Семья погибшей от синдрома Альперса девочки призывает ускорить разработку лечения

A family is remembering their daughter and calling for progress on research into a rare and fatal childhood illness. Liz and Lee Elmer from Basingstoke lost their daughter, Keira, in July 2016 when she was just five years old. She died from Alpers' syndrome, an inherited disorder that causes seizures, dementia, and liver failure. The condition is caused by a fault in the POLG gene, which disrupts mitochondrial function, which is essential for powering the body’s cells. Mrs Elmer said: "Some families get a diagnosis and then only have a few days, weeks or months with their child, but we were blessed as we had Keira for five years. "More research is needed so that children can be diagnosed and treated earlier. We need better treatments that can control the seizures." Symptoms usually appear between ages one and four. Keira’s first seizure occurred in 2014, and although she initially recovered, the episodes continued. She was misdiagnosed and treated for epilepsy until June 2015, when a stay in the paediatric intensive care unit led to the correct diagnosis. Mrs Elmer said: "Keira kept on having seizures even though she was on medication, and they led to her being visually impaired. "The doctors did lots of tests and said that her brain wasn’t able to compute what she was seeing. She was finally diagnosed with Alpers’ syndrome, a type of mitochondrial disease, and from then on, it was a whirlwind." Now, new research is underway that the family believes could change other children’s lives. The study, funded by Action Medical Research and based at Newcastle University, is investigating safer seizure medications and new compounds to slow the disease’s progression in the brain and liver. Professor Bobby McFarland of Newcastle University said: "While liver failure may develop before seizures start in some children, sodium valproate, a commonly used anti-seizure medication, can also trigger it." Researchers have identified a shortlist of existing and new drugs. They will use patient-derived skin cells to create 3D models of the liver and brain for rapid laboratory testing. Professor McFarland said: "We will firstly use the liver cells to check whether the treatments are safe—and then assess whether they can reduce seizure-like activity in the brain cells. "Our goal is to identify safe and effective treatments that can control the symptoms and help improve and extend the lives of children with Alpers’ syndrome." For Keira, her health began to decline following her diagnosis, and she lost the ability to walk and swallow at the age of three. In early 2016, they were told Keira did not have long to live, and she was moved to a hospice. Mrs Elmer said: "Lee and I stayed in the family room in the hospice and took turns in shifts to stay up with Keira at night. On the day she passed away, I was washing and dressing her and noticed that she had gone pale. "I asked the hospice staff to check her, and they listened for a heartbeat, but there wasn’t one. I knew in my heart that she had gone. "She passed away on 4 July at 12.30pm at the age of five." The family continues to support further research, hoping it will lead to earlier diagnosis and better treatments for other children. Read more - Appeal to help Basingstoke mum and her children make memories after cancer diagnosis - Tadley school celebrates 150 years with drones, daffodils, and community events Action Medical Research has a long history of funding research into rare childhood diseases. Dr Caroline Johnston, senior research manager at the charity, said: "We are committed to funding groundbreaking research that will ultimately lead to improvements in the diagnosis and treatment of rare diseases. "This project accelerates the research process by supporting researchers to test existing as well as new drugs to determine their safety and effectiveness at controlling seizures. "We look forward to the findings, as they could be the first step in identifying a potential treatment."