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:

I contacted 4 of the best doctors in the world on Gaucher Disease asking them about Kyle and doing a cord blood transplant. I’ve heard back from 2 of them, and here’s what they said:

First is Dr. Raphael Schiffmann, M.D., M.H.Sc. and you can learn more about him here:

http://www.childrensgaucher.org/research/scienadvisory/raphael.htm
http://www.baylorhealth.edu/imd/staff/schiffmann.htm

This is what he had to say regarding transplants on children with Gaucher Disease Type 3:

“…cord blood transplantation can only correct the non-neurologic manifestations of the disease. It has no effect on the brain problem. Therefore, it is not used anymore since at least in type 3 it does not provide an advantage beyond enzyme replacement therapy. The mutations often do not predict the difficulties of the patient with Gaucher disease. This is all I can say at this point. I will be happy to speak with his doctors as needed.”

“…Sure there are mild type 3 patients who do well long term when the transplant corrected the non-neurological aspects. So you can see the transplant (if successful because it does not always take and there is significant morbidity and mortality still nowadays) as equivalent to enzyme replacement. Type 3 patients (and I have dozens of them) can live a very long time with enzyme replacement because their neurological problems are by their nature non-progressive. When they have a progressive form of the neurological disease, neither transplant nor enzyme help. Again, these are general comments and facts that have to be interpreted in view of the particular situation of your son.”

When I asked how many transplants had been done on GD3 children, this is his response:

“Not too many. I know of 6 patients so probably not more than twice that in total. The results are no different than ERT. One does not need many to see that it only cures the systemic disease if engraftment is good. If any of the physicians has any questions he/she is welcome to contact me.”

Next is Dr. Gregory A. Grabowski, M.D. and you can learn more about him here:

http://www.childrensgaucher.org/research/scienadvisory/gregorygrabowski.htm
http://www.cincinnatichildrens.org/svc/find-professional/g/gregory-grabowski.htm

This is what he had to say regarding transplants on children with Gaucher Disease Type 3:

The direct issue for a hematopoietic stem cell transplant is if there is any evidence that such a procedure would significantly alter the CNS/Brain course in Kyle. Review of the literature of such transplants (mostly with non-cord stem cells) are very mixed and difficult to interpret. A few case reports from Sweden suggest that there can be some effect in one patient, but not in another (the mutations are L444P/L444P).

My own experience with a young Hispanic child without any CNS signs prior to transplant and who had an uncomplicated transplant developed CNS findings (eye findings) about 3 years after the transplant. Unfortunately, we did not have long-term follow up since she passed from an non-Gaucher disease related event about 4 years after the transplant. However, we did show that there was no evidence of Gaucher disease in any tissue outside of the brain.
==================

So you can see my problem. I’ve got two the world’s best doctors…

Dr. Schiffmann – who has established himself as an international authority in Gaucher disease research.

Dr. Grabowski is one of the foremost world-wide authorities on Gaucher disease.

…saying that a transplant is not going to halt disease progression in Kyle. All it will do is correct the physical aspects of his disease, and come on, his Enzyme Replacement Therapy (Cerezyme) is already doing that. So they’re basically saying “take your pick: transplant or Cereyme” because they’ll both do the same thing for Kyle.

So I have to wonder, why are Kyle’s doctors pushing for a transplant? Why have they come to the conclusion that Kyle’s disease may be halted with a transplant? The doctors in Toronto at Sick Kids told us of 2 cases of children with GD 3 they’ve done transplants on. One was a little girl, who obviously has a mild form of Type 3 since she was 9 years old before any neuro signs showed up, they did the transplant, and it was successful and she is now 18. However, they don’t say that she no longer has neuro problems.  The second case was of a little boy who had a successful transplant yes, but then died of disease progression. So the transplant did not do anything for him.

And, to top it all off – I’ve recently spoken with a 26 year old woman who has type 3 Gaucher Disease. She has beaten all the odds, she is a damn miracle. She also told me that once she started ERT (Cerezyme) treatment, her neuro problems never progressed. Yes, she does have some neuro problems because she didn’t start treatment right away because it wasn’t available until the 90’s I believe.

