Abby is a beautiful three year old whose eyes, smile and giggles light up a room and make you feel good whenever you are near her, however she cannot voice her thoughts, dreams and needs as she has Rett Syndrome.
Rett Syndrome is a relatively rare but serious neurological disorder occuring primarily in females. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome.
In most cases the female baby will appear to develop normally however sometime during the 6-18 month mark the normal pattern of childhood development does not progress and they lose the abilities and skills they once had.
In 2012, there are about 400 girls throughout Australia who have been diagnosed with this condition.
There is no cure from Rett syndrome. Treatment for the disorder is symptomatic – focusing on the management of symptoms and support, requiring a multidisciplanary approach.
As with any disability, the impact of the condition is not only upon the child but upon family and carers too.