Finally, Home Nursing on the Horizon
Posted by Melissa | Filed under Treatment
Ever since Kyle was diagnosed and the idea of home nursing was presented to us as an option, I have been pushing for it. His bi-weekly treatments are something he has to have for the rest of his life, and the older he gets, the more disruptive the long drives and days at the hospital are going to be to his life.
One of the requirements for home nursing was to have a port surgically implanted, something I wasn’t too keen on. Kyle has awesome veins in his hands, so never once, did the nurses at the hospital have a problem getting his IV going. But…because there would only be one nurse coming to the house, another wouldn’t be able to step in to get the IV going if there was ever a problem, and Kyle would miss his treatment. We can’t have that.
So in November we went through all the appointments necessary to proceed with the surgery – the consults, x-rays, etc., and he had his surgery on the 18th. It was one long day. He had his infusion done in the morning, and while he was getting his flush, we went down to get checked in for surgery, and wound up sitting there for 3 hours because they were behind schedule. We didn’t leave the hospital until 8:30 that night, but everything went smoothly with the actual surgery.
The incision healed perfectly, and we haven’t had any trouble with it at all. Here it is on his chest:
It’s really not the big deal I thought it was going to be. They said he can use that port for up to 10 years before it has to be replaced, but I guess only time will tell. The nurses gave me some freezing cream and covers to put on his port, so that when they access it with the IV he won’t feel anything. And I’ve found that I really like it because it frees up both his hands for our time at the hopsital, where before, he couldn’t do anything with his one hand because they had to wrap it all up so he wouldn’t play with it. Now the IV line is out of the way.
Last week, I met with a lady named Donna who informed me that she is the one coordinating the whole process. She said there is a lot of red tape and paperwork to make it happen, but she said she hopes to have the nurse who will care for Kyle at the hospital next Tuesday. That means she will be there to observe everything, from how the Cerezyme is prepared, to using his port, and throughout the entire process. Then hopefully after that, it will be a matter of a couple of weeks.
I just received a fax with the paperwork that needed signing to enroll Kyle in the Cereyzme Home Infusion Program, so it’s been signed and faxed back. So I really hope from here on out things will move pretty quickly.
It’ll be so nice for Kyle to be at home, and comfortable for his treatments, so his life doesn’t have to be more disruptive than it already is.
New Picture
Posted by Melissa | Filed under Pictures
A Much Needed Update
Posted by Melissa | Filed under Home Life, Pictures, Updates
I’ve haven’t been posting much. I guess it’s because we’ve reached a point where we know what we’re dealing with, and I suppose, now we’re just dealing. But I know that my posts here are a way to keep friends and family who care about Kyle updated on how he’s doing, so I’m going to try to post at least once a week.
Kyle is doing really great. He goes to therapy once a week, where he sees his OT or PT, or sometimes both of them together. He also had his speech therapy assessment in early January, and she really believes that because Kyle seems to learn things quickly, doing speech therapy will be beneficial for him.
In fact, I found out that other than talking like he should be at his age, he is communicating in so many other ways and is pretty much on target for his age. He understands when I point and tell him to do something, he can also repeat things back. Such as when daddy growls at him, he’ll growl back (don’t ask me about the whole growling thing, lol, it’s just something they do). He also understands when you hold out your hand and ask him to give you 5, he will. He also knows how to turn his head back and forth to say no, and then up and down to say yes. So he really is more advanced in language than I tend to give him credit for.
He is getting stronger all the time, and is really getting around. Holding onto a toy he can walk all around the room on his knees, and if I put him on his knees in front of the couch he will pull himself up. The biggest issue here with Kyle, is that he is in the habit of throwing his head back because that’s what he did for so long to give him the momentum to move, and as a way to not use his muscles because he didn’t have the strength.
So I came up with the idea of creating a seat for him that would be high enough at the back, to prevent him from doing that. It would help him to relax his entire body while he is sitting, build his strength, and hopefully rid him of the tendency to throw his head back. The Pathways Centre where he has his therapy, has a man there that builds custom seats and other things. So he took my idea and made a brand new seat for him. It costs us $100 to have it made, but it is so worth it.
Old chair (you can see how he has his head tipped back):
New chair: I don’t have a picture of him in it yet, but he cannot tip his head back like in the old one. It’s also adjustable so I can raise the part with the head rest on it up quite a bit higher, so it’s a seat that can be used for quite some time.
He sat in that chair for like 2 hours last night. He’s just so comfortable, it makes me happy knowing he is comfortable and building up his strength at the same time. His tummy has decreased in size by a lot. It is really noticable, so I think that is contributing to his growing strength and mobility too.
