Friday, March 13, 2015


The news we have been waiting for, praying for, and fighting for has arrived. Ezra has responded to the vaccine. His immune system did what it was incapable of doing prior to transplant - he made antibodies to protect himself from infection. And it is a real, good response. For once, we have test results that aren't "so-so" or "unclear." He made a beautiful antibody response, and there's no doubt about it. This is the cure.

Ezra's immune system is in a good place. What is left to be seen is the terrifying part - how he will do in reality, rather than in the Petri dish, when faced with an infection? The other issue is that as long as he has a port in place, he is on a fever "alert" where we must bring him into Sloan at any hour if he develops even a low grade fever. Anyone who has a port or a line is at risk of a very serious blood infection. All fevers must be taken seriously and IV antibiotics administered immediately. Initially, he will also need to come to Sloan for any illness to check his counts, etc. If he does well, with time, those visits should be relaxed.

The other remaining issue is that he is still on a low dose of steroids that need to be weaned and we need to make sure he has no auto-antibody flare up as he is weaned. So for now, we continue with regular clinic visits.

At the end of the visit as we were getting ready to leave, Ezra's doctor told him that he doesn't need to wear his mask anymore. At first he just shrugged his shoulders in a "whatever" way. But when he went to step into the hallway, a huge smile spread across his face, and then he had to tell everyone we passed that he wasn't wearing a mask.

We have to step back and marvel with appreciation that a cure for Ezra's disease was even possible. There have been no protocols and very little experience to guide Ezra's doctors on the best approach for transplanting him - a situation made more complex by his first failed transplant, the degree of mismatch of his donor and then the rare complications he suffered. But his doctors did it. Some of you may recall that Ezra's primary transplant doctor suddenly and sadly passed away shortly before Ezra's second transplant. The entire transplant team embraced Ezra, but one attending took a particular interest in Ezra and became his primary transplant doctor. We are forever grateful to Dr. Susan Prockop who takes devotion to her patients to another level and has been a source of brilliance and guidance through this journey.

We are bursting with gratitude for Ezra's donor - his "special lady," as Ezra calls her. At the one year post-transplant mark, we were permitted to exchange contact information with Ezra's donor. We eagerly filled out the paperwork, but the donor registry has not heard back from the donor. We are not given any further information and do not know if she has changed her contact information or if she just does not want to respond. We have sent her anonymous letters and have told her that whenever she is ready to be in touch, we will welcome her with open arms. It will always feel like there is a hole in our lives without the special lady who we searched for so desperately and who so unselfishly saved our son's life. We will think of her always and hope she knows what a hero she is to a little boy and his family.

It has taken a village to cure our son. From his donor, to the blood and platelet donors who flooded the MSK donor room, to the delicious meals that appeared on a daily basis, to the gifts for Ezra, to the messages, emails, and calls, we have been overwhelmed by the support and love. This journey would have been impossible without all of you.

Now starts what we are considering to be Phase Two of Ezra's recovery: socialization and independence. Ezra has had minimal contact with other children and has never been separated from a caregiver. We are going to go very slowly and carefully with this phase as we did with the medical phase.

This past Sunday we celebrated Ezra's 6th birthday. It was a day of great joy, especially when compared to his 5th birthday, which was spent in the hospital and was one of the worst days of our lives. For the first time, the fear that has overshadowed each of his birthdays has quieted, and we dare to look ahead to a long lifetime of birthdays.

This journey is not quite over. Rather, we are beginning a new, wonderful phase.  We will continue to post updates of hopefully more milestones reached and surpassed.

In the beginning of our journey to cure Ezra, one of the world's experts on Hyper IgM, in recommending that Ezra be transplanted, said to us "do you want him to live with a sword over his head?" This question has always haunted us through this journey, and in particular, has echoed through our heads as we struggled with gut wrenching medical decisions. That ever-present sword has just been thrown to the side. Now all we see above Ezra's head is a sparkling world of potential, adventure, laughter and love.

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.