According to my knowledge, the University of MN is the only place in the country where they are doing trials with GM1 Gangliosidosis and other related disorders. There is one other place in the country that is researching it as well, but they are, at this point, just collecting information.
We will look into the following:
1. Stem Cell Transplant for Evan: Clinical Trial
Evan could be a possible candidate for a stem cell transplant. Dr. Orchard will head up the decision by evaluating Evan, searching for a viable donor and deciding whether or not to recommend a transplant for him. At that point, we will decide what to do.
The transplant has risks of infection and/or rejection. The process begins by killing the cells through chemo-therapy and radiation. The patient is then put into a secure hospital room where the transplant is administered via IV. The child then has to stay in the hospital for two weeks while the new stem cells try to take root in the bone marrow. It takes time for the cells to grow back, during which time, infection is a risk as well as rejection of the transplant.
My understanding at this time, is that they haven't had any success with GM1 patients and they do lose some of the children during this process. Therefore, our purpose in making this trip is to become educated completely about this possibility, so that Brad and I can make the best decision we can for them.
Laya has already done a cheek swab which we sent back to MN, so we will find out if she is a carrier of the disease. If not, she could be a possible donor for Evan. Eli has already had too much damage from the disease for us to hope for any success via transplant.
2. Ongoing study and drug trials Clinical Trial
We will also see another group of doctors to discuss and learn about a clinical trial and treatment using the drug Miglustat along with the Ketogenic diet. Both boys will be assessed by the doctors who head up this study, Dr. Utz and Dr. Whitley along with an Ophthalmologist, Neurologist and Neuro-psychologist. They will be evaluated physically, socially and developmentally. Each boy with have to be put under anesthesia for an MRI of the brain. The spinal pressure will be checked while they are under and Eli's teeth will also be examined.
Evan will have his MRI done on the day we fly home. Hopefully he will be super tired from the anesthesia and just sleep the entire flight. Eli has always conked out for a day after being put under. But we'll see how it goes!
What we hope to get out of this trip - We hope that we can have a clear understanding of their diagnosis, what to expect for the future and be more able to cope with it. Hopefully we will have all the information we need to make good decisions about all treatment options for the boys. I'm sure the Lord will help guide us throughout this process, especially if we rely and trust in him.
You explain things so clearly. Your trip objectives sound good to me. I look forward to reading your next report.
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