I also ordered his mini pacer (gait trainer). Apparently our government will pay for 75% of the costs, and we take care of the rest. It’s still going to be pricy…about $600 that we have to pay. But after putting him in the one at the Pathways Centre where he goes for therapy, and seeing him move all over the place in that thing, I just can’t not get one for him. So Kyle’s PT is sending in the paperwork, which will then go to vendor, who will send it to the government for approval and then we’ll get it. I ordered the blue colour like the one in this picture.
Because it’s adjustable, he can use it for about 2 years. But it changes with his needs. So if he doesn’t need to be in it with the little seat under him, that can be removed. It can eventually be used as just a front or back walker. So as he continues to grow and progress to full out walking, this changes with his needs. It also has a handle that attaches on for a parent to push with. It’s not included, and the government won’t cover that, but I ordered it anyway. I’d like to be able to take him out in the nice weather to walk in it while the kids ride their bikes.
As for eating…well, it’s pretty much the same. Kyle is a picky eater, which is normal in my house. Both my husband and 5 year old son are really picky and tend to eat the same few things. Kyle is the same…thanks daddy, lol!
He eats 2 gerber toddler meals a day. I dump the whole thing, including the vegetables, into a baby food blender and blend it until it’s just a little bit chunky. Then he’ll eat the whole thing, followed by a 7.5 oz jar of strawberries, and 8 oz bottle of soy milk (he can’t tolerate cow milk). I have to spoon feed him all his meals, because he can’t do it himself. Though he will hold a spoon, and a couple of times put a spoonful in his mouth. For breakfast he has an 8 oz bottle of milk, a jar of strawberries and his corn twists. Not exactly an ideal breakfast, but there’s nothing else he will, or can, eat that I can give him.
I’ve also bought so many different types of sippy cups in the hopes that I would find one he likes. He’s not having it. I even bought the one that is a cup with a bottle nipple, and then you can change the nipple two more times until it’s a sippy cup spout. He refuses to drink from a cup.
His snack food is Chester’s corn twists. Probably not the best thing to be giving him, but I’ve tried many healthier options and he just won’t eat it. He either chokes or he doesn’t like it. And I just can’t deny him something he loves to eat because it may not be very healthy. They’re easy for him to eat, he does chew them somewhat, but they also disolve pretty quickly. It also gives him the chance to feed himself.
Right now I am more concerned about getting the food into him, then in how and what he eats. He has a mouth full of teeth, but I find that he doesn’t really chew what’s in there, he just swallows. So I think he’s gotten into a mind-set where to eat, you swallow instead of chew then swallow. But for now, I’m content to leave him be at this point. Once he turns 2, I’ll assess where he’s at and work at making some changes.
Overall, Kyle is doing amazing. He is a happy, sweet little boy and I am so blessed to have him.
I Feel So Hopeful & Blessed
Posted by Melissa | Filed under Gaucher Disease, Thoughts From Mom, Updates
When I hear of the heart-breaking things that other parents of children with Gaucher disease are dealing with, I have to count my blessings.
Kyle has never had, and still doesn’t have any major issues. He is improving in both his gross and fine motor skills. Things he couldn’t do in one therapy session, he is doing the next.
Things Kyle CAN Do at 18-months Old: (off the top of my head)
> Crawl, well a commando crawl, but he is pulling himself up onto pretty much all fours and moving a little ways, and he is doing it more and more everyday
> Sit by himself (though I sit with him because I don’t want him to throw himself), or I put him in his sitter seat we got from his therapists. We’re getting one custom made so it has a higher back which will prevent him from tipping his head back, so he is kinda forced to keep it straight which makes his whole body more relaxed.
This is a picture of him in his current seat, playing school with his big sister 
> He plays with a wide variety of toys: putting things in, taking things out, banging toys together, even starting to colour, picking up tiny objects, pushing buttons to make things go and play music, pushing cars/trucks on the floor.
He’ll open the doorway on this tent and go in, play in there, and then come back through the doorway:
> He is beginning to understand more things we say, like: “Make it go” when we’re playing with his musical toy, he’ll push the button to make it go. Like on this toy:
I’m amazed by how much he is starting to learn, and I believe it’s because I let him figure a lot of things out for himself. He gets a lot of free play time on the floor with toys, he goes from one thing to the next, playing, and learning how to do things on his own.
> He will give you five if you ask him to
> He is becoming more and more verbal, and it sounds as though he is trying to say words. So hopefully his speech therapist can help him make progress there.
