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.

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:

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.

It sucks that now there’s isn’t any hope of a miracle cure like we were led to believe a transplant could be. But apparently they’ve never seen anyone with the 2 mutations that Kyle has, so they didn’t really know how having the transplant would go in his case. And I just found out that Kyle’s doctor had two type 3 patients who underwent the transplant, and neither of them had their neuro problems stopped…and she couldn’t have told us this months ago?

I have anger over how the doctors handled this. Everything should have been laid on the table from the very beginning instead of stringing us along on “hope” that is non-existant. If they had of told us back in April that roughly 24 gaucher patients with type 3 have had transplants, but not a single one of them had their neuro issues halted – it wouldn’t have even been an option. Why put a child through something like that if the outcome is going to be the same as getting bi-weekly Cerezyme treatment?

So what next?

Because Kyle is going to need bi-weekly treatments for the rest of his life, and it’s an hour and 15 minute drive one way to take him to the hospital, I asked about getting his treatments moved to Sarnia. And the good news is that they are currently looking for a pediatric nurse to come to our house to give Kyle his treatments, and it won’t cost us anything.

On the other hand, if they can’t find a pediatric nurse, Kyle may have to have a portacath put in. Kyle has awesome veins in his hands, and they slip the IV in one quick shot each and every time, so getting a portacath isn’t necessary. But if they can’t find a nurse who is used to working with children, she may not be able to do the IV – so a portacath it will be (it’s basically an access they put in his chest so they plug the line in there, and will have to be done surgically).

So I’m praying we’ll get someone who is comfortable doing the IV’s, at least for the time being.

Then we’ve got a day set up to get his OT and PT assessment, since it was put on hold with a pending transplant, so hopefully we can get him rolling with that through Pathways. I also discovered that Pathways has what they call respite services. Here’s what their website says:

“Respite Services – This program is primarily geared to infants birth – 2 years of age. The worker provides the primary caregiver relief once a week for a 4 hour time span. The special needs child and siblings in the home during this time become the responsibility of the worker.

So I’m going to look into that as well. Because I tell you, sometimes I am exhausted. It’s not easy having a 14 month old child who is more like a 6 month old – they can’t quite do anything. Though Kyle is pulling himself into a full hands and knees position on the floor. Right now he pulls the knee up and pushes with his foot and pulls with his arms to get where he wants to go. So he does make his way around.

But still, he’s like a baby who’s not growing up. He should be running all over the place, playing on the grass with his brother and sister, or toddling through the house in footie jammies. Instead, at 14 months old he’s still stuck in his exersaucer watching everyone else have fun. It’s incredibly heart-breaking, but I’m determined to get him going.

They have no idea how someone with Kyle’s mutations will progress, so for all they know, he could live well into adulthood – they can’t tell me otherwise. So we’ll just take it day by day and keep praying that he gets his miracle.

When asked if I had any other questions, I asked her if the HLA typing results had come in yet for the bone marrow transplant match. Unfortunately, they haven’t, so we’ll have to hang tight and keep praying that Jason (Kyle’s 4-year old brother) is a match.

But I did forget to ask about the results for the hearing/brainwave test they did last Thursday. His hearing is perfect, they know that already, but what they want to know his how his brain is processing. So I’ll have to be sure to ask about it when they call to set up his first treatment appointment.

But the day went by without a phone call, and now I’m worried that none of us are a match so they didn’t bother to call. For some reason a phone call from those people seems to be too much to ask. Whenever I call their office to get an update, I never get a call back and then they wonder why I keep talking to the doctors in Toronto.

To be honest, I don’t like the doctors in London. I feel as though we don’t really matter, that we’re not doctors so we don’t need to be kept in the loop until decisions are made. But I don’t care if you don’t know what’s going on yet, or you don’t have answers, at least have the decency to tell me that so I don’t wonder and worry.

Whatever happened to the bedside manner of the old days?

Read Kyle’s Story

Find out what Gaucher Disease is.

Please check back soon. I will updating this blog on a regular basis.