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.
Wednesday, June 20, 2012
Update on Peter
A Peter update:
Peter has improved some developmentally while on the ketogenic diet. His poor vision probably hampers his development as well. Now he will at least lie under a baby "gym" and whack at the toys with both arms and legs to make the music go. (Before he didn't seem to even realize he had arms to do anything with.) So although he does not yet deliberately touch things with his hands or hold things, at least he will move his arms to make things happen. His vision is improving slightly - I guess it's a matter right now of his brain learning to use whatever vision he has. One of his therapists who comes regularly is giving me ideas of things to do to encourage him to use his vision.
His latest drug (started in May) looked really good for the first few days and then not so helpful after that. Because of the potential for serious side effects, and because it was not stopping Peter's spasms as hoped, we are tapering off that drug and (at the same time) starting a different one. Please pray that something will be found to stop the spasms so that his brain can function more properly and help his development.
We don't know for sure if the diet could be helpful in stopping Peter's spasms, because it has not ever given quite the blood levels that it should to be helpful. Some things are being modified to see if that can be improved. Please pray that this would work so that we can see if it would help after all in regard to seizures / spasms. Pray too for a good relationship with our dietitian (who controls the diet), who knows a huge amount about the diet and manages it for lots of kids, but is resistant to changing things from the way she wants them (or to the parent having much control over the diet). We tend to "butt heads" frequently over things, and I haven't yet figured out how to advocate for my child while at the same time being a witness for Jesus in my interactions with her. I haven't figured out how to be a witness in almost any of my neurology appointments, since they usually end up with me in tears over something. Either frustration over drugs and treatments not working, or frustration with the dietitian's unwillingness to change anything easily. Or something. I feel like I ought to be above that, serene and accepting meekly whatever circumstance Jesus puts me and Peter in, always remembering that He is in control and loves me and is wise and powerful. And then I look at Peter and am sad over what he is not and may never be. And I need to learn from Joni to rejoice in whatever there is good in my situation. Which there is a lot of.
Peter has improved some developmentally while on the ketogenic diet. His poor vision probably hampers his development as well. Now he will at least lie under a baby "gym" and whack at the toys with both arms and legs to make the music go. (Before he didn't seem to even realize he had arms to do anything with.) So although he does not yet deliberately touch things with his hands or hold things, at least he will move his arms to make things happen. His vision is improving slightly - I guess it's a matter right now of his brain learning to use whatever vision he has. One of his therapists who comes regularly is giving me ideas of things to do to encourage him to use his vision.
His latest drug (started in May) looked really good for the first few days and then not so helpful after that. Because of the potential for serious side effects, and because it was not stopping Peter's spasms as hoped, we are tapering off that drug and (at the same time) starting a different one. Please pray that something will be found to stop the spasms so that his brain can function more properly and help his development.
We don't know for sure if the diet could be helpful in stopping Peter's spasms, because it has not ever given quite the blood levels that it should to be helpful. Some things are being modified to see if that can be improved. Please pray that this would work so that we can see if it would help after all in regard to seizures / spasms. Pray too for a good relationship with our dietitian (who controls the diet), who knows a huge amount about the diet and manages it for lots of kids, but is resistant to changing things from the way she wants them (or to the parent having much control over the diet). We tend to "butt heads" frequently over things, and I haven't yet figured out how to advocate for my child while at the same time being a witness for Jesus in my interactions with her. I haven't figured out how to be a witness in almost any of my neurology appointments, since they usually end up with me in tears over something. Either frustration over drugs and treatments not working, or frustration with the dietitian's unwillingness to change anything easily. Or something. I feel like I ought to be above that, serene and accepting meekly whatever circumstance Jesus puts me and Peter in, always remembering that He is in control and loves me and is wise and powerful. And then I look at Peter and am sad over what he is not and may never be. And I need to learn from Joni to rejoice in whatever there is good in my situation. Which there is a lot of.
Friday, June 8, 2012
An Enigma
Peter is an enigma. That has to be ok. I have to be content to know that nobody knows what is wrong with him, not really, nor why the drugs and treatments are not working. I have to be content if none of the drugs ever work. Content to have the almost certainty of a significantly handicapped child, mentally if not otherwise. Content to rest in Jesus for His wisdom and care and power, rather than putting yet another vain hope in this next drug to maybe make everything better. Content to have Peter's vision never improve.
I'm not there yet. But the sooner I am, the less agitated my heart will be. It won't take away the tears of disappointment, frustration, and grief. But perhaps it would give a song through the pain.
I'm not there yet. But the sooner I am, the less agitated my heart will be. It won't take away the tears of disappointment, frustration, and grief. But perhaps it would give a song through the pain.
Tuesday, March 6, 2012
weary days
It's easy to be discouraged lately. To not fix my eyes on Christ but rather on my surroundings.
In December Peter was put on ACTH (like a steroid) which lasted 10 weeks before he was totally off it - in an attempt to stop his infantile spasms. This works for lots of kids, but wasn't much permanent help for him. Instead we got 2 months of a sad and miserable Peter who was hungry all the time and did not sleep well. His spasms (which are like seizures) improved while on the ACTH, but now that he's totally off it, they are almost as they were before we started treatment.
