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.
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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!

Permalink | Comments (1) | Aug 9, 2009

One Response to “There Are Too Many Unknowns…”

  1. Michell Says:
    August 12th, 2009 at 12:52 pm

    WOW…I can’t even begin to imagin, and you’re right no one knows how or when or even if the neuro effects will progress. I know you are doing everything you can and it’s yours & Jeffs decision to make. We will be here to support you in whatever choice is made.

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