A MUM has revealed her heartache after her son and daughter were both diagnosed with a rare genetic disease that has robbed them of their mobility, speech and memories.
Thomas Coates, 32, and his sister Sarah, 29, are the first people to be diagnosed in the UK with Kufs – a rare condition that manifests itself in epilepsy, dementia, dysphasia and a lack of mobility.
The pair, who were both once “normal and healthy children” youngsters, are now bedbound and are tube fed.
Mum Katherine Coates told Devon Live: “Tom and Sarah both had jobs, then when Tom was 19 he started to suffer from falls.
“A brain scan detected fatty deposits – Leukodystrophy – but they didn’t know the cause. All they could tell us was it was a degenerative brain disease and that he would never get better, and they didn’t know how it would manifest.”
She spoke of her shocked at the diagnosis, adding: “When you have children you have hopes and dreams for them and then you are told you will outlive them because they are only going to get worse.”
Thomas and Sarah are two of the only 32 known cases in the world to suffer from the condition.
Katherine, of Shobrooke, Crediton, said it took a worldwide search for her children to be diagnosed with the disease.
Thomas was diagnosed with Kufs nine years ago, while Sarah was struck down soon after.
KUFS syndrome: What is it, and what are the symptoms?
KUFS, otherwise known as neuronal ceroid lipofuscinosis (ANCL), is a genetic disorder.
The rare condition is caused by changes in particular genes that are critical in helping the body to function.
With these mutated genes, a person’s organ systems, including the brain, can be affected.
Patients can therefore suffer from epilepsy, dementia, dysphasia and limited mobility.
There are only 32 known cases of Kufs in the world.
Their mum said it had been devastating to watch her daughter, now 29, go from being the “life and soul” of the party to becoming bedbound.
She said: “Many people comment that we always have a smile on our face. We always try to be positive and bad times will come, but that time isn’t now and we we try to make the most of even the smallest things.”
The family is now working to raise money to build an extension on their house to allow Sarah to have her own room.
She is currently living in a hospital bed in the dining room of their home.
The family are hoping to raise £38,000 – having already managed to gather £62,000 through a disability grant, their pensions and crowdfunding.
Due to the rarity of the condition, the life expectancy of Thomas and Sarah is not known.
To donate, go to the family’s JustGiving page here.