But you know, why can’t that be Kyle? He started treatment at around 10 months old. And the thing is, it doesn’t really matter what Kyle’s mutations are, because they said those cannot predict disease progression. If there’s one thing I’ve learned, it’s that every single child with Type 2 and 3 Gaucher disease progresses differently. Some children with type 2 live well past the age of 2 (which is when they’ve determined that children with GD2 die – age 2), and others pass much earlier.

As the post title says, “There are too many unknowns”  for me to say, yes, let’s do the transplant. I need more than “we hope the transplant will stop disease progression in Kyle.”

Sure, it means the government won’t have to fork out the money for his Cerezyme, if he has a successful transplant and it cures all of the physical symptoms. But the risks for doing a transplant that is only going to give us that in return – no bi-weekly treatments – is completely pointless in my book. Why in hell would I put my child through 2 weeks of high-dose chemo to completely destroy his immune system, do the “high risk” transplant, put him through all of that, put his life at risk – when it isn’t going to do him a lick of good in the long run. That is absolutely insane!

I know that we’re likely going to lose him to this disease anyway, but you know what, no one knows that for sure. Just like no one ever imagined that 26 years ago the little girl with Gaucher Disease Type 3 would live as long as she has, that her neuro would never get any worse. So I am not going to let ANYONE tell me that my child will only live until the age of 10 – they can shove that where the sun don’t shine because they have no freakin’ idea how his disease will progress.

So as of right now, my answer to doing a transplant is a big, fat NO! So until they can give me evidence saying they have a strong reason to believe that Kyle’s (when according the world’s best Gaucher doctors  – one who is neck deep in the research aspect of it – says it won’t stop) disease progression will halt. But crap, I’ve read stories where it does that anyway once they start treatment. Because the treatment gets rid of all that crap, so it doesn’t have a chance to build up and get to his brain.

So all in all, they have to be completely out of their minds to think that I’m going to let my baby be the guinea pig because they “hope” it will halt the progression of his disease. I don’t think so!

But that doesn’t really stop people from asking us about what’s going on with the whole thing. And to be completely honest, ever since we found out our other son was not a match for Kyle, we’ve been hesitant about the whole thing.

To be honest, I know in my heart that if we proceed with the transplant we’re going to lose him. The odds just aren’t good that he’s going to survive it, let alone actually be cured from it.

It would be a little different if they told us that by doing the transplant, he has like a 95% chance of being cured of his disease. But they can’t say that. They have no numbers to give us. Heck, even if he does survive the grueling transplant, it may not do a damn thing. He disease could remain completely unchanged.

This is why the whole thing is so very hard for us to decide. People keep wondering when it’s going to happen, why we’re waiting, saying they would do it right away…but until it’s your baby’s life that you hold in your hands, you have no idea what it feels like to be in our place.

You have no idea what it feels like to know with all your heart that if you go through with it, you’re going to regret it for the rest of your life. Because that’s how I feel. I know if we do it, we’ll be saying goodbye to Kyle.

Yes, we’ll likely have to do it someday in the next few years, but not today. Maybe if we’re lucky, not ever.

But I cannot kiss my happy, growing, developing, sweet little boy goodbye right now. I cannot put him through chemotherapy and make him so very sick, and then put him through a transplant that has little to no chance of working.

I can’t do it right now. I don’t want to do it right now.

Kyle has always been an easy, happy baby, but since he started treatment there’s an even deeper contentment. It’s hard to explain this change. But from what adults who suffer from GD Type 1 (the non-neuronopathic type) have said, they felt awful before treatment.

Kyle isn’t able to put the way he feels into words, so you don’t ever really know how awful he feels. And the thing is, he’s been suffering from the effects of this disease since he was like 3 months old, so he doesn’t know that you can feel any different. Living with this, is all he knows, so he deals with it.

But now that he is getting treatment for the physical aspects of his disease, he’s finally feeling the way he’s supposed to feel, and it shows.

His development has been progressing too. Where he couldn’t really crawl before, he’s getting around using his knees and arms. And what I never noticed until after his treatment, was that the size of his belly was actually preventing him from keeping his knees on the floor. Now that his belly is smaller, it’s easier for him to use his knees to get going.

