Texas school girl, 7, 診断するd with 条件 that 原因（となる）s dementia

An elementary school student from Texas has been 診断するd with a rare 病気 that will lead to childhood dementia. Isla Edwards was just seven when she went for an 注目する，もくろむ 実験（する） because her 見通し was a 'little fuzzy at long distances'. 実験（する）s 明らかにする／漏らすd problems with the inside of her 注目する，もくろむ, however, 誘発するing her to be referred to hospital for more 実験（する）s.

It was then that she was 診断するd with Batten 病気 ― a rare genetic 条件 that 原因（となる）s the brain to 徐々に shut 負かす／撃墜する over five to ten years. The 病気 begins with subtle 調印するs such as 見通し loss, but 苦しんでいる人s will 結局 lose the ability to speak, move, see and swallow. Isla's mother Jacquelyn Stockdale said her daughter ― who was さもなければ healthy and loved sports ― has now lost 90 パーセント of her 見通し.

But her 悪化／低下 appears to have been 停止（させる）d by an $18,000-a-month 麻薬 called Miglustat ― which is 現在／一般に 存在 実験（する）d as a 治療 for people with the 病気. Ms Stockdale told Newsweek : 'At this time [of her diagnosis], there were no 調印するs of anything 存在 wrong with Isla. 'Her 見通し was a little fuzzy at long distances, but nothing out of the ordinary for a kid who was on the borderline of needing glasses.'

Isla was 診断するd with the 病気 in August 2021 after having a genetic 実験（する） at Texas Children's hospital, which was done by swabbing the inside of her mouth. Ms Stockdale 追加するd: 'I was [then] told that Isla would very soon lose her 見通し completel y, develop childhood dementia and epilepsy, that her mental cognition would start 拒絶する／低下するing, and that her physical abilities would also start to 悪化する. 'The life 見込み for a child with [Batten 病気] was late teens to 早期に twenties.' Batten 病気 影響する／感情s about one in every 33,000 children in the US.

苦しんでいる人s have a genetic 突然変異 that leaves 独房s unable to break 負かす／撃墜する and 再生利用する fats and lipids, which 徐々に 原因（となる）s 独房s to stop working as fats build up within them. 早期に 警告 調印するs 含む 見通し loss ― 誘発する／引き起こすd by fats building up in the retina, light 極度の慎重さを要する part of the 注目する，もくろむ, stopping its 独房s from working ― but in later 行う／開催する／段階s, symptoms 含む seizures, problems with movement and respiratory changes. There is 現在／一般に no cure for the 条件 and 患者s do not live beyond their teens. Ms Stockdale said when they received the diagnosis she was recommended a 臨床の 裁判，公判 for Miglustat ― sold under the brand 指名する Zavesca.

The 麻薬 作品 by inhibiting the 生産／産物 of lipids in the 団体／死体 and is already 認可するd for 扱う／治療するing Gaucher's 病気 ― another rare genetic 条件 where fatty 実体s also build up in 独房s. The Food and 麻薬 行政 (FDA) has 認可するd 裁判，公判s of this 治療 for Batten 病気 but, ーするために 避ける 存在 in the placebo part of the 熟考する／考慮する where 患者s receive a 模造の 麻薬, Ms Stockdale said the family is raising money to 支払う／賃金 the $18,000 for the 麻薬 every month. She said that once Isla started on the 医薬, her 悪化／低下 停止（させる）d. Isla's 見通し loss has stopped at 90 パーセント and there do not appear to be any other symptoms of the 病気 at 現在の, her mother said. She is learning Braille to help her reading but continues to enjoy sports such as swimming and dancing ― and to play ビデオ games.

'We still have a long 旅行 in 前線 of us, but, as of 権利 now, all her doctors are 床に打ち倒すd by her 進歩,' she said. 'We couldn't be prouder and more 希望に満ちた for her 未来.' '見通し impairment is the only symptom she 陳列する，発揮するs of this 病気, and we are fighting with everything we have to 確実にする it stays that way. 'We were told on diagnosis day that that day was the healthiest Isla would ever be, and that she was at her 頂点（に達する）; Two years later, and she has continued to 反抗する that.' She 追加するd: 'We 堅固に believe that Isla will be の中で the first children to change the history of this 病気. She has broken every 選び出す／独身 障壁 and 反抗するd every 期待 since day one, and we believe she will continue to do so until a cure for batten 病気 is 設立する.'?Read the 十分な story: https://www.dailymail.co.uk/health/article-12505599/daughter-rare-batten-病気-diagnosis.html?ito=msngallery

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