男童患罕见病 母亲心碎陪医
When Jakob was born with a single crease (折痕) on both of his palms, the doctor warned his mother this could indicate a health condition. Lucy remembered she was told to “just bear in mind that could mean something” following her son’s birth nine years ago. She said it still came as a shock, however, when Jakob was diagnosed last year with MPS VII — a condition that on average one baby every 10 years is born with in the UK.
“We knew something was different with Jakob when he was born and as the years progressed on, it became more apparent,” Lucy explained. “MPS VII is a progressive and life-limiting condition. It mostly affects him with his mobility due to a lot of pain and stiffness (僵硬), but he also suffers from development delay and cognitive impairment (认知障碍). It’s only mild, but he is delayed by a few years.”
Jakob receives treatment every week to manage the condition. Lucy said she was extremely proud of her son. “He smiles through every single appointment and talks often,” she said. The family is looking towards the future and managing Jakob’s condition “one step at a time”. “We have a lot of hospital visits and the future is kind of unknown as the condition is so rare. We have to follow the doctors as they are just fantastic,” Lucy said.
The 36-year-old mother is now sharing the reality of parenting a child living with this life-limiting condition, raising awareness and helping others going through a similar experience. “I know that when we became aware of Jakob’s condition there was no-one out there in a similar situation that we could turn to. If another child can get diagnosed earlier and start treatment a lot earlier, that would be fantastic.”
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