Having been in and out of hospital hundreds of times, Hannah Smith was used to feeling terrible. But this time, she knew things were serious.
She was 27 and could feel herself starting to struggle with the rare genetic condition that was poisoning her brain and body.
Then her hospital consultant confirmed the bad news.
Hannah choked back tears as he explained she needed an urgent liver transplant, otherwise she would die.
Hannah, who is now 30 and works ina school, says: My life was plagued by illness, but even so, I thought I was doing OK.
“Five years earlier Id asked whether a liver transplant would cure me but I was told I wasn't sick enough, so I had started to dare to think about what my future looked like, marriage and kids. Suddenly it felt as though that all might be taken away if a suitable donor couldn't be found’
Hannah, from Corby, Northants, was diagnosed with ornithine transcarbamylase deficiency OTC) in 1993, not long after she was born. Her mother had noticed she kept vomiting and was worryingly lethargic.
The disorder means the liver fails to make enzymes that remove ammonia, which builds up in dangerously high levels in the blood. Hannah was only the 40th person in Europe to receive the diagnosis.
Today, OTC is estimated to affect between one in 14,000 and one in 80,000 people.
“My parents were told Id need a lifetime of medication and monitoring, explains Hannah. Blood ammonia levels are usually less than 50 micromoles per litre.
“As a child, mine could be anything from 200 to thousands, and when it reached 1,000 Id find myself in hospital.
この記事は Sunday Express の February 12, 2023 版に掲載されています。
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この記事は Sunday Express の February 12, 2023 版に掲載されています。
7 日間の Magzter GOLD 無料トライアルを開始して、何千もの厳選されたプレミアム ストーリー、9,000 以上の雑誌や新聞にアクセスしてください。
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