An Ilkley baby who has a rare genetic disorder is to undergo a bone marrow transplant on Tuesday in a bid to save her life.
Seven-month-old Thea Paterson was diagnosed with MPS1 Hurler syndrome on January 10 this year. It is a very rare genetic disorder which only occurs in around ten in a million children.
Without treatment, the condition would eventually halt her development and growth. At around the age of three she would start to regress and lose her ability to do the normal things children do, including being able to walk and talk. Her life expectancy would reduce to just nine to ten years.
But since being diagnosed Thea, who lives with parents Samantha and Richard Paterson and two-year-old sister Ava in Ilkley, has been in the hands of medical experts at Manchester Royal Children’s Hospital.
She has been undergoing vital Enzyme Replacement Therapy (ERT) and on Saturday was admitted to the Manchester hospital to begin chemotherapy in preparation for the bone marrow transplant on Tuesday.
The bone marrow transplant will be from donated umbilical cord blood and Thea will be kept in isolation. Only four people, her parents and aunt Katy Hemsley-Roome and grandma Barbara Edwards, will be allowed direct contact.
If the process is successful it will enable Thea to start producing the missing enzyme herself and could give her a normal life expectancy.
Richard, who is the general manager of The Crescent Inn in Ilkley, said: “The consultants at Manchester Royal Children’s Hospital are the world’s leading specialists and we are very lucky to be in their hands. We have been truly amazed at how they and the NHS in general have responded and helped Thea since she was first referred.
“I really cannot commend them high enough for the work they do for what is still a relatively unknown disorder to most people.”
Thea looks like a perfectly normal, healthy baby, with the exception of an 18 degree curvature of her spine and a slightly enlarged forehead. Most of the symptoms of MPS1 start to present from her current age and it was a lump on her back that prompted her parents to take her to the GP.
The GP thought it could be a mild form of spina bifida and referred her to hospital. Rather than wait months for an appointment, the couple, decided to go private and saw paediatric medicine consultant Dr Phil Chetcuti at the Nuffield Hospital in Leeds. Dr Chetcuti knew of the condition and it was he who made the devastating diagnosis.
The family are in the process of setting up a trust to help with the current and ongoing costs of care for Thea and are also supporting the charity - The MPS Society. The Ilkley community is rallying round the family and Ilkley Brewery amongst other local businesses has already pledged to help fundraise.
If you would like to find out more about how you can help and support the family, visit theastrust.co.uk.