Carol is the 最新の in 世代s of her family to die from Alzheimer's. Now her grieving children 直面する an awful 窮地...

In the 1980s, Nottingham schoolteacher Carol Jennings penned a short letter which changed the way the world understood Alzheimer's dementia.

'I think my family could be of use,' it began.

Many years and billions of 続けざまに猛撃するs in 研究 基金ing later, it would lead to the first 効果的な 麻薬s for the degenerative brain 病気 which have recently 現れるd. Carol's letter, to 最高の,を越す neurologist Professor John Hardy, 詳細(に述べる)d how her family had been blighted by dementia.

Her 63-year-old father Walter had it, she wrote, 'as does his sister, Audrey. His brother, Arthur, also may have the 病気.'

Carol Jennings,?who died late last month aged 70, with children Emily and John and their father, Stuart

?Carol J ennings,?who died late last month 老年の 70, with children Emily and John and their father, Stuart

Carol, pictured with?Emily, John and Stuart, wrote a short letter in the 1980s which changed the way the world understood Alzheimer's

Carol, pictured with?Emily, John and Stuart, wrote a short letter in the 1980s which changed the way the world understood Alzheimer's

At the time, 比較して little was known about Alzheimer's aside from that it was seen as an inevitability of old age for some. 'My doctor keeps telling me it doesn't run in the family but... it 明確に does,' Carol's letter continued.

Prof Hardy says Carol's letter was a watershed moment. 'We'd been trying to find genetic 突然変異s that might lead to Alzheimer's for some time,' he 解任するs. 'So we put out an advert in the Alzheimer's Society newsletter looking for families with a strong history of the 病気. Carol's letter was the first 返答 I read.'

The 研究員s took 血 見本s from the Jennings family and, several years later, 結論するd that many of them carried the same genetic defect ? which 誘発する/引き起こすd a rare hereditary form of Alzheimer's.

These remarkable events will feature in a BBC Two 文書の which followed Carol, who died late last month 老年の 70, and her の近くに 親族s for two-and-a-half years. The Jennings Family vs Alzheimer's, which 空気/公表するs on May 13, also 明らかにする/漏らすs that Carol's two children, John and Emily, are still grappling with the 決定/判定勝ち(する) to take a 血 実験(する) to find out whether they carry the genetic defect.

They have a 50/50 chance of having the デオキシリボ核酸 fault, as they may have 相続するd a healthy copy of the 遺伝子 from their father who isn't 影響する/感情d. The siblings John, 38, and Emily, 42, 恐れる, やめる understandably, that finding out their 危険 would change their lives forever.

In Emily's 事例/患者, it would also mean telling her young daughter Eleanor that she could develop Alzheimer's at a young age. The siblings have put off the 決定/判定勝ち(する) because, until now, there was nothing that could be done to stop the degenerative brain 病気.

But, with the UK 是認 of two Alzheimer's 治療s 推定する/予想するd any week now, that could soon change. John, a teacher who lives in Edinburgh with his husband Matt, 述べるs the 窮地 as 'the most difficult 決定/判定勝ち(する) in my life'.

'The 願望(する) to have the 実験(する) has always 肉親,親類d of ebbed and flowed,' he says. 'I don't have any 計画(する)s for getting old because I don't imagine that I will. At the moment, I 肉親,親類d of overthink everything that could be a symptom of my brain changing.

'You can't help but think maybe it's already happening for me. My biggest 恐れる is losing my 関係s to people around me. I think that's the thing that I'm 脅すd of, 存在 alone in a scary place.'

Emily says she is 'pretty much in 否定' about her Alzheimer's 危険.

'As I've got older, and I've had Eleanor, there's even more to think about, because it has a knock-on 衝撃 on her,' she says. 'If I'm getting it, she has a 50/50 chance of getting it. I don't want her thinking about it I suppose.'

But she says: 'I feel like I don't worry about anything else apart from that. I never go past the next year or two in my mind.'

Emily 追加するs that her husband 示す has 繰り返して 勧めるd her to get the 実験(する), telling her 'you're living your life like you're going to get [Alzheimer's] anyway'.

専門家s say the 窮地 John and Emily 直面する is 代表者/国会議員 of the 速く changing nature of Alzheimer's care. The Jennings family genetic defect means their 免疫の systems are unable to (疑いを)晴らす a 有毒な protein from the brain ? called amyloid plaque.

研究員s 結論するd that, over time, this plaque builds up in the brain, 誘発する/引き起こすing Alzheimer's.

The genetic defect carried by Carol and her family is exceedingly rare. より小数の than 100 people in the UK today are known to have Carol's 突然変異, one of three genetic 原因(となる)s of Alzheimer's. However, the 熟考する/考慮する they 参加するd in was 革命の because it was the first to pinpoint a 原因(となる) of Alzheimer's ? amyloid plaque.

研究員s noticed during 地位,任命する-mortums that the brains of all 死んだ Alzheimer's 患者s were covered in these 絡まるd proteins ? 関わりなく whether they carried this rare genetic defect.

Stuart cradles Carol in a moving scene from the BBC Two documentary which followed the family for two-and-a-half years

Stuart cradles Carol in a moving scene from the BBC Two 文書の which followed the family for two-and-a-half years

The Jennings family at Carol's bedside as they cared for her amid her battle with dementia

The Jennings family at Carol's 病人の枕元 as they cared for her まっただ中に her 戦う/戦い with dementia

Carol, her vicar husband Stuart and baby John.?The genetic defect carried by the family is exceedingly rare

Carol, her vicar husband Stuart and baby John.?The genetic defect carried by the family is exceedingly rare

Carol would have wanted her children to be tested, believes her widower Stuart, 66

Carol would have 手配中の,お尋ね者 her children to be 実験(する)d, believes her widower Stuart, 66

Four 10年間s and thousands of 熟考する/考慮するs later most 専門家s now believe Alzheimer's 事例/患者s are 原因(となる)d by a 増強 of amyloid.

