Monday, September 23, 2013

MEET EZRA: THE PTPN11 FACTOR

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.

Sunday, September 22, 2013

MEET EZRA: FIVE MONTHS OLD


This little guy turned 5 months old on Friday. Still has a smile on his face, even though he has been grumpier than usual on chemo meds and with a new hole in his stomach...who could blame him!? You are such a trooper, Ezra. So brave and so strong. We love you little buddy, here's to many more months that turn into many more years!

MEET EZRA: G-TUBE

I think we were all on auto-pilot this week. To say it was exhausting would be an understatement! So, this will be a picture-heavy post because I don't have the energy to write about it. But, just to recap, Ezra hasn't grown in length and has been in the 11-pound range since JULY. In fact, before the surgery Wednesday, he still hadn't broken 12 lbs. (It is mainly the massive size of his spleen crowding his stomach that makes it impossible for Ezra to hold down very much at a time, so he can only breastfeed very small amounts without vomiting). After much feet-dragging, soul-searching, and doctor-urging (and lots of frustrations actually scheduling the surgery), Ezra finally had a G-tube surgically placed at Sacred Heart in Springfield on Wednesday. The idea is that he will be on a drip feed throughout the night to try to get him some more calories at a very slow rate. The tube will also help us administer Ezra's chemo meds.

Before surgery. Poor little guy had to go 12+ hours without eating (6 before surgery, 6 after).

Making this gown and bracelets look so handsome. Loved that it had a "Noah's Ark" theme to remind us that there is still a rainbow in store for Ezra :)

Sacred Heart is so high-tech! Thankful to have this reader board that told us what stages Ezra was at throughout the whole process as we waited anxiously. (Just like the reader board at an airport, only not quite as fun!)

After surgery, still pretty heavily sedated.

We had the most beautiful view from our hospital room...made the stay just a little more pleasant. (McKenzie River)

Lots of drugs made for a very sleepy Ezra.

This is what a G-tube looks like post surgery (it required two other incisions, one of them through the belly button).


Day 3 - so ready to go home!

Big brother hanging out in the hospital room window sill.

The little bear they put in Ezra's crib post-surgery, with a band-aid appropriately placed on the belly.
The week started out at Sacred Heart with a very unpleasant time at the lab, but the rest of the experience couldn't have been any better (except if we weren't there at all, of course ;) ). Our surgeon was amazing as were all the nurses who cared for Ezra. So very thankful to those in the medical field, for the crazy hours they work and the way they teach us to take care of our sick little ones! And so very thankful to all of you for praying for Ezra and our family this week. Please keep praying for little E and the rest of us as we adjust to this new world of feeding tubes and a house full of medical equipment.

PS - We are so thankful to our families for caring for Judah while we are away caring for Ezra...Josh's parents when we are up at Doernbecher's, and my parents and sister when we are closer to home. Being away from Judah is excruciatingly painful, and having him nearby wherever we are makes this trial just a tiny bit easier.

PPS - A special thank you to Josh's co-worker, Amber, who has set-up a bake sale each Friday at work to benefit our family. Thank you, Amber!

Sunday, September 15, 2013

MEET EZRA: FRUSTRATIONS & SUNSHINE

So, here's the update. It was a frustrating week. Coordinating all of Ezra's medical care is something we have been doing for nearly 5 months now, but it never seems to get any easier. Especially with new doctors and specialists added to the mix. This week was all about trying to get Ezra's feeding tube surgery scheduled. Josh fielded most of the phone calls...it's a wonder he's still sporting a ponytail because I know he wanted to pull his hair out after about the hundredth call. Long story short, Doernbecher's surgery department has recently undergone some restructuring and hasn't quite put all the pieces back together...so we have been referred down to Sacred Heart. We have a consultation down there tomorrow and Ezra will have surgery there on Wednesday. Please send extra prayers that day. Ezra hasn't been doing so well with his at home chemo as of late. He wants NOTHING to do with one of the medications and his puking has really picked up. As much as we have wanted to avoid the feeding tube, the time has come.

In other bummer news, we never received the test results we thought we would receive last week. You would think by now we would have learned that any kind of genetic testing is NEVER done when they say it's going to be done...but wishful thinking often gets the best of us. We also learned that depending on the results of said tests, we may have to start additional genetic testing that will take at least another six weeks. We'll just cross that bridge when we get there, though, because the thought of sitting here another six plus weeks waiting for test results does not sound like fun at all.

In the meantime, this is what our life looks like these days:

A, "Thanks for stopping by," but sorry we cannot have visitors right now sign at the front door. (By the way, thanks to all who have signed up to bring meals...they have been a tremendous blessing).


Reminders on the front and back doors to immediately remove shoes, wash hands, and use hospital grade sanitizer.

Chemo meds, medical gloves, syringes, etc on the top of the fridge where they are far out of our three-year-old's reach but easily accessible for daily use.

