Monday, October 14, 2013

MEET EZRA: A DIAGNOSIS - PART 2

Alternative title for this blog post: Bone Marrow Transplant Postponed...INDEFINITELY!

There has been so much uncertainty for so many months now...so much of what I have written on this blog has been about the difficult task of facing the unknown (even the post I wrote just this morning!). There have been what seems like a hundred blood tests, five genetic tests, one platelet transfusion, four sedations, two bone marrow biopsies, scoping, ultrasounds, x-rays, an EKG, surgery, a feeding tube, medications, at-home chemo...and so many other difficult things that Ezra has endured...seemingly with no end in sight. But late this afternoon we got a phone call from our doctor to tell us that this latest round of genetic testing has confirmed that Ezra does in fact have Noonan Syndrome (his version is caused by a mutation in a gene called PTPN11). What this means is that Ezra's leukemia (JMML) could resolve on its own without a bone marrow transplant! It means that we finally have an answer, or a large part of the answer, to ALL of Ezra's medical issues. With this diagnosis we finally have some more clarity, we finally have some more direction. Finally.

This news is bittersweet. On the one hand we are elated at the likelihood Ezra will not have to undergo a bone marrow transplant. On the other hand, how can we possibly be elated to learn that our son has a genetic disorder? Such a tough question, to which we don't have an answer right now.

We do know that Ezra still has his long list of medical issues, at the forefront which lies his failure to thrive and GI/stomach issues. We know that he will be facing another surgery in a couple months. We know that blood tests are not a thing of the past, they will continue...possibly with less frequency than before. We know that Ezra will remain on chemo for a while until his oncologist is comfortable taking him off...and after he is taken off we will have to watch to see how the JMML and his blood cell counts respond. We know that Ezra is not 100% out of the woods for needing a bone marrow transplant or more aggressive cancer treatment. We know that the road ahead of us is not easy. We know all of these things now, and for the moment, we can breathe a small sigh of relief.

We want to take this opportunity to reiterate that childhood cancer is an indiscriminate killer...it needs our attention. We want to take this opportunity to encourage you to join the bone marrow registry, it could save the life of a child just like Ezra. We want to take this opportunity to inform you about Noonan Syndrome...something you've probably never heard of until now (so much information out there is false and/or outdated - to learn current, factual information start here). We want to take this opportunity to thank you for joining us on this journey...it is not over...in some ways it is just beginning. We want to take this opportunity to thank you for your prayers and support as we look ahead to better days for our sweet boy.



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