Perth Children's Hospital
Ariella Italiano
Our daughter Ariella was born on 28th August 2014 and filled our lives with so much joy. We thought we were taking home a perfectly healthy baby girl until at around 5 weeks old we started noticing some abnormal eye movements, by 5 months old she was having seizures and spent much of her year of life in and out of hospitals across WA. After 2 years of testing it was finally discovered that Ariella has a rare gene mutation on a gene called TBC1D24.
This gene wasn’t discovered until 2010, so there is limited research on it and Ariella is currently the only case in Australia. People with this gene mutation all present with similar but different symptoms, Ariella’s main challenge is that she will frequently lose her muscle tone and become paralysed. This can happen when she is tired, upset, gets too hot or is overstimulated. Once she loses her muscle tone she is normally paralysed for the rest of the day and is unable to walk or eat, however once she sleeps she will regain tone for about 20 minutes when she wakes up, before losing it again.
There are a lot of challenges that we face when she loses muscle tone, specifically trying to move her, feed her, keep her hydrated, and make sure she sleeps as much as possible and is comfortable. When she loses muscle tone she sleeps frequently and spends most of the day lying down in bed. In addition to losing muscle tone, her other symptoms include:
- Seizures
- Hypotonia
- Tremors
- Ataxia
- Drooling
- Low Immune System
- Global Developmental Delay
Some days she appears to be a perfectly normal and healthy 3 year old, and then in that same day she can be severely disabled. Her condition is always changing and we just go with however she is that day. This means that as parents we regularly have to cancel plans or adapt our day to try and ensure she doesn’t overdo it and can rest when she needs to.
The below left picture show Ariella just last week after she helped me bake a cake, she was happy and full of energy, a few hours later (right pic) she lost all muscle tone and was paralysed on the couch for the rest of the day. She frequently cries when she loses tone and sometimes appears to be in pain, in this picture she is content watching her favourite show the wiggles.
Ariella’s condition is so rare that most doctors have never heard of it and there is no clear treatment plan. We are constantly trialling medications to try and help. After discussions with doctors across Australia, in America, Canada and Europe, we were recommended a children’s hospital in Italy that is willing to try and help.