His appetite has increased, and I can see his face filling out. Just the other day he ate 3/4 of a 7.5 oz jar of strawberries, and then 10 minutes later he polished off an 8 oz bottle. I couldn’t believe it! And I’ve noticed that for the past couple of nights he’s been drinking 8 oz of milk, as opposed to the usual 4-6 he usually drinks at one time. This is great news!

I’m working on getting him to eat more foods. We’ve done toast with butter, and though he can pick it up and take a bite, his bites are too big…so I break off small pieces and put them in his mouth and he eats them. He’s still a stinker about what baby foods he’ll eat. He only likes strawberries and blueberries, but I can’t really blame him because most of the food taste like crap, lol!

He’s also talking more. More baby babble and plenty of “dadada”. I’ll even ask him where “dadada” is, and he’ll look around to find him, and when he does, he breaks out into the mother of all smiles. There’s a new light in his eyes that wasn’t there before. It’s like he finally feels well enough to really live.

You know that awful feeling you have with the flu, and you just don’t want to do anything but lay around and sleep…now imagine if you felt that way 24/7. That’s kinda like how all these kids with Gaucher Disease Type 2 and 3 feel without treatment; they adapt and deal with is so well because it’s all they know, so it’s hard for anyone to really know there’s anything wrong with them.

I can’t believe that Tuesday Kyle goes in for his second round of treatment, already. The time flew by, and I’m glad for that. I truly believe that his first session has already caused changes in his body, and it’s not just a mother’s wishful thinking either. Others who don’t see Kyle on a daily basis have noticed a difference.

Just 5 days after his first treatment, I noticed that his tummy is smaller and softer. I am amazed!! So I’m hoping for more results after this next round of treatment.

As mentioned earlier today, Kyle received his first Cerezyme treatment yesterday and it was such a good thing. I am so happy that he is finally getting the medication his body so desperately needs to begin healing the physical symptoms of this disease (except, sadly, his neuro issues), but, of course, with this good moment we got a bad one.

One of Kyle’s doctors stopped by during treatment to speak with me and see how Kyle was doing. Unfortunately, she gave me the bad news that none of us, his brother included, is a bone marrow match for him. My heart broke even more…before long, I’m not going to have heart left…

If there’s good news, there’s bad…at least that’s what it feels like. And you know, now that we know our other son is not a match for Kyle, we’re not so sure we want to go through with the transplant. Kyle’s best chance was through a sibling donor because it lowered the risk of rejection, but now that this isn’t going to happen, I’m having doubts.

We were ready to take this huge medical leap and put Kyle’s life into the hands of doctors to let them do a very risky procedure, all without a guarantee that this was going to do anything for his disease.

They can’t tell us that by doing the transplant that it will put a stop to, or reverse his neurological effects (which at this point is just his rapid eye movement, or lack of), in fact, they can’t really promise anything.

But because we were so hopeful that Kyle’s brother would be a match for him, we were willing to take that chance because we believed that giving him back a healthy genetic make-up that is as close to his current DNA as possible, was his best shot.

Or course, a sibling match just couldn’t happen for us could it? Why not pile another crappy thing onto the pile of crappy things Kyle and this family has been subjected to for the last 7 months?

Why the hell can’t something go our way for a change? Why do we have to give back our baby when we just got him?

I’m terrified that we’ll do the transplant and he won’t make it. That we’ll lose him long before we have to.

Because maybe we don’t have to lose him at all. With all the research being done, maybe a treatment or cure will come sooner then expected and Kyle will be saved. Maybe he’ll be the kid who lives well into adulthood, enough time for them to find a cure.

Considering Dr. Oz was on Oprah (with Michael J. Fox as a guest) a couple of months ago saying that they WILL be able to use stem cells to cure diseases like Parkinsons by injecting the stem cells directly into the brain where it’s needed. And get this, he said this will happen in less then 10 years…so I mean, 2 years from now this could be a reality.

But that’s the thing, we just don’t know. We don’t know, no one knows what will happen in the next few years. No one knows how fast Kyle’s disease will progress, no one knows how long Kyle has left – though they gave him 10 years at most with enzyme replacement therapy – nobody knows a damn thing and that’s the worst thing of all.

Not knowing…