I’m not going to focus on the things he can’t do, because that’s pointless. He’s his own little person, and the things he can do are the things that matter. So I’m focusing on how well he is doing, how much progress he is making every day, and I thank God that he is doing so well and we’re continuing to see improvement.
I am hopeful that Kyle will be walking by the time he is 2. In fact, our therapist is ordering a mini pacer for the centre, so we’re going to try it out with Kyle. If he likes it, she can order one for him, and hopefully we can get some funding for it. He is motivated to walk, he knows what to do, but he lacks the strength right now to do it. So I think the way this is made will really help him progress to walking a lot faster.
Here’s what it looks like:
New Pics :-)
Posted by Melissa | Filed under Pictures
Kyle at the end of summer on an outing to feed the ducks, and play on the shore of the beach.
Kyle playing this evening.
It’s Set
Posted by Melissa | Filed under Quick Update
Kyle will be getting surgery for his portacath in a couple of weeks. He is scheduled for an ultra sound, a consult, and pre-admit clinic. Along with his regular bi-weekly treatments, OT and PT appointments, it’s turning out to be a busy month. But his surgery is putting us one step closer to getting in home nursing so Kyle can have his treatments at home.
We also found out that Kyle’s OT and PT want to see him more often because he is making such great progress. So one week he will have a PT appointment, the next week OT, then back to PT, and so on. We are also going to be starting speech therapy in about a month. I met the therapist at his last PT appointment, and she is super nice. I told her I wasn’t sure if she could do anything, because Kyle doesn’t understand things the way a normal 16-month old would. She said, don’t worry, my job is to help him understand. But I’m not sure she understands what I mean, but I really do hope that she can help him.
With therapy every week, it will be so nice to have a home nurse taking care of his infusions so I don’t have to make the long trip for that every other week on top of all his other appointments. It’s not cheap either. Gas to get there and back, $9 for parking, and money for food and drinks for me.
Thankfully that will be a thing of the past soon, and all his other appointments are close to home. Now that we have a second vehicle, finally, I’m also thinking about getting Kyle into the swimming program they have at the center where he gets therapy. I’m going to ask the PT next time I see her to see what she thinks about getting Kyle into the pool, because he really loves water.
So I guess it’s wait and see for the home nursing. Until then I’ll keep making the drive, and hope that the weather doesn’t get too bad before then.
Another Update!
Posted by Melissa | Filed under Uncategorized
We just got back from therapy and the ladies are amazed by how much progress Kyle has made in a month. He’s definitely moved past the 7 month range for his gross motor skills, and has advanced in his fine motor skills. They’ve seen so many things that he is doing now that he wasn’t doing at the last visit.
And because he has made so much progress, they want to see him in 2 weeks instead of 4. We’re going to work on getting him onto fours, and work on standing and walking more. He does get up on all fours, but instead of putting his weight on his hands, he uses his forearms instead. He crawls with moving one leg ahead and then the other, and sometimes he will pull up on his knees and doing a rocking kind of thing. But he loves to walk, and he does it perfectly. He holds my fingers and walks like a pro, and he’s getting faster too.
We’ve found with standing that he can do it, but he doesn’t want to stand still. He likes to be moving, and so gets upset when you hold him in the pelvic area so he can’t move while he’s standing. So we’ll keep working on that for short periods of time. They truly believe that Kyle will be caught up in no time, it’s just a matter of getting him stronger.
I also mentioned to the therapists that Kyle’s neurologist suggested that we start Kyle in speech therapy around the age of 2. They told me that they will put the referral in right away, because they like to start around the 18 month range. They may not be able to do a lot with him, but they can see him, make suggestions to me, and get things rolling in that area. And then by the time he is 2, they can really start to work with him. But the sooner we get moving on that, the better he’ll be.
He says dada and it sounds like he says ma and yes sometimes, and then lots of baby babble. He understands “yes” and “no” and will shake his head no, or move his head up and down for yes. He understands “up” and will sometimes reach a little, so I know he knows what “up”means even if he’s not fully reaching his arms up to me.
I’m positive that Kyle will continue to make great strides in his development, and hopefully he’ll be walking and running by the time his 2nd birthday rolls around.
Update :-)
Posted by Melissa | Filed under Updates
It’s been a long time since I last posted. But I guess sometimes I just don’t have anything to say, so I usually just post when I do.
Kyle had his Occupational and Physiotherapy assessments a month ago. The results showed that he is at 12 months for occupational, which is his fine motor skills – things like comprehension, perceptual-motor integration, motor planning, and motor speed. For Physio he is at 7 months which is his gross motor skills – things like movement of limbs, sitting and standing, walking, balance, etc.
