Saturday, July 21, 2012
normal kids
Sometimes it's hard to see everyone else's kids. They scream to me "normalcy" and "health" with every smile, every toy played with, every look in the eyes. It's hard to remember that there are other kids out there who have issues too. Who have turned one and are nowhere near sitting up, let alone walking. Who are expected to never be normal or look normal. Who will fight for every bit of development and growth they gain, when all the others seem to come by it so naturally. It's easy to forget that God has blessed us with 3 "normal" kids (with their own issues), and that our number 4 is a blessing too in his own way. That God uses trials on purpose to do us good. That trials from His hand are given in love, the way that we put our kids through hard things because we want good for them to result.
Friday, July 13, 2012
Glut1 Deficiency Syndrome conference
Thanks to my dear husband's willingness to handle everything at home without me for a few days (and my friend Alice VanNostrand's willingness to have the kids over during the day while David worked for 2 days), I got to go with Peter to the annual Glut1 conference (this year, in Indianapolis). The 2 top researchers in the US and one from Germany were there to speak, along with some other people.
It was 1 1/2 days of being with experts and parents and Glut1 kids. It was informative, enlightening, encouraging, and also discouraging.
The sessions were very informative. I love medical journal articles anyway and being explained to about how things work in the body and the brain. It is fascinating to me. We got to hear, from the experts, a good explanation of glucose transporter deficiency, its symptoms, and its broad range of difference from patient to patient. Basically, the brain is not getting the energy it needs from glucose (normal food), so it is starving. We feed the brain alternate fuel by giving the person a high-fat diet instead, resulting in the body producing ketones, which the brain can use for food.
It was enlightening to hear other parents mention that their kids as babies used to do some of the same things Peter does, like gag on his food. And to hear in the sessions that there is a small percent (perhaps 20-25%) of glut1 cases where, like Peter, the ketogenic diet does not solve their seizure problem, though it seems to help in other ways.
It was encouraging to have other parents who have been through this, to talk to.
It was also discouraging. Somehow when you are told that your child has a problem that has a wide range of outcomes, from very mild to very severe, you hope that your kid will be a mild one, that if you can do the right things, he will come out ok. There is an unknown, and therefore I tend to assume that the worst case won't be us, because it is still possible we could be a mild case. At the conference I saw a bunch of glut1 kids. With very few exceptions, every one of them had trouble walking straight and trouble talking, to some degree or other. Most of them have obvious mental impairment of some sort. The "normal-looking" end of the glut1 spectrum is like the genius end of the normal-people spectrum. They grow up to be disabled adults unless they are on the normal end. And usually the seizure type indicates the severity of the disorder. Peter is on the extremely bad seizure end, the uncommon end with "intractable infantile spasms." Very few glut1 kids have that. Now, he does not seem to have a lot of the other movement disorder issues that many of them have (yet), with weird arm movements and things, so I don't know what that means.
I am glad I went. I don't know if I would go again soon till Peter was a bit older and we were further in our journey on this road, though I would miss hearing the experts' talks. I would miss the time with other people who are in the same situation, though I don't feel as at home as I wish with them because Peter is an anomaly, a weird case of glut1 with some other unknown problem too that affected his brain. They have never seen glut1 with brain abnormalities, though there is the occasional glut1 with some other genetic problem.
It was nice to hear that they have never seen any glut1 child on the autism spectrum. But then, they have never seen one like Peter either, with optic nerve problems and brain issues.
But my God knows. That should be enough.
It was 1 1/2 days of being with experts and parents and Glut1 kids. It was informative, enlightening, encouraging, and also discouraging.
The sessions were very informative. I love medical journal articles anyway and being explained to about how things work in the body and the brain. It is fascinating to me. We got to hear, from the experts, a good explanation of glucose transporter deficiency, its symptoms, and its broad range of difference from patient to patient. Basically, the brain is not getting the energy it needs from glucose (normal food), so it is starving. We feed the brain alternate fuel by giving the person a high-fat diet instead, resulting in the body producing ketones, which the brain can use for food.
It was enlightening to hear other parents mention that their kids as babies used to do some of the same things Peter does, like gag on his food. And to hear in the sessions that there is a small percent (perhaps 20-25%) of glut1 cases where, like Peter, the ketogenic diet does not solve their seizure problem, though it seems to help in other ways.
It was encouraging to have other parents who have been through this, to talk to.
It was also discouraging. Somehow when you are told that your child has a problem that has a wide range of outcomes, from very mild to very severe, you hope that your kid will be a mild one, that if you can do the right things, he will come out ok. There is an unknown, and therefore I tend to assume that the worst case won't be us, because it is still possible we could be a mild case. At the conference I saw a bunch of glut1 kids. With very few exceptions, every one of them had trouble walking straight and trouble talking, to some degree or other. Most of them have obvious mental impairment of some sort. The "normal-looking" end of the glut1 spectrum is like the genius end of the normal-people spectrum. They grow up to be disabled adults unless they are on the normal end. And usually the seizure type indicates the severity of the disorder. Peter is on the extremely bad seizure end, the uncommon end with "intractable infantile spasms." Very few glut1 kids have that. Now, he does not seem to have a lot of the other movement disorder issues that many of them have (yet), with weird arm movements and things, so I don't know what that means.
I am glad I went. I don't know if I would go again soon till Peter was a bit older and we were further in our journey on this road, though I would miss hearing the experts' talks. I would miss the time with other people who are in the same situation, though I don't feel as at home as I wish with them because Peter is an anomaly, a weird case of glut1 with some other unknown problem too that affected his brain. They have never seen glut1 with brain abnormalities, though there is the occasional glut1 with some other genetic problem.
It was nice to hear that they have never seen any glut1 child on the autism spectrum. But then, they have never seen one like Peter either, with optic nerve problems and brain issues.
But my God knows. That should be enough.
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