And, in 20 22, it was 発表するd that two 麻薬s that 除去するd amyloid from the brain were 有能な of slowing the 進歩 of Alzheimer's by as much as a third ? 開始 up the 可能性 of a cure.

Both 薬/医学s, lecanemab and donanemab, are given 経由で an infusion every two weeks. They are designed to 捜し出す out and destroy amyloid plaque in the brain.

When the results from the lecanemab 熟考する/考慮する were published at the end of 2022, some doctors あられ/賞賛するd it as 'the beginning of the end' for Alzheimer's. However, the 治療s are not without 論争. Both 麻薬s have a high 率 of 味方する 影響s. About one in ten 裁判,公判 関係者s experienced swelling in the brain and one in six had brain bleeds.

Three 患者s on the lecanemab 裁判,公判 died as a result of 嫌疑者,容疑者/疑うd 味方する 影響s. There were four 味方する 影響-関係のある deaths on the donanemab 裁判,公判. The 薬/医学s are also 高くつく/犠牲の大きい. An NHS 報告(する)/憶測 published in February 示唆するd that rolling out lecanemab and donanemab would cost the Health Service up to £1billion a year.

Moreover, both 治療s are most 効果的な when given to 患者s in the earliest 行う/開催する/段階s of Alzheimer's.?Lumbar 穴をあける and amyloid PET ざっと目を通すs can show changes 早期に in all forms of Alzheimer's 病気 and 研究員s want more people to come 今後 to 捜し出す diagnosis if worried. However, 専門家s say the fact the 麻薬s can slow Alzheimer's at all means there is hope that, in the coming years, even more 効果的な ? and 安全な ? amyloid-attacking 薬/医学s will be developed. Earlier this year, UK scientists also 発表するd they had 首尾よく developed a 血 実験(する) which could 位置/汚点/見つけ出す Alzheimer's ? meaning 患者s could also 結局 be 診断するd much earlier, 限界ing the 損失 原因(となる)d by amyloid.

'We are in the 治療 段階 now for Alzheimer's 病気,' says Dr Cath Mummery, a dementia 専門家 at University College London. 'We have a 麻薬. It has a modest 影響. It's not the 魔法 弾丸 that's going to 完全に 逆転する the 病気. But it's the 創立/基礎 石/投石する that we can build on.'

専門家s say new ?Alzheimer's 治療s raise hopes for 患者s most at 危険 of the 病気.

While the genetic amyloid defect carried by many of the Jennings family is exceedingly rare, it is not the only 早期に 警告 調印する of the 病気. 研究 示唆するs around a 4半期/4分の1 of the 全住民 carry one copy of a 遺伝子 called APOE4 which (テニスなどの)ダブルス their chances of developing Alzheimer's.

Around 3 per cent of people have two copies of APOE4 which can 増加する the 危険 of the 病気 by as much as eight times. In 2022, Australian actor Chris Hemsworth, 星/主役にする of the Thor films, 明らかにする/漏らすd he had taken a 遺伝子 実験(する) that showed he had two copies of APOE4.

However, for these 患者s there has been very little that could be done to 保護する them against Alzheimer's once it arose.

Prof Hardy believes that amyloid plaque will 結局 be 扱う/治療するd like high cholesterol, which can be 取り組むd with a daily statin to stop heart attacks or 一打/打撃s ever occurring.

The researchers took blood samples from the Jennings family and, several years later, concluded that many of them carried the same genetic defect

The 研究員s took 血 見本s from the Jennings family and, several years later, 結論するd that many of them carried the same genetic defect?

Carol with Emily and baby John.?Emily, who is now 42 and lives near Leicester, says she is 'pretty much in denial' about her Alzheimer's risk

Carol with Emily and baby John.?Emily, who is now 42 and lives 近づく Leicester, says she is 'pretty much in 否定' about her Alzheimer's 危険

'You don't wait to have a heart attack to start taking a statin,' says Prof Hardy. 'I think the same will happen with amyloid 麻薬s. People who are at 危険 of the 病気 will start taking them 早期に before the symptoms occur.'

He 追加するd: 'If you'd asked five years ago whether I thought it was 価値(がある) 実験(する)ing for APOE4 I would have said it wasn't 価値(がある) it, because there was nothing you could do. But now with 治療s 利用できる, which will only get better, I think knowing your 危険 is much more 価値のある.'

John Jennings says the arrival of the two new Alz heimer's 麻薬s makes him feel more 楽観的な about the 未来 ? and could swing him に向かって getting the 実験(する). 'It 現実に feels like I've got more time,' he says. 'It's taken some of that 圧力 off. It's so 広大な/多数の/重要な to see it 現実に happening.'

He 追加するs that it makes him feel '楽観的な' his niece Eleanor's 世代 will have an even better chance, as amyloid 麻薬s continue to 改善する. However, his sister Emily says she is still ありそうもない to find out her 危険 of Alzheimer's because she frets about what 実験(する)ing 肯定的な would mean for Eleanor.

'I'd get upset more or I'd worry more about Eleanor,' she says. 'I'd want Eleanor to have the 実験(する) because I'd want to know whether I'd given it to her. I'm in 否定. I definitely don't want to think about it. I do worry if I have any sort of symptom, like cloudy brain. I think this could be the start of it.'

John and Emily's father, retired vicar Stuart, 66, said: 'It's too late for Carol I'm afraid, but hopefully not Emily and John. This is what Carol's been working for for over 30 years.'

付加 報告(する)/憶測ing by Ethan Ennals.