Days of Wonder and Awe

It has been a while since we shared a full update. The past two months since our last update have been full of miraculous new experiences and milestones. For those of you who do not follow Ezra's Facebook page, Ezra started kindergarten three weeks ago! He has been attending on a part time basis three days a week and doing really well adjusting to being in a class with other children - better than we would have ever imagined. Unfortunately, the school year is ending this week. We have treasured each precious day. There were many moments when we thought that Ezra would never make it to school. Getting Ezra healthy enough to attend kindergarten was always one of our goals in making decisions about Ezra's medical treatment. I remember crying in the hallway to Ezra's doctor and nurse after a setback last June when it became clear that he was not going to make it to school in September. His doctor said, "September may be out, but he may make it to school at some point this year." It hurt too much to believe her then, but happily her forecast came true. There are no words to fully capture how we feel about Ezra being school. We shared some of our thoughts and great pictures of Ezra's first school experiences on his Facebook page at www.facebook.com/help4ezra (you don't need to be on FB to view them).

Medically, Ezra's counts have been rock solid, which is so wonderful. He is dealing with a couple of issues that are side effects of his transplant and treatments. His skin has had dry, irritated patches the past few months. We have been using a combination of steroidal creams, which are thankfully working.  Ezra's doctor thinks that he likely has a very, very, very, very mild form of Graft Versus Host Disease. We can't even think about those words without feeling panicky, but what is important is that his skin is responding to the creams and there is no need for oral steroids. When Ezra had GVHD, his skin was not responding to creams and required high dose steroids. This is not that situation at all.

The other issue relates to Ezra's eyes. We've known for a while that he has dry eyes from the high dose chemotherapy and transplant, and his eyes have also become increasingly sensitive. Ezra is at risk for cataracts and other eye issues from treatment. He has been seeing the eye doctor regularly, but we will soon be seeing a specialist ophthalmologist just to be sure there aren't any problems requiring further treatment.

Given all Ezra has been through, these are minor issues and ones we will gladly take in exchange for a working immune system and the wonder that comes with good health. We have started another round of vaccines. Ezra's titers will be checked in a couple of months to make sure that he has been able to respond to this next set of vaccines. He still has many vaccines to go before he is fully caught up, and that is not likely to happen until some time next year. Ezra is still very much struggling with the shots. The experts at Sloan are telling us that the way he is reacting and his perception of pain is common among children who have been under treatment for a long time, and especially those who have been under treatment since infancy. We are trying to think creatively to find ways to make the vaccine process less traumatizing.

The one piece of disappointing news is that Ezra's port will not be removed anytime soon. We were hoping he could have surgery to have the port taken out this summer. His doctor still wants regular labs and is not ready for the port to be removed. Ezra's port has been a lifesaver, but as long as it is in, Ezra remains on a fever alert where if he develops even a low grade fever we have to run to Sloan no matter what time of day for cultures and IV antibiotics. This is going to make life very tricky come September when Ezra is in school on a regular basis and exposed to more germs. Our fear is that we will be constantly running him to the hospital, which is what life was like before transplant. We will just have to see how it plays out and navigate from there. 

For 6 years, we have lived in the land of the sick. Leaping into the land of the healthy has been wonderful, but has also meant adjustments for all of us. We are learning Ezra's boundaries - what he is comfortable with and what he does not comprehend - as well as our boundaries. At some point during this journey, a doctor told us that the young children end up forgetting all about what they went through during transplant, but the parents will forever look like deer caught in headlights. This prediction has rung true to a great extent, but what is most important to us is the hope that Ezra will not remember the pain and suffering he has been through. We will gladly be the frightened deer in order for him to be free. 

The top picture attached to this post was taken at our front door the day Ezra was discharged from the hospital after nearly 3 months in isolation following the first transplant in 2012. We were so happy to finally be home, but also so scared and beaten down as we knew the graft was slipping and we were losing the transplant. We were coming back to a life of closed doors and more isolation. The bottom picture is in front of our door as Ezra left for his first day of school, three weeks ago. There is only overwhelming joy in this picture as we send Ezra off to a life full of open doors. 

Spring Awakening

It's been about 6 weeks since we found out that Ezra responded to vaccination and with that news, everything changed. It has been a whirlwind of a month with a lot of big changes both medically and socially. We have been slowly testing the waters of "normal" life one little toe at a time, which has been wonderful and scary at the same time. 

