“醫生無法確定我兒子的病情”

Jakob Loren, a nine-year-old boy from Dennington, near Framlingham, Suffolk, was diagnosed with a rare illness called Mucopolysaccharidosis type VII (MPS VII) last year. This condition affects his mobility and mental cognition. According to the NHS, on average, only one baby every 10 years is born with MPS VII in the UK. Lucy, Jakob's 36-year-old mother, has been keen on sharing their story to raise awareness and help others going through similar experiences. She recalls that they knew something was different with Jakob from birth, and as he grew, it became more apparent. MPS VII is an inherited condition caused by a lack of the enzyme, beta-glucuronidase. It can affect growth, bone and joint mobility, and mental cognition. Jakob undergoes enzyme replacement therapy and has four-hour infusions every two weeks in the hospital to manage the condition. Despite the challenges, Lucy is extremely proud of her son, who handles the condition extremely well and remains the happiest little boy.