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.

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.

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.
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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!

They said priorities are in place, and that I don’t have to worry about Kyle’s treatments. In fact, they have appointments booked right up until September for him. So at that point, they’re going to assess him to decide if his current high dosage can be lowered, or they’re going to keep him where he is now. I am so relieved!

Kyle also had bloodwork done today that is needed to help in the process of finding a bone marrow match. I explained to them how we weren’t really sure if we wanted to do the transplant, and this is what they said:

1) We’ll do the bloodwork and send it off for matching.

2) When we find a match we can meet with the bone marrow transplant team to discuss everything, and then we can make our decision based on that.

3) Doing a cord blood transplant does in fact, have a lower risk as opposed to bone marrow. And, the results can be the same as bone marrow. Which is a potential cure.

So as of right now, they are looking for a bone marrow and cord blood match, and I’m praying for a cord blood match. I think if we do anything, I’d rather do cord blood because of the lowered risk.

I also learned today that they finally know both of Kyle’s mutations, which means that any family members who want to be tested to find out if they are a carrier of Gaucher, can now do so.

And finally, something really strange happened…

Kyle used his eyes perfectly.

He was sitting in his stroller and I was in a chair beside him talking to him, but he was watching the nurse. Well, when she walked from one side of the room to another, he followed her with his eyes from left all the way to the right perfectly until his eye was at the right corner, and then he turned his head, like anyone would do when something goes out of your vision.

Now this may not seem like much. But I was freakin’ amazed! Typically, his eyes would have stayed to the left until he unlocked his gaze by moving his head to continue watching her. To see him use his eyes like he’s supposed to, well, it was so beautiful.

So a lot happened during treatment today, a lot of news, plenty to think about, and best of all, a precious moment

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.

They reason they have to halt production is because the plant in Boston has to be decontaminated due to a virus, so there really isn’t anything anyone can do about it. So this means that the drug is going to be rationed.

Gosh, I hope Kyle is still going to get what he needs.

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…

He had a bottle of formula after getting his blood work and IV line ready to go, then he fell asleep in his stroller. I left him with the nurse to go and get a coffee, and when I got back they had his cerezyme medication hooked up and going into him.

When I saw that, tears flooded my eyes. My baby was finally getting the medication he needed after dealing with the symptoms of Gaucher for the past 7 months. Finally, something was being done to help him.

Kyle slept all morning, even with the nurses disturbing him to check his blood pressure and heart-rate every 15 minutes. The good news is that he didn’t have a reaction, which I’m so thankful for!!

He woke around noon, I fed him lunch, and then put him in the baby carrier to walk around. We ended up spending the next hour walking the halls while I pushed his IV pole. He was as happy as could be

Once mom was tired of walking, we went back to the room and played with toys for awhile. Then he had another bottle, and eventually dozed off again for pretty much the remainder of his treatment time, lol! I was amazed by how well the day went considering we were there for so long.

We head back in for the second round of treatment on the 26th.