Girl, 3, with rare genetic disorder speaks first words after starting diet that involves eating a kilo of CREAM CHEESE each week
By Rachel Reilly
Daily Mail UK
A girl with a rare genetic condition has finally spoken her first words thanks to a diet that involves eating four tubs of cream cheese a week. Three-year-old Fields Taylor from Melton Mowbray in Leicestershire, suffers from a disorder called Glut1 Deficiency Syndrome, which affects her ability to speak. But miraculously, after starting a high-fat, low-sugar diet – which includes eating almost a kilo of Philadelphia a week – she has finally spoken her first words.
Delighted mother, Stevie, 34, said: “The first time I heard Fields say “Mum” it was just wonderful.I didn’t really believe that something so simple as changing her diet could make such a big difference.”
Fields suffers from an extremely rare syndrome called Glut1 Deficiency (GD1). Fewer than 300 cases have been reported since the disease was identified in 1991 and there are only 25 known cases in the UK. GD1 is a genetic condition that primarily affects the brain and is caused by a defect in the SLC2A1 gene, which is responsible for making a protein called the glucose transporter protein type 1 (GLUT1). This protein is responsible for transporting glucose (a simple sugar) from the blood into the cells for energy. This causes the brain to be starved of energy which can result in a variety of symptoms. Most, but not all, patients develop seizures within the first few months of life. These seizures are very difficult to treat with the common anti-seizure medications. Other symptoms include learning disabilities, stiffness, difficulty in coordinating movements, speech abnormalities, fatigue, muscle twitches and headaches.
[M]any people have reported a great reduction in symptoms from the Ketogenic Diet. The diet is a very restrictive calorie-limited, high-fat diet. No sugar is allowed and minimal carbohydrate is included. The diet is so precise that children on it must avoid even topical ingredients – such as medications or toothpastes – that might contain sugar. Strict compliance with this diet causes the liver to produce ketones which are used by the brain as an alternative fuel source.
Stevie said: “At first I was pretty dubious about the diet – I didn’t see how food could make such a big difference. But within weeks you could see it working, she was more alert and her personality seemed to come out a bit more. Then, one morning I was in the kitchen and all of a sudden I heard this little voice shout ‘mum’. I dropped what I was doing and ran into the direction of Fields and just couldn’t believe what I was hearing. There’s been times that I never thought I’d hear her speak. I was just over the Moon.”
Finish reading the story here: http://www.dailymail.co.uk/health/article-2368362/Girl-3-rare-genetic-disorder-speaks-words-starting-diet-involves-eating-kilo-CREAM-CHEESE-week.html