Addie
Addie was born in December, 2011. To all, she appeared to be a normal, healthy little girl. For a number of reasons, Addie came to live with Deb and I – her grandparents. As she grew, we noticed that she missed some of the normal developmental milestones. She was late talking, and late crawling, but there is a range of normal so we were not overly concerned.
In October, 2012 we were driving across north Dallas when my wife looked back at Addie and noticed some peculiar behavior. Her head was moving back and forth, and her eyes were also jerking. We since have learned that these are typical early symptoms of Glut1. My wife was afraid she was having a seizure so we rushed to a local hospital that had a children's unit. By the time we got Addie into the ER, the jerking had stopped and she appeard to be normal. The hospital kept her over night with a EEG hooked up and monitored. After 24 hours, there was no abnormal brain activity so the doctors discounted the possibility of a seizure. She was discharged with no diagnosis.
Addie started walking at 13 months, in January 2013. Within weeks of walking, she started falling and was unable to get up. There was no warning or alerting behaviors prior to these episodes. One evening Addie started having an episode and my wife recorded it on her phone. We spoke with her pediatritian and showed her the video but she had no idea. This happened again so we took her to Dallas Children's ER. By chance, the director of the epilepsy unit was there and saw the video. She thought it was Episodic Ataxia. We told her that the episodes appear to be triggered by heat or physical exertion. Addie spent 2 days in Children's hooked up to a EEG and they tried to provoke a seizure using lights and found nothing. No sign of seizure activity.
At some point, Addie had a DNA test. The results we inconclusive yet did show some abnormalities in a couple of genes, one of which was associated with ataxia. Neither my wife or I had ever heard of this condition, so I did a little research and it did look like Addie's condition. She was placed on the nomral drug for that condition, but it did not stop the frequency or the duration of the episodes. After 6 months, I contacted the national Ataxia Foundation to find a specialist . They referred me to Dr. Abigail Collins at Denver Children's hospital.
We made an appointment to see her and in October 2013 we met with doctor Collins. We shared this history with her and the results of the DNA test. She talked to Addie, took her for a long walk and then told us that in her opinion Addie did not have Episodic Ataxia but had Glut1 Transporter Deficiency Syndrome. She said the only way to be 100% sure was to have a lumbar puncture. We asked about the syndrome and were provided with a little information about a condition we had never heard of, and some information about the Glut1 Deficiency Foundation.
We returned to Dallas and made arrangements for Addie to have the lumbar study done. The following January, the test was run. While Addie was still in the proceedure room, her neurologist came in and said it was definitely Glut1. Her blood glucose was normal but her spinal glucose was at 33 – about 30% of normal.
Based on these findings, the Ketogenic Diet was prescribed. We had a chance to meet with and discuss Addie with Dr. Pascual, who examined Addie and reviewed her history. He agreed with the diagnosis and the treatment with the diet, but he told us that the diet is pretty harsh on the body and must be started during a 3 day stay in the hospital. In March 2014 Addie started the diet. On her second day, she fell into what appeard to be a coma or extremely deep sleep immediately after a meal. She could not be woken. The nurses worked and tracked her vitals and eventually she did come back. We're still not sure what happened but obviously her young body was having a negative reaction to ketosis. This prompted an extra day as an inpatient. But by the end of day 4, she was normal and in ketosis.
She has now been on the diet for 3 1/2 years and has had no reoccurance of the ataxia. She goes in for blood work 3 times a year and seems to be progressing normally. Last year my wife, Deb passed away from brain cancer. We all miss her, but especially Addie. She tells me everyday that she misses her Nana. It was Deb who kept pushing the doctors for an answer and one day Addie will know how much her Nana loved her.
This year Addie wanted to meet other Glut1 kids. The York family in Oklahoma held a fundraiser in October. Since that was only a few hundred miles away, we went and Addie got to meet Abby. She so loved that short trip. Then a few weeks later, a Glut1 child from Pennsylania was due to meet with Dr. Pascual in Dallas. Addie got to meet and play with Millie at a local McDonalds.
I'm so grateful to Erin, Millie's mom, in making this meeting possible. Since Glut1 is so rare, these kids sometimes feel like they are the only one. It's wonderful that Addie had the opportunuty to meet two other little girls who face her same challenge.
Addie is now in Kindergarten and may be showing some signs of cognitive delay. She has always learned very quickly from what she hears. But, I have noticed a problem with visual letter and number identification. Since she is just now beginning to read and write, these issues weren't evident before. Her neurologist thinks this apparent lack of ability is probably an effect of Glut1.
We just had our annual recheck with Dr. Pascual. I told him that her movement sympotms are still under control with the diet, but she was showing some signs of cognitive delay or deficiency. She can't seem to learn how to recognize letters or numbers. She has no problem with word meaning or the concept of numbers, just can't recognize them visually. He said that he had hoped that she could avoid these cognitive components of Glut1, but sadly these are common observations with our kids.
Hopefully, this is merely the sign of a delay and not something more complicated.
Addie will undergo some psychological tests this spring to determine if they are indeed Glut1 effects or she possibly just has abnormal delays in some cognative processing abilities. The tests may also indicate if there are other deficiencies yet to manifest themselves, or if these issues will be overcome in time.
