Most parents anticipate the day their child learns to drive or graduates from college, big important milestones in life. I just want my child to be able to independently hold up his head and maybe sit on his own. that's it. that's all I ask. Those 2 milestones would be HUGE. It would allow him to use a regular high chair to eat at instead of having to have a special needs feeding chair. It would allow us to bathe him in the regular bathtub or a bigger baby bathtub instead of a special needs bath seat. I'm sure if he were doing those things I'd be wishing he could crawl, or walk. or talk. But for now, I just want him to hold his head up. It would be a huge milestone for us and we'd probably throw a party in his neck's honor.
We had a great week, no major seizure activity as far as we could see, lots of therapy sessions for the little guy and tons of increased movement and activity. Almost too much in fact since he's hardly sleeping at night now and we are up throughout the night trying anything to get him to settle down and go to sleep. He just wiggles and yells and throws his arms and legs around. He's not upset, most of the time he's laughing or just "talking" so we don't really know what to do for him. Maybe it's the medication increase and the dreaded "hyper-active" side effect we haven't seen much of yet.
True to form, Oliver had an awful seizure this afternoon following his neurology appt. It never fails that we meet with our doc, have a great discussion, put plans in place moving forward and everyone feels hopeful and optimistic...and then walking out....that sense of dread that we just jinxed everything...and then the seizure hits. Amazing how consistent that is.
But we have to be grateful for the amazing week we've just had, and remember there are others out there who have bigger and more complex issues to deal with and maybe we don't have it so bad after all. Seizures aside...Oliver is pretty darn healthy for a little guy with CDG and we can't complain much about that.
We've been given the ok and the advice of 3 separate neurologists to go forward with the Ketogenic Diet. So we'll do another 24hour VEEG next week to see what's going on with Oliver's little brain and then try to get schedule in for hospitalization to start the diet in the next few weeks. No med changes until we have the diet well under way. If things are going smoothly, we'll slowly wean the meds starting with the finishing of the clonazepam wean.
Hoping this diet works to both control the seizures as much as possible and to give Oliver a little break from meds to see what his development is like when he's just a baby and not a medicated baby.
Friday, August 27, 2010
Friday, August 20, 2010
Home Sweet Home
well we are back from Mayo. It was a long trip but it was great to see so many family members while were in Minnesota. Tobin had a great time with his cousins and visiting Grandma Eunice and Papa Bill and staying at Aunt Lisa's house. Our hospital schedule wasn't too intensive and Jason and I even got to sneak away for a date night at the Twins/White Sox game.
Will try to update about our medical appts but there is lots of info. It's all a blur as there was so much discussed during the time but we basically walked away with the realization that Oliver is severely affected by both the IS and CDG so we're just going to start making arrangements going forward for living with a disabled child. Have our PT from EI coming tonight and we're going to talk about getting the process started for a bath chair and feeding chair for now and then look into adaptive strollers that will grow with him. We'll try to start putting away a few bucks a day toward getting a roomier vehicle to accommodate a bigger /more supportive carseat and adaptive stroller, etc. We are going to look into insurance and other organizations to try and help fund some of the equipment Oliver needs and then try and buy some of the equipment that we think would help him but that insurance won't pay for.
Oliver's skin biopsy went well and the stitches can come out next week. I wasn't able to watch it happen as things like that make me queasy but I was in the room and Oliver didn't feel any pain or have any problems with it. We'll have initial results in about 6 weeks and then if his cells don't match any of the known CDG patterns they will try to map his DNA a bit further and isolate the gene or genes that have the mutation. This won't really help Oliver as there aren't any treatments currently, but it is important for further prenatal testing for me or if Tobin has children some day. Drs will be able to test the baby and know for sure if he or she is affected by CDG. Tobin has a 50% chance of being a carrier, 25% chance of not being a carrier. We already know he is not affected. And maybe, if someone , someday discovers a treatment to help CDG patients with Oliver's specific subtype...we'll already know his type and we'll be able to start treatment right away. It's a tricky situation as there really isn't funding or a big push to research CDG and treatments so I won't get my hopes up that there will be treatments one day. For now we just need to treat the symptoms of the disorder.
