I have started this post so many times. And then I stop. It's so hard to explain. JMML is different than a "regular" leukemia...and now there is an added layer of complexity: PTPN11. A couple weeks ago I wrote about how JMML has three different categories of diagnostic criteria. Ezra fulfills all the diagnostic criteria for categories one and three, but up until last week, we were still waiting for results from category two. Category two is a group of genetic mutations found in the leukemia cells of approximately 90% of patients with JMML. Amidst the craziness of last week, we found out that Ezra does in fact fulfill category two criteria as well. A mutation in a gene called PTPN11 was found in his leukemia cells.
What does this mean? Well, it means that there is a 70% chance that Ezra has Noonan Syndrome, "the most common syndrome you've never heard of." Before I explain more about Noonan Syndrome, let me explain what this means for Ezra and his JMML. First off, a child with the PTPN11 mutation in his leukemia cells doesn't normally have Noonan Syndrome unless the mutation is also found in his healthy cells. When Ezra had his G-tube surgery last week, they took some skin biopsies so they can do the complete genetic testing to find out whether or not Ezra has the PTPN11 mutation in his healthy cells. This means we're back to the waiting game. We were told results would take six weeks...but being as familiar as we are with the genetic testing waiting game, we know that this could be closer to a three month wait. Why are these results so important? Well, hold onto your seats for this one. If Ezra also has the PTPN11 mutation in his healthy cells, then he does in fact have Noonan Syndrome, which means his leukemia could resolve on its own without a bone marrow transplant.
Your immediate response to this news is probably jubilation. We understand. We're pretty much feeling that way too. HOWEVER, Noonan Sydrome is no cake walk. "Noonan syndrome (NS) is a variably expressed, multisystem disorder with
an estimated prevalence of 1 in 1,000 – 2,500 births. People with NS may
experience bleeding issues, congenital heart defects including
hypertrophic cardiomyopathy and/or pulmonary valve stenosis, lymphatic
abnormalities, small stature/growth issues, feeding and gastrointestinal
issues, failure to thrive, hypertelorism, learning disorders,
unexplained chronic pain, chiari malformation, hypotonia, ptosis,
skeletal malformations, laryngomalacia,
tracheomalacia, opthamology issues, orthopaedic issues, oncology issues
and much, much more" (source: The Noonan Syndrome Foundation). AND, if Ezra has NS, there is no guarantee that the JMML will resolve itself and we could be back to square one facing a transplant any day (with a whole new world of additional challenges to face).
Where does this leave us? Right now we are just watching and waiting (and continuing to go to and from appointments with our oncologist and other specialists). If results come back and Ezra does have NS, the best case scenario is that we will wait up to a year to see if the JMML will resolve itself before undergoing a transplant (as long as the leukemia doesn't progress too aggressively). And, in the meantime, Ezra still has all his many health issues in addition to JMML, he is still on chemo, he is still
housebound, and the future of his health is still uncertain and scary
and confusing. If results come back and Ezra does not have NS (there is a 30% chance that he doesn't), we will proceed with the transplant. It is our understanding that a 9/10 match has been found, secured, and ready to go!
This post probably leaves many of you scratching your heads...none of this is easy to explain or understand. We just know that we want to share this latest development with you so that you can continue to pray for our sweet boy and all his many challenges, and for us as we try to be patient and make sense of it all. It's going to be a LONG six to 12 weeks as we wait to learn our next step in this already long journey. Thank you for waiting and hoping and praying with us.