Nathan
Nathan Richman
Our family started this journey with Glut1 when Nathan was 14 months old. That is when he had is first Tonic-Clonic seizure. Of course the doctors said it was a Febrile Seizure and they sent him home, no other testing done and no other questions asked. For me that was kind of odd but apparently this was quite normal so I went with it. He was developing normally except for his speech, which was definitely behind and he always seemed a little more noodly then most children his age. I would have to say I was pretty naive being that he was my first and everyone always said that children developed at their own pace so I just agreed and kept waiting for things to change.
To tell you a little about him…He loves to explore and take long walks in the park and you could tell he would take every experience in. He is my little outdoor man, he would stay outside for hours if he could. He has the brightest smile, the biggest eyes and the longest eyelashes I have ever seen. He really touches everyones heart that he meets. And he loves, loves, loves dinosaurs and whales!!!
Anyways back to the story. The next scariest day of my life was Halloween of 2009. I had just found out the day before that Nathan would be a big brother and we were in Walmart shopping before we got ready to trick or treat that night. I turned to grab some cookies, turn around and Nathan is in a full blown seizure in the basket. I take him out as people are rushing to me and I ask someone to call 911. At first I thought the paramedics would tell me that he had a fever again and we could head home but that was not the case. They did some blood work, ran a couple of tests, and took his blood sugar. Of course they all came back normal but now he officially had epilepsy. We had an EEG about a month later, of course that was normal too. Interestingly enough I started thinking it had something to do with food because both were around the time he normally eats but we were running late or at the store. I thought it was linked to diabetes, I had never heard of Glut1 before. After that seizure to be honest I don’t remember him having any other for about a year although I’m sure there were some I just wasn’t aware of most types of seizures so I wasn’t looking for anything.
In September of 2010 I started seeing drops, they were very violent drops where he would fall backwards and smack his head on the ground. Talk about hard to watch. That’s when I knew something else was going on. This is when the seizures became more frequent. We had more tests done, started 1 of the 7 meds he’s been on. Nothing helped and all the tests were normal. We even had genetic testing done but they didn’t do a seizure panel so no wonder they didn’t find anything. Then suddenly they stopped for about 10 months. I almost forgot about them (yeah right). Then it started all over again, helmets, seizures, speech got worse, coordination was bad. We switched meds and started the same tests. Once again it was normal. Finally we got a diagnosis, Doose Syndrome, but his story didn’t quite fit into that box. So we went with it because his seizures did fit the profile. Our genetic testing had just been done and we had to wait 2 long months for the results.
Finally 2 months after he turned 4 and a week before we went in to start the Ketogenic Diet we got a call that it was Glut1. I was shocked but glad we finally had a true answer. We were already going in for the diet so I knew we were on the right path. Its been about 2 1/2 months and we still haven’t seen much of a reduction in seizures but we are hopeful that this will work. We have been told that since he has had uncontrolled seizures for so long it may have messed up his brain and now his brain has become accustom to having them so there may not be anything we can do. I am confident that this isn’t the case and I know one day we will be a success story. Nathan is my hero and I look up to him everyday, I know if I were in his shoes I would not be as loving, happy and upbeat as he is everyday. We love our little man and we are so proud of him!
To tell you a little about him…He loves to explore and take long walks in the park and you could tell he would take every experience in. He is my little outdoor man, he would stay outside for hours if he could. He has the brightest smile, the biggest eyes and the longest eyelashes I have ever seen. He really touches everyones heart that he meets. And he loves, loves, loves dinosaurs and whales!!!
Anyways back to the story. The next scariest day of my life was Halloween of 2009. I had just found out the day before that Nathan would be a big brother and we were in Walmart shopping before we got ready to trick or treat that night. I turned to grab some cookies, turn around and Nathan is in a full blown seizure in the basket. I take him out as people are rushing to me and I ask someone to call 911. At first I thought the paramedics would tell me that he had a fever again and we could head home but that was not the case. They did some blood work, ran a couple of tests, and took his blood sugar. Of course they all came back normal but now he officially had epilepsy. We had an EEG about a month later, of course that was normal too. Interestingly enough I started thinking it had something to do with food because both were around the time he normally eats but we were running late or at the store. I thought it was linked to diabetes, I had never heard of Glut1 before. After that seizure to be honest I don’t remember him having any other for about a year although I’m sure there were some I just wasn’t aware of most types of seizures so I wasn’t looking for anything.
In September of 2010 I started seeing drops, they were very violent drops where he would fall backwards and smack his head on the ground. Talk about hard to watch. That’s when I knew something else was going on. This is when the seizures became more frequent. We had more tests done, started 1 of the 7 meds he’s been on. Nothing helped and all the tests were normal. We even had genetic testing done but they didn’t do a seizure panel so no wonder they didn’t find anything. Then suddenly they stopped for about 10 months. I almost forgot about them (yeah right). Then it started all over again, helmets, seizures, speech got worse, coordination was bad. We switched meds and started the same tests. Once again it was normal. Finally we got a diagnosis, Doose Syndrome, but his story didn’t quite fit into that box. So we went with it because his seizures did fit the profile. Our genetic testing had just been done and we had to wait 2 long months for the results.
Finally 2 months after he turned 4 and a week before we went in to start the Ketogenic Diet we got a call that it was Glut1. I was shocked but glad we finally had a true answer. We were already going in for the diet so I knew we were on the right path. Its been about 2 1/2 months and we still haven’t seen much of a reduction in seizures but we are hopeful that this will work. We have been told that since he has had uncontrolled seizures for so long it may have messed up his brain and now his brain has become accustom to having them so there may not be anything we can do. I am confident that this isn’t the case and I know one day we will be a success story. Nathan is my hero and I look up to him everyday, I know if I were in his shoes I would not be as loving, happy and upbeat as he is everyday. We love our little man and we are so proud of him!
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