Even with this latest concern, I am very thankful that I found doctors who know what Glut1 is, how to identify it, and how to treat it. I am also grateful that Deb and I found the Glut1 family who give us all support, information, and helpful history. This will give Addie the best chance to live a normal, healthy, and productive life.
In October, 2012 we were driving across north Dallas when my wife looked back at Addie and noticed some peculiar behavior. Her head was moving back and forth, and her eyes were also jerking. We since have learned that these are typical early symptoms of Glut1. My wife was afraid she was having a seizure so we rushed to a local hospital that had a children's unit. By the time we got Addie into the ER, the jerking had stopped and she appeard to be normal. The hospital kept her over night with a EEG hooked up and monitored. After 24 hours, there was no abnormal brain activity so the doctors discounted the possibility of a seizure. She was discharged with no diagnosis.
Addie started walking at 13 months, in January 2013. Within weeks of walking, she started falling and was unable to get up. There was no warning or alerting behaviors prior to these episodes. One evening Addie started having an episode and my wife recorded it on her phone. We spoke with her pediatritian and showed her the video but she had no idea. This happened again so we took her to Dallas Children's ER. By chance, the director of the epilepsy unit was there and saw the video. She thought it was Episodic Ataxia. We told her that the episodes appear to be triggered by heat or physical exertion. Addie spent 2 days in Children's hooked up to a EEG and they tried to provoke a seizure using lights and found nothing. No sign of seizure activity.
At some point, Addie had a DNA test. The results we inconclusive yet did show some abnormalities in a couple of genes, one of which was associated with ataxia. Neither my wife or I had ever heard of this condition, so I did a little research and it did look like Addie's condition. She was placed on the nomral drug for that condition, but it did not stop the frequency or the duration of the episodes. After 6 months, I contacted the national Ataxia Foundation to find a specialist . They referred me to Dr. Abigail Collins at Denver Children's hospital.
We made an appointment to see her and in October 2013 we met with doctor Collins. We shared this history with her and the results of the DNA test. She talked to Addie, took her for a long walk and then told us that in her opinion Addie did not have Episodic Ataxia but had Glut1 Transporter Deficiency Syndrome. She said the only way to be 100% sure was to have a lumbar puncture. We asked about the syndrome and were provided with a little information about a condition we had never heard of, and some information about the Glut1 Deficiency Foundation.
We returned to Dallas and made arrangements for Addie to have the lumbar study done. The following January, the test was run. While Addie was still in the proceedure room, her neurologist came in and said it was definitely Glut1. Her blood glucose was normal but her spinal glucose was at 33 – about 30% of normal.
Based on these findings, the Ketogenic Diet was prescribed. We had a chance to meet with and discuss Addie with Dr. Pascual, who examined Addie and reviewed her history. He agreed with the diagnosis and the treatment with the diet, but he told us that the diet is pretty harsh on the body and must be started during a 3 day stay in the hospital. In March 2014 Addie started the diet. On her second day, she fell into what appeard to be a coma or extremely deep sleep immediately after a meal. She could not be woken. The nurses worked and tracked her vitals and eventually she did come back. We're still not sure what happened but obviously her young body was having a negative reaction to ketosis. This prompted an extra day as an inpatient. But by the end of day 4, she was normal and in ketosis.
She has now been on the diet for 3 1/2 years and has had no reoccurance of the ataxia. She goes in for blood work 3 times a year and seems to be progressing normally. Last year my wife, Deb passed away from brain cancer. We all miss her, but especially Addie. She tells me everyday that she misses her Nana. It was Deb who kept pushing the doctors for an answer and one day Addie will know how much her Nana loved her.
This year Addie wanted to meet other Glut1 kids. The York family in Oklahoma held a fundraiser in October. Since that was only a few hundred miles away, we went and Addie got to meet Abby. She so loved that short trip. Then a few weeks later, a Glut1 child from Pennsylania was due to meet with Dr. Pascual in Dallas. Addie got to meet and play with Millie at a local McDonalds.
I'm so grateful to Erin, Millie's mom, in making this meeting possible. Since Glut1 is so rare, these kids sometimes feel like they are the only one. It's wonderful that Addie had the opportunuty to meet two other little girls who face her same challenge.
Addie is now in Kindergarten and may be showing some signs of cognitive delay. She has always learned very quickly from what she hears. But, I have noticed a problem with visual letter and number identification. Since she is just now beginning to read and write, these issues weren't evident before. Her neurologist thinks this apparent lack of ability is probably an effect of Glut1.
We just had our annual recheck with Dr. Pascual. I told him that her movement sympotms are still under control with the diet, but she was showing some signs of cognitive delay or deficiency. She can't seem to learn how to recognize letters or numbers. She has no problem with word meaning or the concept of numbers, just can't recognize them visually. He said that he had hoped that she could avoid these cognitive components of Glut1, but sadly these are common observations with our kids.
Hopefully, this is merely the sign of a delay and not something more complicated.
Addie will undergo some psychological tests this spring to determine if they are indeed Glut1 effects or she possibly just has abnormal delays in some cognative processing abilities. The tests may also indicate if there are other deficiencies yet to manifest themselves, or if these issues will be overcome in time.
Even with this latest concern, I am very thankful that I found doctors who know what Glut1 is, how to identify it, and how to treat it. I am also grateful that Deb and I found the Glut1 family who give us all support, information, and helpful history. This will give Addie the best chance to live a normal, healthy, and productive life.
