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.
This is a story about Anna, who despite her busy life is always smiling, always happy, who gives unreservedly and about her father Graham Loveday who plans to walk across England in September and raise awareness about Rett sydrome.
Although there is no cure yet there is some remarkable research being done in Australia, America, the UK and across the world but like all research, they need more funding.
Before I met Anna and her family I had never heard of Rett Syndrome or its effects.
Our quest is to raise awareness of this syndrome but more importantly raise some money so that more research can be done to find the key to maybe one day reversing this syndrome or stop it happening to other children.
Just because it doesn’t affect your child doesn’t mean you should not get involved. “Support today, hope for tomorrow” let’s give this great cause some media exposure, so they have a fghting chance of raising some funds to do more research.
Graham and Jane, Abby’s Poppy and Nanny are an enormous source of love and support as are Abby’s sister Sophie and brother Sam. Let’s show we care as well and donate to this worthwhile cause.
For more information and to make a donation please go here.