Well, finally met with Dr. Orchard, who runs the clinical trial that Armand would participate in should we do the bone marrow transplant. For those who are medical-jargon-inclined, there is a link in the ‘Information’ section of this blog describing what they are going for. For the rest of us, a summary:
Dr. Orchard would be performing a specialized kind of bone marrow transplant (BMT) that would use either blood from an adult donor who is a match, or from umbilical cord blood that has been donated and is a match. The trial will use a different kind of drug during the chemotherapy that is less neuroligically toxic and agressive, because of the already existing trauma to the brain from the disorders studied. The trial is specifically aimed at a few kinds of leukodystrophies, but they were taking children with other gentic disorders, including GM1.
The good news that we have recieved so far is that Dr. Orchard took a look at his MRI, which we had only heard about but not gotten much information on. He said that yes, there were some white matter (myelin) issues, but not very much. We hadn’t heard the extent of his hypomyelination from Dr. Collins in Cincinnati, so, to some extent, this was mildy reassuring. We also finally got confirmation that nothing major showed up on Armand’s EKG and echocardiogram — one mild valve issue that Dr. Orchard said wouldn’t present much of a problem. Armand’s physical characteristics also seem to be in order: no major issues with his liver, spleen, teeth, bones, or similar problems that typically show up in severe GM1 cases.
The bad news is that Dr. Orchard confirmed a few of our fears: that there is little to no evidence that a bone marrow transplant alone would do much to help Armand from a treatment standpoint, but a major issue is lack of data — in fact, none of the patients they’ve had in the nearly 5 years of this trial have been GM1 patients. He also brought up a new issue that if we slow down the progression of Armand’s disorder, that it would slow the slope of decline, in such a way that it may “string things out” for him, possibly making it more painful to watch (or, really, more painful to go through). The worst issue we’ve come across so far is that BMT of this sort have around a 10% mortality rate, meaning we may bring him back here to Minnesota in a few months, and he might not come home.
Our best hope so far comes from a multi-pronged attack, as well as wait-and-see on some other research. Getting the bone marrow transplant, if he grafts without complication and is able to recover, would essentially try to get some of these stem cells into the brain where they would take hold and, being without the genetic defect, begin producing the enzyme that Armand lacks. The hope is that it would produced enough to stem the tide of the lipid that he is storing. Once he is strong enough, we would begin the AIM therapy with the anti-inflammatory drugs as well as the drug miglustat, which has only been approved for a different disorder. I’ll make a seperate post on how this would work for Armand. Again, this hasn’t even begun clinical human trials yet, is highly experiemental, would work in theory, but there is almost no data at all on it. A total shot in the dark.
From there, we hope and pray that these two things together would slow down or even stop the progression enough for research to come up with a cure from a different angle — one is gene replacement therapy, in which they would attempt to essentially insert a healthy version of his defective gene into his cells; the other is chemical chaperone therapy, which is too complicated for this particular blog to explain. Both of these have shown promise in mice, however there is not strong enough evidence and the costs are currently too great for effectiveness in humans just yet. Time will tell, and what we need (and don’t currently have) is time.
We have made no decisions as of yet. We will be getting yet another blood sample, probably tomorow morning, to test for a donor match, but this will not lock us in for BMT. We need to talk, and talk, and cry, and talk some more, especially with nuclear family. We’re faced with a possible damned if you do, damned if you don’t situation, a lot of what if’s, and no real light on any path we may choose. I suck at deciding what I want to eat most nights, and now I have to decide the fate of my son.
Armand took the news well, however: wearing little else but a diaper and some Oreo cookie crumbs. He also made a new friend.