Rare disorder a lifelong battle

Gabriella Low likes music, taking selfies and The Big Bang Theory. She is also a one in 12,000 statistic.

Low, 30, was born with a rare neurological disorder called Rett Syndrome, seen almost exclusively in females.

The X chromosome mutation means she has problems with language, co-ordination and repetitive movements but tell her she’s beautiful and her mouth will grow into the biggest smile.

‘‘Gabriella is actually quite developed compared to others with Rett Syndrome,’’ said her mum and fulltime carer, Jan Low.

‘‘She can’t understand what people are saying but she can pick up on tones and emotions, she can walk and she’s able to use her computer.’’

There are about 40 to 60 people in New Zealand who have Rett Syndrome but very few can walk and even fewer live until the age of 18, Jan Low said.

‘‘My parents looked after her when she was 2 and Dad said ‘She’s got two legs – she should walk,’ so they persisted with that.

‘‘Every day, we got her to do steps and her muscles got stronger and finally she could walk halfway down to the paediatrics and then had to be carried the rest of the way.’’

In the Low family’s Mangatarata home, there are boxes and boxes of nappies in almost every room, as well as colourful items to stimulate Gabriella’s mind.

Day-to-day life involves feeding Gabriella, sometimes through her stomach tube, helping her to the bathroom and keeping a watchful eye on her.

The care doesn’t stop at night, either. Jan wakes at least seven times to wailing noises where she has to figure out what’s wrong with her daughter.

Signs of Gabriella’s condition became apparent to the Low family when she was 6 months old. She went from being a happy, healthy baby to experiencing fits of screaming, inconsolable crying and constant seizures.

‘‘She used to scream for hours and hours because she knew she was losing all the things she used to be able to do,’’ she said.

‘‘Beforehand, she could use her hands and then all of a sudden she couldn’t hold a bottle and couldn’t pick anything up.’’

She took Gabriella to many doctors who all shut her down, saying Jan was ‘‘over-reacting and being paranoid’’.

An Auckland specialist was the only one who knew there was something more to Gabriella’s condition. She had met another girl with the same symptoms and described it as ‘‘a death sentence’’.

‘‘Every mum I saw I would ask: ‘Does your child do this? Does your child do this?’ Because I thought I was imagining it,’’ Jan Low said.

Gabriella wasn’t diagnosed until she was 6 years old.

‘‘I really had to fight through the system to be heard. There’s no knowing why [Rett Syndrome] happens. There’s no funding in New Zealand for these syndromes, and all the research happens in the [United] States.’’

Despite the constant uphill battle, Gabriella makes her needs and wants heard. Using a tablet that tracks eye movements, she can watch programmes, play games, listen to music, and most importantly tell people if she wants to go to the bathroom, eat or if something is wrong.

While Jan is determined for Gabriella not to go into care, she does often think about the woman Gabriella could have become.

Some day she will be bedridden and will lose the limited ability she has, Jan said.

‘‘I think about who she could have been and what she could have done with her life. She loves classical music, so she could have become a violinist. She’s so beautiful and it’s so heartbreaking to see someone so trapped.’’