melissa924
Earning My Ears
- Joined
- Dec 29, 2011
- Messages
- 32
After lurking here for weeks I have finally decided to do a pre trip report for my daughter Joelle!
Joelle(5) has been granted a wish by MAW!! We are going to Disney and staying at GKTW in Febuary!!
Here is the story of Joelle's journey....
Joelle started having seizures when she was 3 days old.... this would begin the very long road to her diagnosis. Her seizures were very different than your typical seizure (if there is such a thing) so in the begining her doctors didn't think it was anything to be concerned about.... boy were they wrong... At around 2 months old her seizures increased and after much insisting from us they decided to do an eeg and refer her to a pediatric nuerologist. (which of course the wait to see him would be 3 months) The eeg was clear but when she was examined by the nuero he diagnosed her with epilepsy, hypotonia and developmental delay. She started taking seizure medication and also started physical, occupational and speech therapies. Over the next 3years Joelle had EEGs, MRIs, an MRS, a spinal tap, and a muscle biopsy, I could not begin to name all of the blood and urine samples that were taken trying to find an answer. Still none. They tried her on 5 different seizure medications, none of which worked, all of which robbed her of who she is. They made her less alert and more unsteady. She had seen over a dozen doctors.. still nothing. Her seizures just seemed to be increasing some days she would have more than 100 seizures. At 3 years old he was not able to stand, walk or talk. She had never even laughed. We had even had one doctore tell us we would have to wait on them to get smarter! Eventually one of her doctors revisited one of her earlier test and realized what it was on May 24, 2010 we finally had an answer. She has Glucose Transporter Deficency Syndrome(GLUT1DS). In short GLUT1DS is a genetic disorder that impairs brain metabolism. Joelle's brain does not process glucose correctly leaving her brain starved for energy and unable to perform its functions correctly. The only treatment is the ketogenic diet. For more information on GLUT1DS visit http://glut1ds.org/ On July 6, 2010, Joelle was admitted to the hospital to begin the ketogenic diet. It was so heartbreaking. She had to fast for 24 hours before she could begin the diet. Then we started trying to introduce the diet, Joelle had other ideas, she refused to eat the things that the diet allowed her to eat and her blood sugar would not stay up, at one point it was only 28. At that point we were faced with the decision to stop the diet (which was the only treatment that would work for her) or have them place a g-tube. We decided on the g-tube. Which was the best decision we could have made. Joelle has been siezure free since she started the diet!!!
Joelle is doing well now, in the year and a half since we started the diet she has started walking and talking! We finally got to hear our baby laugh!!!
She still has a long road ahead of her. She has 6 therapy sessions on and average week. The diet is very restrictive it is a high fat, adequate protien and minimal carbohydrate diet. Everything she eats has to be calcualted and has to be weighed on a gram scale. There is not any room for error the slightest mistake can cause Joelle to have a seizure. Or if Joelle gets ahold of something she isn't susposed to have it can cause a seizure. We have to constantly be aware of our surroundings and be sure there isn't any food Joelle might get ahold of. She even has a nurse that goes to school with her to be sure she doesn't get anything she shouldn't have. This diet that has given her so much has also taken a lot away that is hard for a 5 year old to understand. She can not eat the treats that her friends do at school. She can not eat the same things as everyone around her. Joelle will never be able to eat candy, enjoy a holiday meal, have a "real" birthday cake or even eat an entire banana. So this diet that we love so much for all that it has given us is also a source for much frustration.
I will post about the rest of our family on the next post.
Here is a link to a newspaper article on Joelle it talks a lot about GLUT1 and the ketogenic diet http://heraldbulletin.com/local/x1199045814/Girl-conquers-daily-seizures-through-diet
Joelle(5) has been granted a wish by MAW!! We are going to Disney and staying at GKTW in Febuary!!
Here is the story of Joelle's journey....
Joelle started having seizures when she was 3 days old.... this would begin the very long road to her diagnosis. Her seizures were very different than your typical seizure (if there is such a thing) so in the begining her doctors didn't think it was anything to be concerned about.... boy were they wrong... At around 2 months old her seizures increased and after much insisting from us they decided to do an eeg and refer her to a pediatric nuerologist. (which of course the wait to see him would be 3 months) The eeg was clear but when she was examined by the nuero he diagnosed her with epilepsy, hypotonia and developmental delay. She started taking seizure medication and also started physical, occupational and speech therapies. Over the next 3years Joelle had EEGs, MRIs, an MRS, a spinal tap, and a muscle biopsy, I could not begin to name all of the blood and urine samples that were taken trying to find an answer. Still none. They tried her on 5 different seizure medications, none of which worked, all of which robbed her of who she is. They made her less alert and more unsteady. She had seen over a dozen doctors.. still nothing. Her seizures just seemed to be increasing some days she would have more than 100 seizures. At 3 years old he was not able to stand, walk or talk. She had never even laughed. We had even had one doctore tell us we would have to wait on them to get smarter! Eventually one of her doctors revisited one of her earlier test and realized what it was on May 24, 2010 we finally had an answer. She has Glucose Transporter Deficency Syndrome(GLUT1DS). In short GLUT1DS is a genetic disorder that impairs brain metabolism. Joelle's brain does not process glucose correctly leaving her brain starved for energy and unable to perform its functions correctly. The only treatment is the ketogenic diet. For more information on GLUT1DS visit http://glut1ds.org/ On July 6, 2010, Joelle was admitted to the hospital to begin the ketogenic diet. It was so heartbreaking. She had to fast for 24 hours before she could begin the diet. Then we started trying to introduce the diet, Joelle had other ideas, she refused to eat the things that the diet allowed her to eat and her blood sugar would not stay up, at one point it was only 28. At that point we were faced with the decision to stop the diet (which was the only treatment that would work for her) or have them place a g-tube. We decided on the g-tube. Which was the best decision we could have made. Joelle has been siezure free since she started the diet!!!
Joelle is doing well now, in the year and a half since we started the diet she has started walking and talking! We finally got to hear our baby laugh!!!
She still has a long road ahead of her. She has 6 therapy sessions on and average week. The diet is very restrictive it is a high fat, adequate protien and minimal carbohydrate diet. Everything she eats has to be calcualted and has to be weighed on a gram scale. There is not any room for error the slightest mistake can cause Joelle to have a seizure. Or if Joelle gets ahold of something she isn't susposed to have it can cause a seizure. We have to constantly be aware of our surroundings and be sure there isn't any food Joelle might get ahold of. She even has a nurse that goes to school with her to be sure she doesn't get anything she shouldn't have. This diet that has given her so much has also taken a lot away that is hard for a 5 year old to understand. She can not eat the treats that her friends do at school. She can not eat the same things as everyone around her. Joelle will never be able to eat candy, enjoy a holiday meal, have a "real" birthday cake or even eat an entire banana. So this diet that we love so much for all that it has given us is also a source for much frustration. I will post about the rest of our family on the next post.
Here is a link to a newspaper article on Joelle it talks a lot about GLUT1 and the ketogenic diet http://heraldbulletin.com/local/x1199045814/Girl-conquers-daily-seizures-through-diet
(9) Big Sister!
(12) Big Sister!
