Holiday Update - Turning the Corner

We often talk about how appreciative we are of all the support we receive. But that is often at the end of our posts, when frankly it should be the lede (yes, that is the correct spelling in this instance).

Whether it is the full “suite of care” we receive at Yale, or the visits from family, friends, and neighbors, or the genuine offers to lend a hand, or the food deliveries that are providing a layer of protection against the coming winter, or just the occasional check-ins we receive from everyone - including the amazing nurses and hospital staff at Yale and current and past colleagues, this journey has been made so much more tolerable by the support we feel and share with Charlie.

It’s an interesting decision to make as to how open or public to be about all of this. Not only for us, but also to make the decision for your child. Creating an online presence for Crash (in his own name no less) in and of itself was something we debated and hopefully we got right. And now with this very personal and public sharing of our collective struggles with his disease - I don’t know, hopefully when he is 12 or 15 or 17 he doesn’t hate us. Well, as a teenager he probably will, but hopefully not for choices we’ve made for him about his privacy.

But no matter how annoyed he might get, one thing he and others will know is how truly loved, supported and thought after he is by so many. I know he feels it now - he just doesn’t know how special that is. He just thinks that is normal life. (Getting turned down for prom will be so confusing to him).

So again, a deep thank you to everyone.

We are just past the ³⁄₄ mark for our chemo treatments. Another five more three-week cycles to go and we should be done in the end of March.

We have just completed a full set of scans (brain, bone, chest, abdomen) and all came back clean - meaning the cancer has not progressed to the other parts of his body. We have also just come off of another surgery for a small (6mm) cyst on the bottom of his other (left lung). Similar to the scans, the surgery went well and they were able to remove the cyst quickly and completely through a thoracoscopy (small incision/camera) and recovery was quick. Home a few days later and thankfully no fevers yet. So good in fact, that we are planning a Christmas visit to Ami’s family in the Boston area followed by a return for chemo on Friday on the 27th.

But, in a break from our continued string of good news post diagnosis, we have determined that he does, in fact, have a germline mutation of his DICER1 gene. This is not necessarily horrible news but mutations of this gene have a history of causing other endocrine cancers. These other cancers aren’t usually until later in life (adolescence and beyond) which provides time for medical advancement. So while it looks like we are on the road to beating PPB, Crash may have other fights ahead of him.

As we have mentioned in a previous post, having mutations of this gene is not uncommon with PPB (70-80%) - it just means that we need to be diligent and a bit lucky for years to come. When we were previously told that Crash was germline negative, it was because his mutation was not a DICER1 “hot spot” that had been previously identified. After more comprehensive testing over the past few months - they identified the irregular sequence in his DICER1 gene. Since it is the first/only mutation of its kind that has been registered, it is unclear what that might mean. It could be that that particular mutation only impacts cells in the lung in early development or that it will follow the same pattern of the previously identified mutations and our next “worry zone” will be in his young teens, or it could bring us down an entirely new and different course. But one thing it will definitely mean is that we will be vigilant in his monitoring, forward-thinking about medical advances, and continuing to shower Charlie and brother Jack with love and our constant appreciation that both of these amazing little boys have come into our lives.

We have a tremendous amount to be thankful for this season.

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