They feel that Kyle will catch up on his gross motor skills fairly quickly. They said because of the enlargement of his organs, his stomach muscles are so weak so he doesn’t have the core muscle strength to help him do things. He’s motivated, he knows what to do, but he doesn’t have the strength to do it. So that is what we’re working on for that.
They said he is at his age for fine motor skills, so that’s a good thing We have another visit with them today to see how things are going. At this time they don’t think Kyle will benefit from regular weekly therapy, because I can work with him at home. Once he has built up his core strength more, they can begin to work with him more often.
On another note…
The process to get Kyle’s bi-weekly treatments moved home is in process. But in order to do that, they want him to get a shunt put in. It sucks because he has such awesome veins in his hand and the nurses have never had any trouble getting his IV started. But a home nurse may not have the same kind of experience with small children that those ladies do, who work with them every day all day. So Kyle’s doctor put in a referral to get a shunt put in. Once that’s done, we can get his home care set up. They said they will ship like a month’s worth of Cerezyme from their pharmacy to the hospital pharmacy here, and I just have to pick it up and keep in the fridge at home.
This will be so wonderful for Kyle. He’ll be able to stay home with his own things while getting treatment. The shunt will allow both his hands to be free, so he can play in his exersaucer or on the floor. It also means, we don’t have to spend 2.5 hours on the road going to and from treatment and I’ve been telling his doctor that it needs to get done before the bad weather comes because I don’t want to be driving on the highway in snow and ice.
We’ll still have to make that drive every 3 months to get bloodwork since our local hospital doesn’t do the kind of testing required, but that’s so much better than every other week.
Kyle is growing and gaining weight, he’s eating really well and thriving. He is a very sweet and loving little boy, and cherished every day.
Do I Dare Hope?
Posted by Melissa | Filed under Gaucher Disease, Research
Article Reprinted from: http://blog.taragana.com/health/2009/09/22/new-method-to-turn-blood-brain-barrier-into-therapy-delivery-system-12334
LONDON – Researchers at University of Iowa have discovered a way to turn the blood brain barrier into a production and delivery system for getting therapeutic molecules directly into brain cells.
Working with animal models of a group of fatal neurological disorders called lysosomal storage diseases, the researchers found that these diseases cause unique and disease-specific alterations to the blood vessels of the blood brain barrier.
The scientists used these distinct alterations to target the brain with gene therapy, which reversed the neurological damage caused by the diseases.
The findings could lead to a new non-invasive approach for treating neurological damage caused by lysosomal storage diseases.
“This is the first time an enzyme delivered through the bloodstream has corrected deficiencies in the brain. This provides a real opportunity to deliver enzyme therapy without surgically entering the brain to treat lysosomal storage diseases,” Nature quoted lead investigator Beverly Davidson as saying.
“In addition, we have discovered that these neurological diseases affect not just the brain cells that we often focus on, but also the blood vessels throughout the brain. We have taken advantage of that finding to delivery gene therapy, but we also can use this knowledge to better understand how the diseases impact other cell types such as neurons,” she added.
Lysosomal storage diseases are caused by deficiencies in enzymes that break down larger molecules. Without these enzymes, the large molecules accumulate inside cells and cause cell damage and destruction.
Enzyme replacement therapy has been successful in treating one form of lysosomal storage disease called Gaucher disease.
However, storage diseases that affect the central nervous system remain untreatable because it has not been possible, to this point, to get the missing enzymes past the blood-brain-barrier and into the brain.
“Our discovery allowed us to test the idea that the brain cells might be able to make use of the reintroduced enzyme to stop or reverse the damage caused by the accumulated materials. In the treated mice, the affected brain cells go back to looking normal, the brain inflammation goes away and the impaired behaviours that these mice have is corrected,” said Davidson.
The study was published in Nature Medicine’s Advance Online Publication (AOP). (ANI)
Another one lost to Gaucher Disease :-(
Posted by Melissa | Filed under Gaucher Disease
This little boy was just 10 when he passed away, so I’m assuming he was a type 3 like Kyle. You can read his story here: http://bit.ly/rg3Cu
Link To Kyle
Donations
- Fresh Nets Web Design | Blog customization donated by Kelly McCausey of Fresh Nets.
Kyle’s Friends
Categories
- Appointments
- Gaucher Disease
- Home Life
- Pictures
- Quick Update
- Research
- Thoughts From Mom
- Treatment
- Uncategorized
- Updates
- Wordless Wednesday