On the medical front, Ezra's counts are great and he is now off steroids for the first time in over a year and a half!  Even better - he is now off all medications, aside from vitamins and supplements for the first time since he was 4 months old! This includes the prophylactic antibiotics to prevent the type of pneumonia that attacks Hyper IgM patients, which Ezra has been on in one form or another also since he was 4 months old. Again, wonderful and scary at the same time. 

We are also continuing to vaccinate him, much to Ezra's chagrin. No one likes shots, but we are finding that Ezra is having an especially difficult time, likely from all that he has been through in the past. His doctor wants to give him a little break because she thinks he's getting too traumatized. As much as we want him to be as protected as possible as quickly as possible, she is correct and we will take the vaccination process slowly. Or maybe it's Ezra's demands to his doctor that she "figure out how to put the vaccine through his port." He isn't buying her reasons for why science takes a long time ;)

On the social front, Ezra is making great strides. He has been enjoying having play dates, learning what it means to play with another child, and reuniting with family and friends. We've also been having a blast going to some public places that were previously off limits. Even the most simple outing is a treat to us. 

We are still taking precautions and not knowingly exposing Ezra to anyone who is sick. We clean his hands regularly while out and Ezra knows not to touch his face when his hands aren't clean. Ezra is still under a fever alert where we must take him to Sloan at any hour of the day or night if he shows signs of a fever for tests and IV antibiotics, which will be traumatic for all of us. So we are proceeding with caution. 

Our big project is to see if we can get Ezra into kindergarten on a limited basis before the school year is over. One of Ezra's home schooling teachers is a kindergarten teacher with a class at one of schools in our district. The plan, if all goes well, is for Ezra to attend her afternoon kindergarten class for a short amount of time a few days a week and see how he does. We have started bringing him to her classroom after school without any other children a couple of days a week for his home schooling instruction, and he is loving being in the classroom (and yes, he had to wear a tie for his first day!). Being with other children is going to pose more challenges, but we are working with a fantastic team and are confident that we will figure it out together. 

This new way of life still feels surreal. After 6 years of living in differing levels of isolation, our days now feel so full. Ezra's strength and energy have also been improving. Amazing what the right motivation can do. Whenever we see statistics about survival following transplant, and in particular when there are auto-antibody complications like Ezra faced, we feel so blessed and lucky. There was never anything but uncertainty that Ezra would survive. Now we spend each day grateful that he is here; he is strong; and he is healthy. A spring awakening like no other. 

THE CURE

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.

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. 

Third Time's A Charm?

Ezra received another vaccine shot on Friday. Now that he is on a lower dose of the immune suppressant, his doctor thought it was a good time to try and vaccinate him again. They will probably test for an antibody response at the four week mark, but his doctor said it is more likely to see a response at the eight week mark. IF we are to see a response. 

Ezra handled the shot so well - much better than last time when we had no advance notice. It is really incredible to watch him draw on all the strategies and methods he has learned over the years of medical trauma to pull himself through to a place of calm. We are very proud of him. 

Unfortunately, Ezra's IgG level (IgG level is basically the amount antibodies circulating in your blood at any time ready to fight off infection and the type of immunoglobulin that Ezra could not make prior to transplant) has decreased again. It has not dropped by a huge amount, but it also is not increasing. His doctor thinks his body is making some IgG, but not enough. Once again, what is most important for everyone to see is if he can respond to a vaccine. They are not going to give IVIG at this point, unless he gets sick or his IgG level drops more severely. 

With the lower IgG level, we are not sure that Ezra's going to be able to respond to the vaccine. We remain ever hopeful. They also took a slew of labs to check on Ezra's immune system and to make sure nothing is getting out of control on the autoantibody front now that he is on lower doses of steroids and the immune suppressant. More labs will be sent at our next clinic visit as well. It will be a nerve racking month for us as we wait for all these results to come in.  

While the country is in the midst of a measles outbreak and the ensuing debate over vaccination, it feels somewhat ironic to sit here praying for Ezra's immune system to have the ability to kick into action and respond to this vaccine. The people who choose not to vaccinate their children do not even realize how lucky they are to have a choice whether to vaccinate (and it should not be a choice). Anyone who has been following Ezra's journey knows what we would give for Ezra to be capable of making antibodies. It takes just a few minutes of learning about the immune system and these devastating diseases to see that vaccination is a gift. 