Amidst all the frustrations and inconveniences of being housebound are many rays of sunshine...Ezra's adorable smiles and new found love of his toes...Judah's hilarious sayings and the sweet things he tells baby brother when he's crying...all of you who are praying for us and offering your generosity and encouragement. And, something that I haven't shared yet that has been such a tremendous blessing, is the way God put a sweet woman in our lives named Kasey. Weeks ago, a friend from Oregon now living in Tennessee shared Ezra's story and prayer request with her small group. When the 'JMML diagnosis' came up, another woman in that small group knew that she had to help get us in touch with her friend Kasey. So who is Kasey? Well, she's another 31-year-old woman like myself, clear on the other side of the country...and she is the mama of a boy named Ethan who is a FIVE YEAR SURVIVOR of JMML! Like Ezra, Ethan was diagnosed when he was just a tiny baby, he underwent a transplant shortly after, and now, in the words of Kasey, "is not only surviving, but thriving." Kasey doesn't just offer her own family's story of hope for our family, but she is a sounding board for our questions, our worries...just someone who can empathize with our situation in a way very few people are capable of doing. Thank you Kasey for being a ray of sunshine to us (and thank you Lindsay Lizotte, for voicing that prayer request weeks ago...words cannot express how truly grateful we are for the divine intervention that brought Kasey into our lives...through you!).


Sunday, September 8, 2013

MEET EZRA: AT HOME CHEMO & SEARCHING FOR A MATCH


This past week was a long, slow week as we waited for more test results. Here's what we know: Judah is not a match for his brother. Very bittersweet news. On the one hand we are devastated for Ezra's sake (because that would have been the best, closest, quickest match)...and on the other hand we are relieved for Judah's sake. We're not quite sure how we could have explained to our band-aid-fearing, ice-pack-hating 3-year-old that he would have to get poked with needles and go through all these traumatic things in order to save his baby brother's life...because that's just not something you could possibly explain to a 3-year-old. And we just can't imagine BOTH our babies in pain...one is hard enough. The good news is that preliminary searches have already found some 9/10 (marrow) and 5/6 (cord blood) matches in the donor registry, but we will have to wait for further screening on those.

The other test results we are awaiting are a little more complicated to explain. Basically, there are three categories used to diagnose JMML. Ezra fulfills the diagnostic criteria for categories one and three, but we are still waiting for results from category two (although, the JMML diagnosis can be made, and has been made for Ezra regardless of those results). Results from category two (essentially, a group of genetic mutations commonly found in patients with JMML) could change how we proceed with treatment/transplant...so we have a lot riding on those results. We hope to receive them this week.

In the meantime, Ezra is hardly even 12 lbs and hasn't gained any weight or length for close to two months. His spleen is so enlarged, his stomach is crowded and unable to get the amount of food he needs to grow. So, while we are awaiting a date to have a feeding tube surgically placed (called a G-J tube), we have started chemo treatments at home with the goal of getting Ezra's spleen to shrink and make more room for his stomach. So far Ezra has done as well as can be expected taking his chemo medicines, but it's hard to say how intense the side-effects will be once he's been on them for a longer period of time.

We are continually amazed and humbled by everyone's generosity and thoughtfulness while our family endures this incredibly trying time...please know how very thankful we are. We ask for your continued prayers as we await more test results, for the pending surgery and transplant, and for Ezra to continue to do well with his at home chemo. This is by far the hardest trial we have ever endured, but by the grace of God, we keep putting one foot in front of the other each day, and we trust that he will continue to provide the strength and courage we need going forward. Thank you so much for your love and support and for helping to keep us encouraged.

PS - A special thanks to Melissa Ann Photography (photo above) for blessing us with a photo shoot earlier this week. We are so grateful for the opportunity to have our family photographs taken while Ezra is still healthy enough to be at home. Thank you Melissa!

Sunday, September 1, 2013

MEET EZRA: QUICK UPDATE


Since sharing the JMML news, we have been back up to Doernbecher's to meet our oncologist and talk more about Ezra's diagnosis and treatment plan. Given the complex nature of JMML, our path forward is a little uncertain at this time. I keep wanting to write a detailed update for you all to explain some things, but there is so much to say, and it's so complicated, it's really too hard to put into words right now. Hopefully we will have some more direction by the end of the week and I can write an update then. In the meantime we are still at home and Ezra is relatively "healthy," but his immune system is of course compromised and we have to be extremely cautious (translation: no outings to public places except for doctor's visits).

Thank you, thank you for the continued prayers, love, and support!

PS - A couple of our friends from church have lovingly set up a Caring Bridge site and support planner for us which you can visit here: http://www.caringbridge.org/visit/ezraparker.

PPS - September is National Childhood Cancer Awareness Month. Here are some ways you can support childhood cancer: http://mindithemagnificent.com/what-you-can-do-to-support-childhood-cancer/

Shoot, one more thing! I shared this on Facebook the other day, but in case you didn't see it:

Many of you have expressed your desire and willingness to donate your bone marrow for Ezra. Words cannot express our appreciation for this amazing, selfless act of kindness. Unfortunately, it is highly unlikely you will be a match for Ezra...in fact, the only person that they are willing to test is Judah (there is a 1 in 4 chance that he will be a match). What you can do is join the registry anyway (for free)...it is a huge commitment, but it could potentially save the life of another precious child. Please visit here to learn more: Be the Match - National Marrow Donor Program