He's been on 2 anti-epileptic drugs, which did nothing for the spasms, although one of them seemed to stop his other (longer) seizures from occurring. Since then we have received results from a gene testing panel that was sent off in December, and the one gene that showed a problem was one that causes a person to have glucose transporter deficiency (glut-1 for short). This means that the protein that transports glucose into the brain is not functioning properly, so the brain does not get the energy it needs.
The one and only real treatment for this is to put the person on the ketogenic diet, or some form of it, so that the body burns fat instead of carbs (glucose) for energy. The resulting ketones in the blood can then be used by the brain for energy.
We do thank God very much for granting us this diagnosis so early in Peter's life, as many kids are not diagnosed till years later, after the time when the brain most needs its energy for growth.
So Peter has started this ketogenic diet. It's mostly fat (oil and a special formula). However, he wasn't drinking the volume of fluids recommended when having this diet, so he has ended up with a stomach feeding tube (g-tube). Theoretically he can still take things by mouth, but I don't think he likes the taste of what he's eating, so lately he won't take anything by mouth. Which is frustrating to me, since he needs the oral stimulation of eating and nursing to help his future speech development. And, I haven't seen much if any benefit from the diet yet, which is also discouraging. For some kids it takes longer to work, apparently. It just makes me wonder if this is really the thing to do. But we really don't have any other option.
Also his vision is pretty bad. Probably they would call it CVI (cortical visual impairment), which basically means the brain is not interpreting what his eyes see correctly. Possibly he also has optic nerve problems, which would make the issue worse. We know he can see light and bold patterns, but he doesn't respond well visually to the world in general.
At least he is generally happy now (a wonderful change from his first 8-9 months), and opens his eyes a little more than he used to. And he does smile some. I'm thankful for those things.
It's easy to forget that in my trials, the Lord is yet "compassionate and merciful."
"Indeed we count them blessed who endure. You have heard of the perseverance of Job and seen the end intended by the Lord—that the Lord is very compassionate and merciful." (James 5:11)
O to remember that. And that heaven is not far away.
In December Peter was put on ACTH (like a steroid) which lasted 10 weeks before he was totally off it - in an attempt to stop his infantile spasms. This works for lots of kids, but wasn't much permanent help for him. Instead we got 2 months of a sad and miserable Peter who was hungry all the time and did not sleep well. His spasms (which are like seizures) improved while on the ACTH, but now that he's totally off it, they are almost as they were before we started treatment.
He's been on 2 anti-epileptic drugs, which did nothing for the spasms, although one of them seemed to stop his other (longer) seizures from occurring. Since then we have received results from a gene testing panel that was sent off in December, and the one gene that showed a problem was one that causes a person to have glucose transporter deficiency (glut-1 for short). This means that the protein that transports glucose into the brain is not functioning properly, so the brain does not get the energy it needs.
The one and only real treatment for this is to put the person on the ketogenic diet, or some form of it, so that the body burns fat instead of carbs (glucose) for energy. The resulting ketones in the blood can then be used by the brain for energy.
We do thank God very much for granting us this diagnosis so early in Peter's life, as many kids are not diagnosed till years later, after the time when the brain most needs its energy for growth.
So Peter has started this ketogenic diet. It's mostly fat (oil and a special formula). However, he wasn't drinking the volume of fluids recommended when having this diet, so he has ended up with a stomach feeding tube (g-tube). Theoretically he can still take things by mouth, but I don't think he likes the taste of what he's eating, so lately he won't take anything by mouth. Which is frustrating to me, since he needs the oral stimulation of eating and nursing to help his future speech development. And, I haven't seen much if any benefit from the diet yet, which is also discouraging. For some kids it takes longer to work, apparently. It just makes me wonder if this is really the thing to do. But we really don't have any other option.
Also his vision is pretty bad. Probably they would call it CVI (cortical visual impairment), which basically means the brain is not interpreting what his eyes see correctly. Possibly he also has optic nerve problems, which would make the issue worse. We know he can see light and bold patterns, but he doesn't respond well visually to the world in general.
At least he is generally happy now (a wonderful change from his first 8-9 months), and opens his eyes a little more than he used to. And he does smile some. I'm thankful for those things.
It's easy to forget that in my trials, the Lord is yet "compassionate and merciful."
"Indeed we count them blessed who endure. You have heard of the perseverance of Job and seen the end intended by the Lord—that the Lord is very compassionate and merciful." (James 5:11)
O to remember that. And that heaven is not far away.
Friday, December 30, 2011
Jesus' love
how do you love someone
who gives you nothing in return?
rarely smiles
never laughs
has nothing to offer you?
how do you give and give and give
without growing weary?
I guess that's what Jesus did
for me...
remembering that
I can love out of love for Him
who gives you nothing in return?
rarely smiles
never laughs
has nothing to offer you?
how do you give and give and give
without growing weary?
I guess that's what Jesus did
for me...
remembering that
I can love out of love for Him
jars of clay
back to real life
Christmas can't last forever
a break has been nice
but the weary days must return
I'm feeling like "jars of clay"
need to trust God for His strength
the excellence of the power is His and not mine
may I lift my eyes
lean on Him
focus on His beauty
may His power be perfected
in my weakness
Christmas can't last forever
a break has been nice
but the weary days must return
I'm feeling like "jars of clay"
need to trust God for His strength
the excellence of the power is His and not mine
may I lift my eyes
lean on Him
focus on His beauty
may His power be perfected
in my weakness
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