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!
Busy, Busy, Busy
Posted by Melissa | Filed under Home Life, Pictures
Wow, it’s been awhile since I’ve posted an update. With my 2 older kids out of school for the summer it’s been pretty busy around here, and there’s always so much to do outdoors.
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:
Quick Update: Assessment For OT and PT
Posted by Melissa | Filed under Appointments, Quick Update
Just got word that Kyle will get his assessments for Occupational Therapy and Physiotherapy the third week of July.
I think it’s so awesome that the centre is just a 10 minute drive, and that all of the services are completely free. If we were to find someone outside of the Pathways centre, I know that our insurance would only cover part of the cost. And depending on how often Kyle will need to see these ladies (Mary and Kelly), it could get pretty expensive if we had to pay.
Good News, Info To Chew On, Update, And Something Strange
Posted by Melissa | Filed under Gaucher Disease, Treatment
While Kyle was receiving a treatment today, I received good news today concerning the expected shortage of his treatments come August…Kyle will NOT have to miss any of his treatments.
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
Bone Marrow Transplant Hanging Over Our Heads
Posted by Melissa | Filed under Gaucher Disease, Thoughts From Mom, Treatment
The whole bone marrow process is out of our hands. It’s up to the doctors to make things happen.
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.
Tags: Gaucher Disease, gaucher disease treatment, gaucher disease type 3, gaucher treatment
Oops, forgot to mention…
Posted by Melissa | Filed under Gaucher Disease, Treatment
Yesterday when I posted about Genzyme halting production on the medication that Kyle takes to treat the physical symptoms of his disease, I forgot to mention why…
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.
Tags: gaucher treatment
Genzyme Halts Production – Kyle’s Treatment May Not Be Available
Posted by Melissa | Filed under Uncategorized
I just got word that the company that makes the Cerezyme treatment for Gaucher disease, has halted production in the one and only plant where treatments are made.
According to Genzyme, current inventories of Gaucher disease treatment Cerezyme are not sufficient to meet global demand. The plant will not return to full operation until the end of July, with expected shortages beginning in August and inventories stabilizing by year end.
This is terrible news, and I’m praying that enough Cerezyme was ordered for Kyle so his treatments will not be effected. I emailed Kyle’s doctor in Toronto asking about it, so I’ll post when I hear something.
If his treatments are stopped because of a shortage, we’re going to be back at square one, and my sweet little boy is going to suffer. Without treatment every two weeks, Gaucher cells will continue to build up in his liver, spleen, bones, and other major organs. His platlets will drop and so will his appetite, and he’ll feel awful – again.
Worst case scenario is that shortages begin in August and Kyle’s treatments are halted, which means he may go without treatment for possibly 4 months if inventory stablizes by the end of the year. Which is why I’m praying that there has been enough Cerezyme ordered for Kyle to keep him going for the next few months.
I’ll post an update when I know more.
Tags: gaucher treatment
Time To Get Kyle Some More Help
Posted by Melissa | Filed under Appointments, Gaucher Disease
It’s no secret that Kyle is developmentally behind, and with his first birthday fast approaching, I think it’s time to get him some real help so he can get on track.
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
Tags: Gaucher Disease
Link To Kyle
Donations
- Fresh Nets Web Design | Blog customization donated by Kelly McCausey of Fresh Nets.
Kyle’s Friends
Categories
- Appointments
- Gaucher Disease
- Home Life
- Pictures
- Quick Update
- Research
- Thoughts From Mom
- Treatment
- Uncategorized
- Updates
- Wordless Wednesday