Jessica O’Garey
Northern Territory

While most toddlers grow in leaps and bound, doctors had no idea why Jessica O’Garey didn’t. At two years old, her legs were significantly underdeveloped, but the cause remained elusive.

A visit to the RCH provided the answer. After obtaining a referral, Jessica and mum Melissa met with neurologist Associate Professor Andrew Kornberg. A panel of tests including a muscle biopsy, diagnosed Jessica with a rare genetic disorder called nemaline myopathy.

A form of severe muscle weakness, nemaline myopathy primarily affects the skeletal muscles which are essential to movement. Patients like Jessica also have little muscle mass, as their muscle cells contain defective proteins called nemaline bodies. As protein is essential to muscle growth, these nemaline bodies inhibit muscle function and development.

“I have little muscle bulk so it can be difficult for me to find the strength to get up from sitting on the floor. I also have foot drop, so the tendons in my foot aren’t strong enough to lift my feet and I have to walk by lifting my knees. But and I I’m lucky to have a fairly mild strain of nemaline myopathy and don’t need a wheelchair or walking aids, though that might be partly because I’m stubborn!,” said Jessica.

In 2013, Jessica developed scoliosis, a secondary condition common within nemaline myopathy patients. As her skeletal muscles lack the strength to hold her spine in place, she developed an 80 degree curve in her spine that was corrected via surgery in 2016.

Jessica’s muscle weakness also manifests itself as sleep apnea, where the muscles of the upper airway collapse and block the airway during sleep. By the end of the day, her muscles are so tired that “sometimes my body just forgets to breathe.” She uses a Variable Positive Airway Pressure ventilator each night to keep her airways open.

Though there’s no cure for nemaline myopathy, Andrew has been helping Jessica manage her condition for over 15 years.

“Andrew is almost like a part of our family because I’ve known him since I was so young. Some people think hospital is scary, but I love it because I get to see Andrew. Also, without Andrew’s care, I wouldn’t be finishing year 12 like every other kid. I wouldn’t have the life I have now without Andrew and the RCH.”