Game plan

Several of you have been asking, "How do I get tested for bone marrow compatibility?" The short answer is: If you're willing to test and donate upon a match, send me or Cristina your email address, postal address, phone number, blood type (if known) and HLA type (if known). We'll contact you if we need you to test. (We're going to construct a priority-ordering on the probability of a match to avoid over-testing.)

Our rapidly evolving strategy has ranked the experimental treatments according to the likelihood of success:

1. Cord-blood transplant. This works like a bone-marrow transplant, but with the stem cells from umbilical cord blood. One of Bertrand's cousin's cord blood was banked, and has been offered. We don't yet know if he's a match, but with cord blood, it doesn't have to be exact; the risk of rejection is lower; and the chances of Bertrand having a shot at a longer life are higher. Bertrand's own cord blood was saved, but it can't be used because it too contains the genetic defect. If you know anyone that's expecting, please ask them to consider cord-blood banking. It may save Bertrand's life, but it could also save their own life or their child's life or some other person's life. (You can also donate your cord blood to a public cord-blood bank.) New cord-blood-based treatments for all kinds of diseases are being discovered every year, and they're far more potent and risk-free than standard treatments. We banked Bertrand's blood with CBR, and we've been happy with their service.
   
2. Bone-marrow transplant. If Bertrand isn't eligible for a cord-blood transfer, or we can't find a match, we'll try a bone marrow transplant. Bone marrow isn't actually bone. It's a goopy substance inside bones that contains many kinds of adult stem cells. Adult stem cells are not as flexible as umbilical cord stem cells, which are, in turn, not as flexible as embryonic stem cells. As a result, the bone marrow match needs to be exact for there to be any hope of it succeeding.
   
3. Enzyme replacement therapy. About five of the fifty lysosomal storage disorders have an enzyme replacement therapy available requiring weekly injections of the missing enzyme. If Bertrand isn't eligible for a marrow transplant, this may be our only option. These therapies are only temporary, however, since they cannot protect the brain from decay.
   

If it comes down to bone marrow, we've sorted the options by likelihood of finding a match:

1. First, we'll try the national registry.
2. If there's no match on the national registry, we'll ask close and distant family members that have volunteered to test.
   
3. If there's no match among close family members, we'll ask everyone else that has volunteered to test.

If you're fired up and you'd like to test anyway, you can join the national registry. If you join, you may be asked if you'd be willing to donate if you're ever found to be a strong match for someone else. To join the national registry, you can order a cheek-swab kit from them and mail in your sample. After you join, you can request a copy of your HLA tissue-typing report to send to us.

If you wait, we'll be able to provide you with detailed instructions on where to test and what to send us. Of course, we can cover the cost of the lab test too. And, you can choose whether or not to join the national registry.

If you're curious about the marrow-donation process, it's advanced a lot over just the past several years. Thankfully, the majority of donations no longer require surgery. If Bertrand's Doctor were to request surgical donation, it usually involves an incision in your hip or leg under general anesthesia. Regardless of the donation method, most donors are back to work within one to seven days, feel no effects of having donated within three weeks and have fully regenerated the donated marrow within six weeks. So, mostly, you just get a week off work, and you end up saving a life in the process!