Chelsy

When Chelsy was just 17-months-old, her mum, Nicole, had some concerns regarding Chelsy’s development – particularly with the way her ribs were forming. Chelsy’s paediatrician diagnosed pectus carinatum (a malformation of the chest characterised by a protrusion of the sternum and ribs), and then two months later, she was diagnosed with the very rare genetic condition, known collectively as mucopolysaccharidoses (MPS), specifically the MPS IVA (Morquio A) strain. Morquoi A is a progressive skeletal condition affecting only one in 200,000 children worldwide.

“Receiving that diagnosis was pretty shattering. I was pregnant with Chelsy’s twin sisters at the time, and as it is a genetic condition, I was worried they would also have it,” Nicole said.

“There weren’t a lot of treatment options at the time Chelsy was diagnosed, but our doctor gave us a lot of useful information, which we were grateful for. He did a lot of research and presented us with the facts. We still see that doctor to this day.”

When she was four, Chelsy had an anterior cervical discectomy and fusion – a neck surgery that involves removing a damaged disc, therefore reliving spinal cord pressure to alleviate any pain associated with that compression. Plates were also inserted into her knees to help align her legs when she was five. One year later, Chelsy began ground-breaking enzyme treatment therapy – as MPS often occurs due to a missing enzyme – which supports her bones and organs, and continues to receive this today.

Chelsy, now 10, visits the hospital for six hours every week to receive her enzyme treatment but for the rest of the week, she lives life to the fullest – much like any other girl her age. She aspires to be a performer, and loves to sing (she’s in the school choir) and act for an audience.

“Our main challenges are mobility. Chelsy has to travel in a wheelchair for any long distance, but we try our best to make her life just the same as anyone else’s,” Nicole said.

So, what would Chelsy tell other kids about MPS?  “I’d tell them that there’s no such thing as normal!”