Hello, my name is Alishia. I am a mum of two beautiful daughters. My youngest daughter is Ellie-Rose. Ellie is 2 years old, nearly 3.
On Ellie’s first birthday Ellie had a Focal seizure. After this Ellie continued to have absent and focal seizures randomly. She has had a CT scan and 2 EEGs and thankfully her brain is not being damaged by these. Ellie also has worn glasses since she was 18 months old due to a squint in her left eye.
Ellie has global development delay and uses makaton to help her communicate.
In March 2023 we received the genetic blood test results we took in October 2022.
They found that Ellie-Rose has Chromosome 2P Deletion and Chromosome 3P deletion.
Both deletions have caused the massive delay in Ellie’s milestones .
The deletion in 2P has also caused seizures , different facial structure, potential of behaviour difficulties and the squint.
Ellie also has ataxia which causes her difficulty maintaining balance on her feet. She falls over a lot. So on the 22nd June (Rare Chromosome and Genetic Disorders Day) myself, Ellie-Rose and her Nanny will be doing a 30 minute walk to raise money for UNIQUE. Ellie-Rose gets tired easily so her pram will be joining us incase she struggles.
UNIQUE help families like ours by supporting us through the diagnosis and can find other family’s in their records who have a person with the same disorder. So we can contact those families to get more understanding as these disorders are so very rare.
Please donate anything you can. Wether this is your first time hearing about Ellie-Rose or if you’ve met her only once. Every pound goes a long way for this wonderful charity.
I will be updating Ellie’s progress on her Facebook page @OurUniqueEllie please follow us for more updates.
Ellie-Rose’s Mummy x