The good/bad news is, the spasms/seizures seem to be the worst of his CDG symptoms, so we really only have to focus on those. It sucks that he has seizures that are so hard to control but we're feeling grateful we don't have any other major health issues to tackle right now. So we're just going to be very diligent in finding the right treatment to try and get them under control before they progress into another seizures type. That's really our only hope at the moment. We'll just be aggressive regarding the seizures and keep going with as many therapies as we can afford.
We are able to do Ketogenic diet even though he has CDG because he hasn't shown to have any issues with a variety of foods yet and they think his organs will hold up well with the diet, so that will be our next treatment if this larger dose of Vigab doesn't work. I haven't written it off yet, but we're almost a full 2 weeks into the increased dose and he's still having spasms although yesterday's cluster was so subtle and quick that no one would have noticed if I wasn't sitting and staring right at him. Maybe, just maybe, they're lessening in intensity...but we'll see. Our little guy always surprises us, just when we think he's seizure free, they come back with a vengeance. If Keto doesn't work we'll try ACTH and then move on to 2nd line meds from there. I'm a bit torn as to which to do next (Keto vs ACTH) because when Oliver did have one single shot of ACTH he had a seizure free month immediately following which leads me to believe it just might work. But both the epileptologist and the neuro at Mayo said they would try Keto first as it's got less side effects and higher chance of working than the ACTH. Always hard to make this decision when you feel like you're wasting precious time trying to get the seizures under control, but I am going to have to learn patience in order to live life with a severely delayed baby so this is just the first step.
Trying to understand more about CDG we've been googling and trying to find an explanation that is helpful for people (like us) who are not bio-chemists. My mom found this one and the answer is very basic but understandable:
http://publications.nigms.nih.gov/chemhealth/chemist_freeze.htm
Oliver handled the trip very well, with the exception of an awful non stop cluster of spasms on the car ride up to Minnesota. We had to give him a full clonazepam to get them to settle down but aside from that he has been napping great and generally happy. He is even trying harder to roll over. the past few days he's been on his back and really arching his back and turning his head and upper body. once he coordinates his chubby little leg and gives it one swift kick he is going to roll right over! So maybe in the next few months. Perhaps instead of holding his head up by his first birthday, he'll roll over instead. His therapist has recommended using some of these:
http://www.spioworks.com/
we'll see if the squeezy input from the clothing will help him have better awareness of his body.
Also on my wish list:
a Wingbo swing: http://www.wingbousa.com/
some type of adaptive swing for indoor or outdoor use: http://www.especialneeds.com/tfh-high-backed-swing-seats.html
Will try to update about our medical appts but there is lots of info. It's all a blur as there was so much discussed during the time but we basically walked away with the realization that Oliver is severely affected by both the IS and CDG so we're just going to start making arrangements going forward for living with a disabled child. Have our PT from EI coming tonight and we're going to talk about getting the process started for a bath chair and feeding chair for now and then look into adaptive strollers that will grow with him. We'll try to start putting away a few bucks a day toward getting a roomier vehicle to accommodate a bigger /more supportive carseat and adaptive stroller, etc. We are going to look into insurance and other organizations to try and help fund some of the equipment Oliver needs and then try and buy some of the equipment that we think would help him but that insurance won't pay for.
Oliver's skin biopsy went well and the stitches can come out next week. I wasn't able to watch it happen as things like that make me queasy but I was in the room and Oliver didn't feel any pain or have any problems with it. We'll have initial results in about 6 weeks and then if his cells don't match any of the known CDG patterns they will try to map his DNA a bit further and isolate the gene or genes that have the mutation. This won't really help Oliver as there aren't any treatments currently, but it is important for further prenatal testing for me or if Tobin has children some day. Drs will be able to test the baby and know for sure if he or she is affected by CDG. Tobin has a 50% chance of being a carrier, 25% chance of not being a carrier. We already know he is not affected. And maybe, if someone , someday discovers a treatment to help CDG patients with Oliver's specific subtype...we'll already know his type and we'll be able to start treatment right away. It's a tricky situation as there really isn't funding or a big push to research CDG and treatments so I won't get my hopes up that there will be treatments one day. For now we just need to treat the symptoms of the disorder.
