It turned out to be a busy day. The home nurse, her manager, the co-ordinator at the hospital, the genetic counsellor, Kyle’s genetics doctor, and a regular hospital nurse, were in and out our room all day, but things are finally coming together.

Apparently, we are waiting on the paperwork to be completed through Genzyme (the company that makes the Cerezyme treatment) because they are paying for Kyle’s home nursing. I had no idea that they would be covering the costs, I just assumed that our government (here in Canada) was paying for it.

So now we’re just waiting on paperwork, and for everyone to get all the plans in place. The Cerezyme will have to be shipped to our local hospital for pick-up, and then I will keep it in our fridge here at home.

We’re scheduled to go back to the hospital next Tuesday, and I really hope that it will be our last trip there for awhile. We do have to make the long drive every 3 months for blood work (that can’t be done at our local hospital) and a check-up with Kyle’s genetics doctor. But really, that’s only 4 trips to the hospital per year, a lot better than the current 2 per month.

I’m also working to arrange his therapy so that it amounts to one day a week. So we’ll go once a week and for 30 minutes of speech therapy, and then go from there to either Physio Therapy or Occupational Therapy for 45 minutes to an hour. PT and OT alternate weeks, so we see one or the other each week (though we frequently see them both together). It all seems much more manageable now. Therapy once a week and treatment at home every other week.

My goal is to ensure that Kyle is happy and comfortable, and I’ve always been adamant about not letting his disease take over his life. He’s a sweet little boy who deserves the best quality of life I can give him; and to me that means factoring in his disease around his life, not the other way around.

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.

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.

But just a bit of news before I post some pictures of Kyle…

We might have a cord blood match for Kyle. Which was really hard news to hear. On the one hand, it’s really an incredible thing. On the other, it means I can’t keep living in denial that Kyle’s just fine.

He’s not.

His disease will continue to progress, and the only chance we have to save him is with a transplant. Doing a cord blood is less risky than bone marrow, and the potential for success is the same. If they’re going to do one, they want to do it while he’s under the age of 2 and because he is doing so well right now. His disease hasn’t shown up in any way other then a slightly funny thing he does with his eyes, the fact that his growth has been stunted and his development is behind.

But now that he is on regular treatment, and essentially getting 2 treatments for every 1 since his dose is double, his growth and development have already improved. His appetite, his mobility, a lot of things have been improving.

So we have a tough decision ahead of us about whether or not to do the transplant. In the meantime, we’re waiting to hear from the transplant team to set up a meeting. Then we’ll make the trip to talk everything over with them, and then make our decision after that.

In the meantime, I’m going to continue enjoying each day with my sweet little boy. Like the fun we had tonight while I was feeding him. Every time I put in a spoonful of food, he would say “mmm”, and then I would copy him and he would laugh his little butt off. I got some good shots of him eating and laughing. You’ll notice the chunky food he’s now eating, and lots of it too – and then he still gets up at night to drink at least 4 bottles of formula. His face and legs are starting to get chunky, his arms are still pretty skinny, but we’re working on it

Here are 3 pictures:

So when I say that he is 10-months old, you can see the surprise and question in their eyes. So the next question that naturally follows is, “Was he a preemie?” When I say no, then they’re really confused.

They’re wondering why he’s so little, why he doesn’t have the chubbiness of other babies, and why he doesn’t seem to like other 10-month old babies they know.

It’s frustrating and heart-breaking for me. God how I wish that he was just like every other baby. There’s not a day that doesn’t go by that I wonder why he can’t be like every other baby. Why does he have to suffer? Why can’t we be like every other family dragging their 3 healthy kids around, dealing with normal parenting issues? Why do we have to wonder how many days he has left with us?

It’s hard to believe that he’s going to be a year old on June 27th. His disease has delayed so many things that are normal for other babies.

He can’t crawl. Though he tries his hardest, pulling his legs up onto his knees and moving himself just far enough to grasp that toy out of reach.

He can’t pull himself up on furniture, toddling from one thing to the next.

He can’t pull himself up in his crib to greet me each morning. In fact, his crib is still at the highest level made for newborns.

He can’t get into a sitting position on his own.

He has trouble balancing himself when he sits in a shopping cart, so we always try to get the cart with the baby seat attached.

Because he lacks rapid eye movement, he can’t watch his brother and sister race by him just by moving his eyes back and forth quickly. He has to turn his entire head to see something. He can’t just look at me when he hears me talking to him, he has to turn his entire head and focus on me.

All the things he can’t do like other babies breaks my heart everyday. God, how I wish he could just be normal!

I try not to think of it, I try to just focus on all the things he can do. But it’s hard when you see the confusion on the faces of those who ask how old my baby is. Hard when you see other healthy babies, in all their chubby glory.

But Kyle can also:

Roll all over the floor from one place to another. He did this right on target for his age.

Laughs and smiles.

Respond to those who talk to him.

Play with toys in his exersaucer.

He can sit up on his own. Though I do have to sit with him because after awhile of sitting he’ll just throw himself back. And I think it’s because with his big tummy, the pressure of it pushing everything up into his lungs gets to be too much, so he throws himself back to relieve the pressure.

He can jump in his jolly jumper.

He can hold his own bottle.

He can eat baby food like strawberries, blueberries, cereal. And now he loves the Primo chicken and vegetable soup when I blend it up like baby food. He loves cheezies and baby cookies.

So I try to remember all the things he can do. He’s my sweet cherished angel, and I love him with all my heart and soul.

I pray that God doesn’t take him home too soon…

He sleeps more than the usual baby because his lowered blood counts make him more tired. He also doesn’t eat as much as a normal 10-month old baby does. His main source of food is still formula. He’ll have at least 3 bottles through the night and another shortly after waking. Then a little while later he’ll have breakfast, either cereal or fruit.

I worry because his arms and legs are so skinny. He’s missing the usual baby chubbiness that my other 2 children had. His spleen and liver are so big that they’re cramming everything else inside his tummy, which causes him to feel full after eating a small amount. He does drink 5-6 oz of formula every 2-3 hours during the day, but when he has solids for breakfast, lunch, and dinner, it’s only about a small jar of baby food.

Gosh, my other 2 were eating big jars of baby food and full bottles by this age, as well as a variety of table foods. Oh, I wish they would hurry up and start enzyme replacement therapy (ERT). ERT takes care of all the other symptoms of Gaucher Disease – it’s just not capable of crossing the blood-brain barrier to get rid of Gaucher cells there, so it doesn’t help the neurologic effects of this disease.

But the ERT treatment will eventually return his spleen and liver to normal size so he can eat normal, and breathe normal. He breathes really quick and shallow because his lungs don’t have room to expand to full capacity. Oh, how my heart breaks with all that he has to deal with on a daily basis.

We’re supposed to hear something this week about when we’ll be starting treatment. It costs thousands of dollars per treatment, so it has to be approved by our government, which means a lot of red tape to get through before approval. It certainly won’t be fun for him because it means an hour drive to the hospital every 2 weeks, then he has to have an IV in for at least 2 hours, but it will be worth it knowing that it’s helping.

I’m praying today that we’ll hear that our 4-year old son is a bone marrow match for Kyle – it’s his best chance of not rejecting the transplant. Please God let something go our way for a change!