Baby Thea Paterson looks like a happy, healthy seven-month-old.
But without treatment, she faces a terrible future because of a rare genetic disorder.
The tot has MPS 1 Hurler syndrome which would halt her development, cause her to regress and cut her life expectancy to just 10 years old.
Her dad Richard, from Ilkley, said: “It is still a very risky option, however the alternative for us isn’t worth thinking about. Thea deserves every chance there is to lead as normal and as long a life as possible.”
She was born healthy last July, but after her family noticed a lump on her back, was referred to a specialist.
Thea was lucky to be seen by paediatric medicine consultant Dr Phil Chetcuti, her dad and mum Samantha said, as he knew of the condition.
“Getting her diagnosis was the worst day of my life,” her dad, 31, said. “You feel like your whole world just falls apart.”
Thea was immediately referred to Manchester Royal Children’s Hospital, and has been undergoing NHS-funded Enzyme Replacement Therapy.
This weekend she is due to be admitted for chemotherapy and then a bone marrow transplant. The hope is that the transplant will enable Thea to start producing the missing enzyme herself.
“If it does well, it could extend her to a relatively normal life expectancy, but they don’t know because it’s different for every child,” Richard said.
Thea’s family are setting up a trust for her and supporting charity the MPS Society. Contact firstname.lastname@example.org.