A mother has launched a fundraiser after her six-year-old daughter, who has a rare brain condition and suffers up to 500 seizures a day, and her husband needed emergency open heart surgery. Alexandra Bufton, 37, from Locks Heath, Hampshire, is caring for her daughter Doris, who has lissencephaly, also known as smooth brain, and receives palliative care centred on her quality of life.
Doris was born in September 2019 after Alexandra's waters ruptured at 29 weeks and labour was delayed until 34 weeks, weighing 3lb 9oz. In April 2020, Doris was admitted to hospital with a swollen head and fever, where medics diagnosed her with a rare genetic microdeletion and lissencephaly. Alexandra and her husband Kris, 40, a self-employed builder, were told Doris is unlikely to live beyond 10 and would never sit, walk or speak, with mental abilities equivalent to a one-year-old.
Now aged six, Doris's condition has worsened. She has been diagnosed with refractory epilepsy and experiences hundreds of seizures each day, leaving her asleep for around 23 hours a day. Alexandra said: "She's continuously seizing at the moment, she can't even smile. I'm just pretending everything is OK even when it isn't." The family also has to manage the impact of Kris's heart condition, which required emergency open heart surgery.
Alexandra, who has two other children, Amelia, 14, and Poppy, nine, has become Doris's full-time carer. The family said they are taking each day as it comes and have set up a GoFundMe page to help keep them afloat. Alexandra added: "Kris and I have always said that everything is about a quality of life – we would never keep her alive for our sake. It's always about her, and as long as she's not in pain and she's still getting enjoyment out of things, and she's comfortable and happy, then we will do that for as long as we can, so we're hopeful."
