On May 12 Nellie Oakshott, two, was diagnosed with infantile metachromatic leukodystrophy (MLD) and given a life expectancy of five.
The National Organization for Rare Disorders said, “Symptoms vary by type but can include difficulty talking, seizures, difficulty walking, personality changes and behavior changes.”
The organization said the last stage of the disease often includes blindness, an inability to move, unresponsiveness and being unable to speak.
Family friend Vicki Rawlings added, “There is no cure, Nellie and her parents have been put in touch with palliative care.
“Every day that passes Nellie will deteriorate. Time is precious. Every minute counts.”
Nellie’s parents Megan Gillett and Tom Oakshott, who live in Upperton Road, said their hearts broke when they heard the diagnosis.
They said, “It is all the more heartbreaking as there is treatment for MLD if caught early enough, devastatingly for Nellie this isn’t an option as her symptoms have progressed too far.
“We are very new to the MLD community but we would like to show our support to charities like ArchAngel who are trying to add MLD and other genetic diseases to the newborn blood spot test so that other families don’t have to live through the agony we are.
“We intend to live every one of Nellie’s last days to the fullest, creating memories and giving her absolute joy.
“Nellie loves life and we will honor that whilst she is with us and when she isn’t.”
Family friend Mrs Rawlings, who set up a fundraising page for the family, said she hopes people can help by donating.
She said, “What I beg now is please, please find it in your heart to come together and give them something to enjoy their time with Nellie. Time where Nellie can enjoy and find joy in days out and time spent in their family cottage get -away with grandparents.
“This may be the last summer Nellie can understand and love seeing the farm animals, watching the fish, meeting her favorite characters like Peppa Pig, trips away with her family and weekends embraced in a secret cottage with her grandparents.”