Rianne'S STORY

Rianne was born on the 20.07.05 weighing 8lbs 12oz.

We didn't realise anything was wrong for the first week. That morning she was pulling up her legs, at first I thought it was just wind but it went on for ages. So took her to the G.P's from there we was rushed to the hospital in a ambulance. They done some scans and we was taken into a room and was told that she was going to be severely disabled. She spent a week in the neonatal where she had a MRI and then was told she had microcephaly. Then at a month old she started choking on her feeds so was put on reflux meds. She was quite stable up till her first birthday when she started to choke again and seemed to lose her ability to suck. Which lead to lots of chest infections.

I finally got the hospital to do some blood test, they came back with raised lactated acid so did more blood test followed by a skin and muscle biopsy. 15 months later was told Rianne had PDH. It was good to finally have a diagnosis. Her metabolic consultant said about trying her on the ketogenic diet. By now she was nearly 3. The diet was a godsend, she was awake a lot more then started to notice things turn her head if she heard a noise(was told she was deaf and blind) she even stated to play with toys and make sounds. Rianne was born on the 20.07.05 weighing 8lbs 12oz. We didn't realise anything was wrong for the first week. That morning she was pulling up her legs, at first I thought it was just wind but it went on for ages. So took her to the G.P's from there we was rushed to the hospital in a ambulance.

They done some scans and we was taken into a room and was told that she was going to be severely disabled. She spent a week in the neonatal where she had a MRI and then was told she had microcephaly. Then at a month old she started choking on her feeds so was put on reflux meds. She was quite stable up till her first birthday when she started to choke again and seemed to lose her ability to suck. Which lead to lots of chest infections. I finally got the hospital to do some blood test, they came back with raised lactated acid so did more blood test followed by a skin and muscle biopsy. 15 months later was told Rianne had PDH. It was good to finally have a diagnosis. Her metabolic consultant said about trying her on the ketogenic diet. By now she was nearly 3. The diet was a godsend, she was awake a lot more then started to notice things turn her head if she heard a noise(was told she was deaf and blind) she even stated to play with toys and make sounds. 3 years ago her scoliosis was so bad she had rods insert in her back to stop the curve, about every 6 months she has to have the rod lengthen. She will get her back fused when she is big enough.

3 years ago her scoliosis was so bad she had rods insert in her back to stop the curve, about every 6 months she has to have the rod lengthen. She will get her back fused when she is big enough.