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:

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)

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!

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.

When I spoke to one of Kyle’s specialists about physical therapy and the like for Kyle, he said we could look into that if we wanted to, but suggested we just wait and see how treatment does. Typically, he can and will catch up with treatment, but there’s no reason why I can’t help him along.

My sister-in-law works at our local health center, and she told me about a program called Pathways and suggested that I look into it after I mentioned my concerns to her.

Well this morning, I finally did, and I am surprised by how many programs they have available for children with special needs. So I sent an email off to the early years department explaining Kyle’s situation and asking how I go about getting Kyle started in their programs.

I really think he will benefit from Occupational Therapy, Physiotherapy, as well as some of the others. There’s only so much I can do with him, and because I really don’t know what I should be doing to help him make progress, it’s time to find the right people who can.

I will post an update once I hear back from someone

Which is why myself and a few other moms are determined to find something to save our children. We’re working to raise money to pay a research team to work specifically on GD 2/3, and with the help of various Gaucher organizations, we’re going to do just that.

I think of all the children with Gaucher Disease Type 2 and 3 as the “forgotten children”, because they don’t even have a fighting chance. Unlike cancer where they have things that can be used to beat the disease, there is nothing to give the kids with GD 2/3 a fighting chance to beat and survive this disease. Nothing…

And to think that we were so relieved when they told us that Kyle didn’t have cancer last October when he was hospitalized for testing. If I we only knew…

Now as awful as it is for any child to have to suffer through cancer and I don’t wish it on any precious child; an article from the American Cancer Society states that childhood cancers are mostly treatable. In fact, according to a study, 97% of patients achieve complete remission.

So is it any wonder that I wish Kyle’s diagnosis had of been cancer, that he had of been given a 97% survival rate? And because he would have been diagnosed at 3 1/2 months old, they would have caught it so, so early. I mean, by now his treatment could have been done and over with, he could be in remission and living a normal life. 

Instead, he was diagnosed with Gaucher Disease Type 3 with a 0% survival rate.

But imagine if the same funding and research that goes into Cancer, went into rare diseases like GD 2/3. And it’s not only this disease that would benefit from research, but so many other diseases that effect the brain – like Parkinsons, which is linked to GD 2/3 and has so many similar symptoms.

Back to putting together a research team…I’ve already started organizing an online fundraiser to raise money for research, and I’ve been blown away by the response. It’s really starting to snowball as people I know and work with online jump onboard, and tell others.

Which means, I’m formally registering my charity ”Neuronopathic Gaucher Foundation” and 100% of money raised and donated with go directly to research. That way people who donate can claim it on income tax, and the charity won’t have to pay taxes on the money raised.

Carrie Ostrea is working directly with the National Gaucher Foundation in the US to get a formalized research plan and structure together. The concept is to attempt to create an umbrella with all the Gaucher organizations and other related diseases, and get them to work together and create a common point where all the research information is kept updated, and work on finding research that could make a difference for the kids who are here today, still fighting. 

And I’ve been talking to the president at the National Gaucher Foundation of Canada with hopes of getting their help, and I also have an upcoming meeting with a PR gal to work on spreading the word and getting the attention of the media.

I can’t just sit back  and let my sweet little boy die without a fight. No one is going to step up to the plate, and save all these kids who’ve been forgotten because their disease doesn’t effect hundreds of thousands. Does that make it right – to just let all these children die because there aren’t enough of them?

I mean come on, we’re in the 21st century for goodness sakes. They can do open heart surgery on a fetus still inside the mother’s womb, but we can’t find a treatment to kill off the Gaucher cells that live in brains of these children, stealing their lives? If only they could just inject the enzyme replacement therapy directly into their brain…