Tiffany (Bailey’s mum): Soon after Bailey’s birth it became clear something was seriously wrong. He had dislocated shoulders and was floppy and a blood test showed his CPK was off the chart, indicating dangerous muscle wasting.  He was too weak to swallow properly.  We were advised to have him christened if we wished, and to take him home.  Each morning we were not sure if he would live through the day.

We were numb with disbelief.  You wonder if you should try and avoid bonding with this baby who is dying in your arms, but of course you do.

A muscle biopsy was sent to France for diagnosis.  When the results came back the neurologist said, “We have a diagnosis but we’ve never heard of it before.” When your neurologist says that you know you are in trouble!

Bailey has Merosin Deficient Muscular Dystrophy.  That means he can’t move anything himself. He can’t hold his head up and he has never been able to walk, sit or crawl.

We lost a lot of friends who couldn’t deal with the seriousness of the situation. We soon realized we just had to get on and make the most of every day.

At 17 years old Bailey can only move his fingers, his eyes and his mouth to speak. He’s been on a ventilator since he was two.

It hasn’t stopped him from being a great kid, a high academic achiever  (finishing year 12 early) and being a sports fanatic. He loves watching most sports and following his favorite teams and players. 

Bailey is very bright, but he also has an amazing personality. He cares more about those around him that about himself.  He often has to endure painful medical procedures but he always thanks the doctor when it’s over. When he was recently resuscitated in ICU he apologized to all the staff because he was more concerned for them. He’s always been like that.

We eventually stopped trying to explain Bailey’s condition to work colleagues and new friends. It’s just so hard for people to understand until they have walked in your shoes. We ended up making a book so when people ask about Bailey we give them the book and say, “this is Bailey’s life”.

With such a rare diagnosis we didn’t know anyone else with the condition, but through the Internet we eventually found another family in the United States with a child very much like Bailey. The first time I called the mum we talked for four hours. It was such a relief to talk to someone who understood and was going through the same things as we were.

We never would have got through this without our amazing medical team of Dr Pincus, Dr Harris (Brisbane), Gold Coast University Hospital and the Palliative Care Team. In home respite has also been essential, as have regular Friday night drinks and debrief with my lovely husband Malcolm.  We’ve been a great team throughout this.

We are so proud of Bailey, and blessed to have him each and every day. He has a great attitude to life and a very dry sense of humour. He likes to argue with me more these days, but I guess that's just being a teenager.  

We didn't think he’d live for one week, and we still have him 17 years later.

The best thing parents can do if they have a child with a serious rare disease is treat their child as normally as possible. Sometimes the worries and disability can seem the most important thing, but the most important thing is the child, not the disability, and the child would prefer to be treated as much like any other child as possible.

Sometimes it is hard explaining a complicated rare disease. My friends and schoolmates are used to me, so they don’t really ask questions because they know me so well. Other people find it hard to understand my condition and what I can and can’t do. They sometimes ask "Why can you do this, but you can't do that," and it takes a while to explain every time.

Doctors and nurses ask a lot of questions too, because they like to learn about rare diseases.  

When I was younger my mum found another boy in America with my condition and I got to meet him. He became a good friend. We got along really well and it was good to meet someone who was like me and he was really funny and a nice person too.

Social media has made a big difference for people with rare diseases. There is now a facebook group for Merosin Deficiency. Most of the children with this condition are younger, so parents from anywhere in the world ask questions to help their child.