Sunday, March 1, 2015

One Part of the Cure

We happily received some good news this week. The specific type of Hyper IgM Syndrome that Ezra has is called X-linked CD40 Ligand Deficiency. CD40 Ligand is a little protein found on the surface of T cells. It is responsible for communicating with B cells and instructing the B cells to make antibodies, as well as signaling other cells of the immune system to take action when an infection is detected. Ezra had a "complete absence" of CD40 Ligand on his T cells when he was diagnosed. Some patients with CD40 Ligand Deficiency have CD40 Ligand present on their cells, but it doesn't function properly. Some doctors believe that the absence of CD40 Ligand as in Ezra's case is a more "severe" form of the disease. A little protein that causes a big mess of you don't have it. 

We tested Ezra's CD40 Ligand for the first time since his second transplant. We have the results from the first part of the test, which looks at whether the T cells have CD40 Ligand and whether it increases when stimulated. Ezra now has CD40 Ligand on his T cells! The numbers are below normal, but not too bad. His doctor thinks his immune system needs more time to fully mature, but she does think that the current level is protective - provided the CD40 Ligand functions properly. 

The second part of the test, which measures the function of the CD40 Ligand, is not back yet. We hope to have the results in the next few weeks. The function may not fully be there because unfortunately, Ezra's IgG decreased again last month and is pretty low. It isn't so helpful to have CD40 Ligand and for it to not function. But first things first - you have to have it for it to function. Ezra now has CD40 Ligand and that's a beautiful thing. 

This good news came on the one year anniversary of when Ezra developed the very harmful auto-antibodies, the ramifications of which he is still dealing. Looking at the lab report brought us back to September 2009, when Ezra's usually cheerful pediatrician suddenly was not so cheerful as she handed me the results of this same test. I comprehended only a few words from the cover letter from the lab - a diagnosis of Hyper IgM and a referral for transplant. The rest blurred together in a fog of devastation. Then I looked at my smiling baby boy, and that was the moment when I knew that Ezra would no longer see our tears or anguish. He would know as much joy as we could provide, and we would carry him through the unavoidable suffering with laughter and love. 

One part of the cure is checked off the list. We have no idea if he will pass the function test, and it still remains to be seen if he can make antibodies in response to a vaccine, which needs to happen to know he is safe. Next week, Ezra unbelievably turns 6 years old, which also means we've been fighting Hyper IgM for 5 years and 8 months. At this point, we are just happy to know that there is some forward movement and that Ezra's new immune system is still a work in progress.