The good/bad news is, the spasms/seizures seem to be the worst of his CDG symptoms, so we really only have to focus on those. It sucks that he has seizures that are so hard to control but we're feeling grateful we don't have any other major health issues to tackle right now. So we're just going to be very diligent in finding the right treatment to try and get them under control before they progress into another seizures type. That's really our only hope at the moment. We'll just be aggressive regarding the seizures and keep going with as many therapies as we can afford.
We are able to do Ketogenic diet even though he has CDG because he hasn't shown to have any issues with a variety of foods yet and they think his organs will hold up well with the diet, so that will be our next treatment if this larger dose of Vigab doesn't work. I haven't written it off yet, but we're almost a full 2 weeks into the increased dose and he's still having spasms although yesterday's cluster was so subtle and quick that no one would have noticed if I wasn't sitting and staring right at him. Maybe, just maybe, they're lessening in intensity...but we'll see. Our little guy always surprises us, just when we think he's seizure free, they come back with a vengeance. If Keto doesn't work we'll try ACTH and then move on to 2nd line meds from there. I'm a bit torn as to which to do next (Keto vs ACTH) because when Oliver did have one single shot of ACTH he had a seizure free month immediately following which leads me to believe it just might work. But both the epileptologist and the neuro at Mayo said they would try Keto first as it's got less side effects and higher chance of working than the ACTH. Always hard to make this decision when you feel like you're wasting precious time trying to get the seizures under control, but I am going to have to learn patience in order to live life with a severely delayed baby so this is just the first step.
Trying to understand more about CDG we've been googling and trying to find an explanation that is helpful for people (like us) who are not bio-chemists. My mom found this one and the answer is very basic but understandable:
http://publications.nigms.nih.gov/chemhealth/chemist_freeze.htm
Oliver handled the trip very well, with the exception of an awful non stop cluster of spasms on the car ride up to Minnesota. We had to give him a full clonazepam to get them to settle down but aside from that he has been napping great and generally happy. He is even trying harder to roll over. the past few days he's been on his back and really arching his back and turning his head and upper body. once he coordinates his chubby little leg and gives it one swift kick he is going to roll right over! So maybe in the next few months. Perhaps instead of holding his head up by his first birthday, he'll roll over instead. His therapist has recommended using some of these:
http://www.spioworks.com/
we'll see if the squeezy input from the clothing will help him have better awareness of his body.
Also on my wish list:
a Wingbo swing: http://www.wingbousa.com/
some type of adaptive swing for indoor or outdoor use: http://www.especialneeds.com/tfh-high-backed-swing-seats.html
Wednesday, August 11, 2010
First do no harm
I've been watching this movie recommended by someone on the IS forums. I'm about halfway through and have cried half a dozen times. This particular 9 minute segment really resonated with me: http://www.youtube.com/watch?v=ulds5oWpKKw&NR=1
In this part, the mom loses her mind because the drs have her child on so many medications, some of them to offset the side effects of OTHER medications. Her child is still having seizures despite all of the meds. It's awful to watch but a fairly good depiction of what a parent goes through when your child has a disorder that is not always treatable and the right combo of drugs can be difficult or impossible to find.
you can watch it in it's entirety if you start with first do no harm 1/10.
In this part, the mom loses her mind because the drs have her child on so many medications, some of them to offset the side effects of OTHER medications. Her child is still having seizures despite all of the meds. It's awful to watch but a fairly good depiction of what a parent goes through when your child has a disorder that is not always treatable and the right combo of drugs can be difficult or impossible to find.
you can watch it in it's entirety if you start with first do no harm 1/10.
Thursday, August 5, 2010
Living with Oliver
I am borrowing a little story from the blog of a parent I met through the CDG family network as it describes very well how I feel most days.
