Gaby 5 yrs - Preschool 2001
Gaby's Own Web Page
Gaby was born on the 17th July 1995.
She lives in Newcastle, Sydney and is the youngest of four children to Seanne & Tony.
Gaby started the ketogenic diet in November 1999 at the local Children's Hospital. The diet was offerred as an alternative for Gaby's seizures and disorder.
|Gaby is seizure free & drug free.|
|Gaby's story as told by Seanne (her mum)|
|"At 8 weeks old, we found Gaby showing signs of developmental delay, and microcephaly. Following months of numerous tests, Gaby was diagnosed with a mitochondrial disorder called Pyruvate Dehydrogenase Deficiency. This is a degenerative neurological disorder caused through a deficiency of 1 enzyme in the mitochondria of each cell. The enzyme deficiency interferes with her body's ability to metabolise glucose and carbohydrates. To date there is no known cure."|
"As a result of her disorder, Gaby has epilepsy. This became an issue at 1 year of age when we noted Gaby having absences, and repetitive head and arm movements. She was very irritable, lacked eye contact, muscle control, had poor swallowing, severe reflux, and remained severely developmentally delayed.
Her reflux was helped with the aid of a fundoplication and gastronomy button. The gastronomy button was a blessing once she started anticonvulsants, as she had so many nasty side effects it affected her ability to swallow at all for some time."
"In November 1999, with the help of our neurologist and Dietitian at the local children’s Hospital Gaby was commenced on the ketogenic diet. We had been told the diet was used as a treatment for her mitochondrial disease, but could find little evidence of it’s success. However, as Gaby had 2 reasons to now try the ketogenic diet, we felt we had little to loose. Medication was no longer helping our daughter, and we could see her deteriorating each day. We didn’t know anyone else using the diet. We just read all we could find, then decided to give it a chance."
"The rest of this story is full of brighter news. We weaned Gaby from all medication within 3 months of starting the diet. This is much sooner than is recommended, but we felt the medications were doing far more harm, and Gaby’s best chance was to rid her of all that we could as soon as possible. For her, this worked!"
"Within 4 months of the diet, Gaby was rolling everywhere. We had to put her back in a cot to sleep, as she continually fell out of bed. She was covered in bruises, from getting herself into situations where she hurt herself. She was developing faster than we could keep up! We no longer feared Gaby was blind and deaf. She now focussed on us, toys, anything within her immediate surroundings, She turned when we spoke, and started to vocalise."
"Gaby is now 5 ˝ years old. She remains on the ketogenic diet. She will remain on the diet indefinitely, as it is also a treatment for her mitochondrial disorder. She is fed a formula via her gastrostomy, although we do offer solids most days to try and re-establish some oral skills. I make up Gaby’s keto ice-cream, based on cream, oil, and a little fruit, all whipped and frozen."
"Developmentally, Gaby remains very delayed, but continues to surprise us, and the medical profession with her health and achievements. She is a happy, content little girl, who can crawl like a snake, and charm the pants of anyone. She remains almost seizure free. Any absences these days can be usually contributed to illness or ketone level. As her underlying condition is degenerative, we do expect to see the re-emergence of seizures in the future, but this diet has given our daughter a quality of life no one else could have offered or expected. And for that we are very grateful.
|Vigabatrin - caused excessive drowsiness, even on the smallest dose.|
Lamotrogine - Gaby developed the dreaded ‘rash’and peripheral oedema
Rivotril - Gaby developed excessive secretions. She became cold, mottled, and we thought she was dying from pneumonia. On stopping the drug, Gaby improved dramatically.
Phenobarb - gave good control for a while, then...
Epilim - was added. Soon, the seizures returned, so...
Dilantin - was added. By 3 ˝ years Gaby was on 3 anticonvulsants. She was unable to sit or roll. She continued to have absences regularly. Some days she was ‘so off the air’, I don’t think she was aware of her surroundings at all.
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