I Feel So Hopeful & Blessed
Posted by Melissa | Filed under Gaucher Disease, Thoughts From Mom, Updates
When I hear of the heart-breaking things that other parents of children with Gaucher disease are dealing with, I have to count my blessings.
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:
New Pics :-)
Posted by Melissa | Filed under Pictures
Kyle at the end of summer on an outing to feed the ducks, and play on the shore of the beach.
Kyle playing this evening.
It’s Set
Posted by Melissa | Filed under Quick Update
Kyle will be getting surgery for his portacath in a couple of weeks. He is scheduled for an ultra sound, a consult, and pre-admit clinic. Along with his regular bi-weekly treatments, OT and PT appointments, it’s turning out to be a busy month. But his surgery is putting us one step closer to getting in home nursing so Kyle can have his treatments at home.
We also found out that Kyle’s OT and PT want to see him more often because he is making such great progress. So one week he will have a PT appointment, the next week OT, then back to PT, and so on. We are also going to be starting speech therapy in about a month. I met the therapist at his last PT appointment, and she is super nice. I told her I wasn’t sure if she could do anything, because Kyle doesn’t understand things the way a normal 16-month old would. She said, don’t worry, my job is to help him understand. But I’m not sure she understands what I mean, but I really do hope that she can help him.
With therapy every week, it will be so nice to have a home nurse taking care of his infusions so I don’t have to make the long trip for that every other week on top of all his other appointments. It’s not cheap either. Gas to get there and back, $9 for parking, and money for food and drinks for me.
Thankfully that will be a thing of the past soon, and all his other appointments are close to home. Now that we have a second vehicle, finally, I’m also thinking about getting Kyle into the swimming program they have at the center where he gets therapy. I’m going to ask the PT next time I see her to see what she thinks about getting Kyle into the pool, because he really loves water.
So I guess it’s wait and see for the home nursing. Until then I’ll keep making the drive, and hope that the weather doesn’t get too bad before then.
Another Update!
Posted by Melissa | Filed under Uncategorized
We just got back from therapy and the ladies are amazed by how much progress Kyle has made in a month. He’s definitely moved past the 7 month range for his gross motor skills, and has advanced in his fine motor skills. They’ve seen so many things that he is doing now that he wasn’t doing at the last visit.
And because he has made so much progress, they want to see him in 2 weeks instead of 4. We’re going to work on getting him onto fours, and work on standing and walking more. He does get up on all fours, but instead of putting his weight on his hands, he uses his forearms instead. He crawls with moving one leg ahead and then the other, and sometimes he will pull up on his knees and doing a rocking kind of thing. But he loves to walk, and he does it perfectly. He holds my fingers and walks like a pro, and he’s getting faster too.
We’ve found with standing that he can do it, but he doesn’t want to stand still. He likes to be moving, and so gets upset when you hold him in the pelvic area so he can’t move while he’s standing. So we’ll keep working on that for short periods of time. They truly believe that Kyle will be caught up in no time, it’s just a matter of getting him stronger.
I also mentioned to the therapists that Kyle’s neurologist suggested that we start Kyle in speech therapy around the age of 2. They told me that they will put the referral in right away, because they like to start around the 18 month range. They may not be able to do a lot with him, but they can see him, make suggestions to me, and get things rolling in that area. And then by the time he is 2, they can really start to work with him. But the sooner we get moving on that, the better he’ll be.
He says dada and it sounds like he says ma and yes sometimes, and then lots of baby babble. He understands “yes” and “no” and will shake his head no, or move his head up and down for yes. He understands “up” and will sometimes reach a little, so I know he knows what “up”means even if he’s not fully reaching his arms up to me.
I’m positive that Kyle will continue to make great strides in his development, and hopefully he’ll be walking and running by the time his 2nd birthday rolls around.
Update :-)
Posted by Melissa | Filed under Updates
It’s been a long time since I last posted. But I guess sometimes I just don’t have anything to say, so I usually just post when I do.
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.
Do I Dare Hope?
Posted by Melissa | Filed under Gaucher Disease, Research
Article Reprinted from: http://blog.taragana.com/health/2009/09/22/new-method-to-turn-blood-brain-barrier-into-therapy-delivery-system-12334
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)
Another one lost to Gaucher Disease :-(
Posted by Melissa | Filed under Gaucher Disease
This little boy was just 10 when he passed away, so I’m assuming he was a type 3 like Kyle. You can read his story here: http://bit.ly/rg3Cu
It’s official!
Posted by Melissa | Filed under Home Life, Updates
After speaking with 5 doctors who are leading experts on GD type 2 and 3, we’ve decided not to go ahead with the transplant.
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.
My cherished angel
Posted by Melissa | Filed under Pictures
There Are Too Many Unknowns…
Posted by Melissa | Filed under Gaucher Disease, Thoughts From Mom, Treatment
Yes, they have a cord blood match for Kyle. But are we going to do the transplant? Well, in my quest to learn as much as possible before making a life and death decision regarding Kyle, I have to say that as of right now – my answer is no. Here’s why:
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!
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