She also has a son named Oliver who is affected by CDG. Her little Ollie has come SO far in his 3 years of life and he is a BIG inspiration for me. I look through his photos and videos when I am trying to imagine how it could be possible that my little lumpy blob could someday sit or crawl or even walk with a walker. But I am trying very hard not to give up hope. I just have to keep reminding myself that Oliver CAN reach milestones even if he hasn't yet...and not to count him out yet....and hopefully getting control of the seizures will be our first step toward that.
As you can only imagine, it is very difficult to describe our experience. This writer puts it into a unique and valid perspective.
Welcome to Holland
By Emily Pearl Kingsley
Experiencing a Child’s Disability
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this:
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guidebooks and make your wonderful plans: the Coliseum, the gondolas of Venice, Michelangelo’s David. You may learn some handy phrases in Italian. It’s all very exciting.
After a few months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland!?!” you say. “What do you mean Holland? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. You’ve landed in Holland, and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashing than Italy. But after you’ve been there for a while, and you catch your breath, you look around and you begin to notice that Holland has windmills. Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy, and they’re all bragging about what a wonderful time they have there. And for the rest of your life you will say, “Yes, that’s where I was supposed to go. That’s what I had planned.”
The pain of that will never, ever, ever go away, because the loss of that dream is a very significant loss.
But if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.
She also has a son named Oliver who is affected by CDG. Her little Ollie has come SO far in his 3 years of life and he is a BIG inspiration for me. I look through his photos and videos when I am trying to imagine how it could be possible that my little lumpy blob could someday sit or crawl or even walk with a walker. But I am trying very hard not to give up hope. I just have to keep reminding myself that Oliver CAN reach milestones even if he hasn't yet...and not to count him out yet....and hopefully getting control of the seizures will be our first step toward that.
As you can only imagine, it is very difficult to describe our experience. This writer puts it into a unique and valid perspective.
Welcome to Holland
By Emily Pearl Kingsley
Experiencing a Child’s Disability
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this:
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guidebooks and make your wonderful plans: the Coliseum, the gondolas of Venice, Michelangelo’s David. You may learn some handy phrases in Italian. It’s all very exciting.
After a few months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland!?!” you say. “What do you mean Holland? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. You’ve landed in Holland, and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashing than Italy. But after you’ve been there for a while, and you catch your breath, you look around and you begin to notice that Holland has windmills. Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy, and they’re all bragging about what a wonderful time they have there. And for the rest of your life you will say, “Yes, that’s where I was supposed to go. That’s what I had planned.”
The pain of that will never, ever, ever go away, because the loss of that dream is a very significant loss.
But if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.
Tuesday, August 3, 2010
still having seizures
Oliver has had 3 seizures since his latest Clonazepam drop on Wednesday last week. They are coming every 48 hours and afterwards he screams and cries and is really upset. I think it might be because he is more alert/aware and either upset from the seizure or whatever is stressing him (gas, teeth, a cold, etc) is making him cry like a normal 9 month old baby would. Oh wait, he's 10 months old today, I just realized....I just want time to stand still because it makes me really sad that he will be one year old soon. Still not holding his head up, not rolling, not laughing at us. other babies are crawling, cruising, feeding themselves, drinking from sippy cups. We are still just stuck in newborn mode still. While everything changes around us, Oliver is still stuck in the same spot. He is getting more therapy now, we finally have our PT set up to start this month and he has had two OT sessions now. His private PT found a great little cage/bungee cord setup that allows his neck muscles to be isolated so we are hoping to see some progress there. We just keep pushing on ahead with his therapies despite that fact that his seizures are uncontrolled. Hopefully he can still develop (even if it is slower than molasses) and move forward despite having seizures. We are meeting with an epileptologist on Friday, then we're off to Mayo the following weekend, and then a week or so after that we have a follow-up with our neurologist. Between those 3 dr visits I am hoping we get some plan to move forward regarding his medications and someone has some idea for a way to help him. my worst fear is that even if we COULD stop the seizures, and decrease or eliminate the medication that he will still develop incredibly slowly or not at all, and then we won't have seizures, or hyps, or meds to blame it on. Just the CDG.... scary thoughts.
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