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| Gwynedd: Mum's heartbreak over daughter's 'family-destroying' disease | |
| (25 days later) | |
| Anna Lowri Roberts is one of 39 people in the UK with CLN3 Batten Disease | Anna Lowri Roberts is one of 39 people in the UK with CLN3 Batten Disease |
| The mother of a terminally ill 11-year-old has spoken of her heartbreak at knowing her daughter may not live past her teens. | The mother of a terminally ill 11-year-old has spoken of her heartbreak at knowing her daughter may not live past her teens. |
| Anna Lowri Roberts, from Sarn Mellteyrn, in Gwynedd, was diagnosed with CLN3 Batten Disease in May 2022. | |
| The illness is a fatal neurological disorder that usually begins in childhood. | The illness is a fatal neurological disorder that usually begins in childhood. |
| The strain Anna has affects just two people in Wales and 39 in the UK, according to the Batten Disease Family Association. | The strain Anna has affects just two people in Wales and 39 in the UK, according to the Batten Disease Family Association. |
| With a key symptom being childhood dementia Anna's life expectancy is expected to be limited to her late teens or early twenties. | With a key symptom being childhood dementia Anna's life expectancy is expected to be limited to her late teens or early twenties. |
| "Nobody understands how difficult it is - it's such a cruel condition and we know the worst is still to come," Anna's mum Laura Ann Roberts told BBC Cymru Fyw. | "Nobody understands how difficult it is - it's such a cruel condition and we know the worst is still to come," Anna's mum Laura Ann Roberts told BBC Cymru Fyw. |
| Describing the illness, Laura said it destroys families as they try and cope. | Describing the illness, Laura said it destroys families as they try and cope. |
| Anna was born healthy in January 2014. | Anna was born healthy in January 2014. |
| There was nothing to suggest anything was wrong until Covid struck in 2020, when her eyesight worsened and she began having seizures. | There was nothing to suggest anything was wrong until Covid struck in 2020, when her eyesight worsened and she began having seizures. |
| Coping with schoolwork then became difficult, and Anna went for tests at Liverpool's Alder Hey Hospital in 2022. | Coping with schoolwork then became difficult, and Anna went for tests at Liverpool's Alder Hey Hospital in 2022. |
| Laura said: "I had come across Batten Disease on the internet but didn't really think that Anna had such a terrible condition." | Laura said: "I had come across Batten Disease on the internet but didn't really think that Anna had such a terrible condition." |
| As the illness progresses patients suffer mental impairment, worsening seizures and loss of sight, speech and motor skills. | As the illness progresses patients suffer mental impairment, worsening seizures and loss of sight, speech and motor skills. |
| Laura said: "It's a very cruel disease. Seeing things change and knowing that things are getting worse. | Laura said: "It's a very cruel disease. Seeing things change and knowing that things are getting worse. |
| "It's now quite difficult understanding what she says. She has more trouble walking and her feet turn inwards." | "It's now quite difficult understanding what she says. She has more trouble walking and her feet turn inwards." |
| Anna's life expectancy is expected to be limited to her late teens or early twenties | Anna's life expectancy is expected to be limited to her late teens or early twenties |
| "We're just waiting for the next thing to happen. She's on a lot of medication for the epilepsy, she's been having bad hallucinations," she added. | "We're just waiting for the next thing to happen. She's on a lot of medication for the epilepsy, she's been having bad hallucinations," she added. |
| "She has also become quite depressed. She gets treated for that and has also medication to help her sleep. She doesn't sleep much." | "She has also become quite depressed. She gets treated for that and has also medication to help her sleep. She doesn't sleep much." |
| Leaving the house is difficult, Laura said, as Anna has "bad meltdowns and falls often". | Leaving the house is difficult, Laura said, as Anna has "bad meltdowns and falls often". |
| Because of her noise sensitivity she no longer goes to school. | Because of her noise sensitivity she no longer goes to school. |
| That means her three sisters have to help look after her. | That means her three sisters have to help look after her. |
| "I look at my other three daughters and wonder if Anna will reach their age," Laura said. | "I look at my other three daughters and wonder if Anna will reach their age," Laura said. |
| "But she won't be able to do anything they've done, go to university or learn to drive." | "But she won't be able to do anything they've done, go to university or learn to drive." |
| There was nothing to suggest anything was wrong until Covid struck in 2020 | There was nothing to suggest anything was wrong until Covid struck in 2020 |
| Coping with her daughter's condition is lonely, Laura said. | Coping with her daughter's condition is lonely, Laura said. |
| "I have no-one close I can talk to and understand what we're going through," she said. | "I have no-one close I can talk to and understand what we're going through," she said. |
| "Other parents live far away and I occasionally contact some mums on social media." | "Other parents live far away and I occasionally contact some mums on social media." |
| Batten Disease Family Association chief executive, Liz Brownnutt, said the organisation supported 117 children and young adults with Batten disease in the UK, four in Wales. | Batten Disease Family Association chief executive, Liz Brownnutt, said the organisation supported 117 children and young adults with Batten disease in the UK, four in Wales. |
| Laura is grateful for her family's help and the community's support. | Laura is grateful for her family's help and the community's support. |
| But it was, she said, "so upsetting". | But it was, she said, "so upsetting". |