We have no choice. All we can do is to hope and pray that someday soon Ezra's new immune system starts to properly function. In the meantime, we are forced to rely on others doing their part at keeping deadly disease out of our communities. 

Unfortunately, we fear that too many do not care about the plight of their immune compromised and medically fragile neighbors, as well as all the children too young to be fully vaccinated. We shouldn't have to fear that others will make a "personal" choice that may threaten our son's life. Too many choose self over the health of the community, and not just in the realm of vaccination. We are left cringing at every report of an additional case of measles. An unnecessary fear to add to our list of fears. 

Please join us in hoping and praying that the third try does the trick and Ezra's immune system properly responds. And that we can keep him safe while we continue to wait. We will keep you all posted. 

Patience

The past two weeks have been great fun for Ezra, and he has enjoyed the holidays and the new year celebrations. We don't have the best news to report on the medical front, unfortunately. We got the results back on the vaccine antibodies. Unfortunately, Ezra has not responded to the vaccines. It does look like he has responded to polio, one of several vaccines he received, but the doctor wants to see him mount more of an antibody response before we breathe any sigh of relief or make any changes to his treatment/situation. There is no real explanation for why he responded to one vaccine and not the others. The plan is to give him another shot in a month and see if he responds then. 

We are of course disappointed and worried that he did not respond to the vaccines. Ezra's doctor, while also disappointed, is confident that with time and lower doses of the immune suppressing drugs, he will be able to have a proper antibody response. Bottom line is that we continue to need to be patient. We've been patiently waiting for a cure for the past five years, and we can certainly stay the course. We always say that as long as things don't go in the wrong direction, we can be as patient as can be. 

In the meantime, he needs to get onto a lower dose of the immune suppressant to have proper immune system function. The dose has been going down by very small increments each week. So far, so good. His counts are not showing any signs of autoantibodies. The only other lingering issue at the moment is his iron levels, which are dipping again. At least that issue is easily remedied with IV iron, as long as we keep a close eye on the levels. 

We are prepared to hunker down for the germy winter. Our number one goal, as always, is to keep Ezra safe, healthy and happy, and hope that his immune system gets its act together soon. If we don't blog as often, please don't worry - it means that all is status quo, at least for the most part. Here's to hoping for some quiet times as we start 2015!

P.S. For those of you who do not follow Ezra's Facebook page, here is the link to an article I wrote about Ezra and the Gift of Life Bone Marrow Foundation for the New York Times parenting blog: http://nyti.ms/1ztEpys

T It Up!

Good news on the T cell front - Ezra's T cells have reached the normal range! We also received the results of the general function T cell test and his T cells have surpassed the "two-thirds of normal" immunological marker. They aren't functioning normally yet, but they are making slow and steady progress towards a safer place. Looking back to September, Ezra still had very few T cells, and it felt like we would never see the day when he would have normal T cell numbers. Now, three months later, he made it!

Although we have reached this milestone, nothing changes as far as his treatment and isolation. In fact, Ezra had normal levels for these tests prior to transplant, but this is an important milestone for a post-T cell depleted transplant patient. We still need to see if he can make antibodies in response to the vaccine. This will be the true test of whether he is cured. Another round of tests to see if he responded to the vaccine have been sent to the lab, and we should have the results in the next couple of weeks. Please send some positive antibody thoughts Ezra's way!

We have also continued the slow wean of the immune suppressant. Getting off the immune suppressant and steroids is another challenge that Ezra needs to surmount in order to have a properly functioning immune system. His doctors are keeping a close eye on his counts to make sure there is no autoantibody flare up while we wean. So far, so good. 

We have been fully enjoying the light of Hanukkah this year. It isn't just the giant menorah that is once again on our front lawn. It is the love that has been bestowed upon Ezra. He has received gifts from many people who we know wish him good health most of all, but want him to also enjoy himself in the meantime. He is having a blast! 

We also had the opportunity to celebrate the holidays at Menorial Sloan-Kettering's annual pediatric holiday party. We spent time with Ezra's wonderful primary nurses from his time in-patient and celebrated with the doctors, nurses and staff who have gotten us through the most difficult times of our lives. It is also Ezra's favorite time of the year at the hospital because hidden away in the basement level is a magical hallway transformed into a winter wonderland by the operations staff, including a model train display that always captivates Ezra. We've become experts at finding light in even the darkest of places. Happy Holidays to all!