Why Awareness Matters: Billy’s Story

At Muscular Dystrophy Queensland, we support families across the state living with neuromuscular conditions. We’re sharing an article written by James, dad of Billy, about their experience with Duchenne muscular dystrophy and the strength behind their journey.

“I’m not really one to post a lot of content on my Linked-in profile, however I do like to sit back and read all the interesting posts / articles that crop up on my feed from the connections I’ve made in the 10 years of working in freight forwarding / customs brokerage.

Today just felt a little different. Behind businesses are hard working individuals. I know myself that when I’m at work I put 100% into what I do, I care and want to strive to be better. When it comes to finishing up for the day, like most people, I get home and I’m a present husband and father of two of the most amazing kids.

I obtained my Diploma of Customs Brokerage towards the end of September 2025, something I worked extremely hard on between balancing work and family life.

Life was on track and I literally felt like I was the luckiest man on earth. Unfortunately last Christmas, things decided to take a turn. We always had concerns about my son, Billy and his developmental delay. So we decided as a family to get together a team of therapists to assist him in catching up to the rest of the children of his age. My two year old daughter was hitting milestones that my 4 year old son couldn’t. We just thought something was really off.

My wife, Sarah and I took Billy to the GP one day and told him our concerns. He advised that we see a paediatrician (which would have been a 3-6 month wait). My wife and I just wanted to know the cause of this delay so we requested a blood test.

Later that same night at around 8pm, we received a phone call from our GP. He told us that Billy’s CK (Creatine Kinase) level was over 27,000 U/L which indicated major damage to his skeletal and heart muscle. We were told to go straight to the hospital first thing in the morning. I literally fell to my knees, I’ve never cried so much in my life (and I’m not a huge crier). At the time I just couldn’t believe what I was hearing.

After 8 weeks of waiting for genetic test results to come back, it was confirmed on the 6th February 2026 that my son Billy had Duchenne Muscular Dystrophy. Receiving this news absolutely devastated our family. It still does.

DMD is a rare, severe, progressive, genetic disorder that causes muscle degeneration and weakness, primarily affecting young boys. It is caused by a mutation in the DMD gene that prevents the production of the protein dystrophin.

When functional, dystrophin helps keep muscle cells intact. Without it, muscle cells are vulnerable to injury, resulting in progressive muscle degeneration and weakness. There are more than 30 different types of muscular dystrophy. These types vary by age of onset, severity and specific muscles affected. DMD is unfortunately the most common and severe of them all.

This disease is usually passed on genetically where the female carrier of two X chromosomes passes on a faulty X chromosome onto the male. There is a smaller percentage that DMD isn’t passed on genetically and there is no family history.

Sadly, Billy is one of this smaller percentage and is the first child in both our family lines to have this.

DMD affects all muscles

• Hips and thighs: Difficulty standing up, climbing stairs, walking and running
• Shoulders and arms: which typically begins to noticeably decline during early teenage years, making daily reaching, lifting and self-care tasks increasingly challenging.
• Calf muscles: muscle is replaced by fat and connective tissue, making them appear enlarged and firm.
• Neck and trunk: weakness leads to scoliosis (curvature of the spine).
• Breathing (respiratory) muscles: progressive weakening of the diaphragm and muscles used for breathing and coughing, usually leading to breathing difficulties.
• Cardiac muscle (heart): The absence of dystrophin leads to weakening of heart muscle, which causes scarring and fibrosis of the heart tissue.
• The digestive system through gastrointestinal issues, notably difficulty swallowing, delayed stomach emptying and chronic constipation
• The brain which can lead to neuropsychiatric, learning and behavioural challenges

The median life expectancy for someone with DMD is approximately 28-30 years old. In the 2000s, boys with DMD usually did not survive much beyond their teenage years. However, due to improved comprehensive multidisciplinary care. standardisation of corticosteroid treatments, disease-modifying treatments and advances in cardiac and respiratory support, people with DMD are surviving into their early 30’s and sometimes 40’s.

As a father, I always worry about what the future holds and what this “new” normal looks like for our family. I could ask a billion questions, but I know deep down I’ll find out more as I watch this disease progressively take my son away from me. I absolutely refuse to give up. I will do everything and anything in my power to keep my boy alive and allow him to live the best life he can.

I read a lot of stuff and it devastates me when I hear other families going through similar experiences, and some even worse. I honestly never thought our family would be going through something like this.

Please hold your loved ones tight and if you are fortunate to live life without any complications, please don’t forget about the ones that are struggling and hurting. It does not hurt to ask if we are OK.

People sometimes just don’t know what to say, but I encourage you to check in and give us the stage for when we feel comfortable enough to talk about things that bother us.

If you managed to sit down and read this article, thank you – my family truly appreciates it. Please show your support by:

• Spreading Awareness – Please simply like / follow the Muscular Dystrophy Queensland facebook page, and or Instagram page “musculardystrophyqld”
• Donating to the Explorate team participating in the Bridge to Brisbane on 13th September 2026. All donations will go directly to Muscular Dystrophy Queensland – link is as per below:

https://bridgetobrisbane26.grassrootz.com/muscular-dystrophy-queensland/explorate

Muscular Dystrophy Queensland supports families like ours through services such as seminars, counselling, equipment loans, social events, NDIS support and more.

Thank you again for reading.

The Milner Family.”