A family from West Yorkshire, who say genetic research was “the best gift” for their son Owen, are supporting a future specialist children’s hospital, Cambridge Children’s Hospital, the first to bring genomic research, physical health, and mental health together.
Owen was entered into the 100,000 Genomes Project, a joint project between NHS England and Genomics England, investigating around 85,000 NHS patients with rare diseases or with cancer. The test, which sequenced Owen’s entire genome, discovered he had a mutation in the Thryoid Hormone Receptor Alpha (THRA) gene, which was stopping Owen’s body from responding properly to a type of thyroid hormone.
His family were referred to see Professor Krishna Chatterjee, consultant endocrinologist at Cambridge University Hospitals, who has a special interest in very rare thyroid conditions. Owen was prescribed some simple thyroid medication, high doses of ‘thyroxine’ which he now takes twice a day. It is significantly improving his development and treating his condition.
Owen is an example of a child who could have benefitted from the care given at our future Cambridge Children’s Hospital.
16 окт 2023
