About- One in 14 Million
After Fields suffered her first seizure at 15 weeks old we have been on a very difficult journey to find
answers and this year we have finally arrived at her diagnosis. She has been
diagnosed as having a very rare genetic condition called Glut 1 deficiency
syndrome. Less than 500 people are diagnosed worldwide and there is currently
The only way to manage the syndrome is to follow the food regime known as the Ketogenic diet and with the
aid of the hospital we are hoping to start this diet soon and we are keeping
our fingers crossed that it will have a positive outcome.
The diagnosis is not the end of the story; it is only the beginning of a new chapter in a life long journey.
What Glut1 means for Fields:
Glut1 means that Fields’ brain is starved of energy and her body cannot transport the glucose it needs
to function properly; this means she is constantly trying to run on flat
batteries and it affects all elements of her life.
Not only does she suffer from having seizures but her development is also delayed which means that this
syndrome is affecting the way she can move, think and learn. She is a
beautiful, happy three year old but at present she has not learnt to walk or
talk and she has to have daily support so she can try and lead as normal a life
There is no cure for Glut1; The only treatment is the Ketogenic diet. This diet
is exceptionally strict, it is a high fat, low protein, low carbohydrate
diet that burns fat for energy instead of glucose. Ketones are formed when fat
is metabolized, passing into the brain and replacing glucose as its source of
Usually the diet means that Glut1 sufferers have to have a diet with a ratio of three parts fat to one part
carbohydrates & protein. Fields will require shots of special oil 30ml 4 times a day.
Fields will not be able to enjoy the normal childhood treats that other children enjoy and she will have
to grow up knowing that if she fails to stick to her diet she may not be able
This is only the very start of a life long journey and although we have a diagnosis there are still so many
questions we don’t have answers to.
In July 2013 the Glut1 Deficiency Foundation are holding a conference in Houston, Texas where we can
meet with Dr Devivo, the doctor who first discovered the syndrome. This
conference gives the families living with Glut 1 the opportunity to meet with
Doctor Devivo and will provide them with the support that is not currently
available in the UK
We are also hoping to learn about alternative treatments the Foundation are trying to develop and just how
far into Fields’ future this may be. We are hoping to raise £5,000 to send Fields and her parents to Texas where they can speak with Dr Devivo about Fields’ case, any remaining money’s will be
spilt between the Glut1 Foundation and Mathews Friends. This conference could help
us find the answers we so desperately need. We are hoping you can support her