marcus only had days​ left​ to live. I was so shocked. They asked what I wanted to do, whether I wanted to bring his birthday forward because it was the 4​ July, and his birthday was ​on 7​ July​​. ​I have other sons, and​​ we needed to make that​​ decision together. It was all so surreal. I was going to let my boys come up and say goodbye to Marcus. I needed to decide what treatment we would take across to Bear Cottage, the only​​ children's hospice in New South Wales.​​​

​​We were at Bear Cottage from July to September​ 2021​; we were the only family ​there at the time. Every day, he started to get a little bit better. He wasn’t seizing anymore, and his breathing was good. ​Things continued to improve, and he was able to come home. ​​​​

Nowadays he is full of beans, making a few more sounds, and hasn’t had many seizures. He hugs so well. We stand over his bed, and he ​reaches​​​ out, ​hugs​​​ you, and ​rubs your back​​​. It’s opened my eyes to what’s important and what isn’t. I want to spend as much time​ as possible​ with Marcus.​​​

As a single mother of 4 boys, I wish Marcus could enjoy special times with his brothers as any child would.

Marcus and brothers

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

March 2024

Marcus collage

Charmaine walked in The Bloody Long Virtual Walk 2021 for her beautiful Marcus, completing more than 70km over 10 days and the team Mito Marcus Marchers raised over $540.