When Jakob was born, he had only one palm crease (掌纹) on both of his hands. The doctor told his mother, Lucy, that this could mean he had a health problem. Nine years later, Jakob was diagnosed (诊断) with MPS VII, a very rare condition that influences one baby every ten years in the UK. Lucy remembered she was told to “just bear in mind that could mean something”, but when Jakob was diagnosed last year, she said it still came as a shock.
“We know something was different with Jakob when he was born, and as time goes by, it becomes clearer. MPS VII is a condition that influences Jakob’s ability to move because of pain. He also has some developmental delays and mild cognitive impairment (认知障碍), meaning he learns and understands things more slowly,” Lucy explained.
Jakob gets treatment every week to help manage his condition. Lucy is very proud of her son because he keeps smiling and talks a lot during every visit to the hospital. The family is focused on the future and managing Jakob’s condition step by step. They have many hospital visits, and because the condition is so rare, the future is uncertain. They follow the doctors and said they are just fantastic.
The 36-year-old mother wants to raise awareness and help other families who are going through the same thing. When Jakob was diagnosed, there was no one they could turn to for support. Lucy hopes that by sharing their story, other children can be diagnosed and start treatment earlier.
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