A few weeks ago we finally got the results of Willa’s genetic testing. She has tested positive for the RB1 germinal (or germ line) gene mutation.
For most, this doesn’t mean anything but some words that sound like something taken from a MARVEL comic. I wish! I wish it meant Willa gained some crazy superhuman power that gave her the ability to lift cars with a finger or burn through walls with her eyes.
I’ll try to explain:
Our genes, made up of DNA, act as a sort of instruction book for making proteins. Every person has two copies of each gene, one inherited from our father and one from our mother. The RB1 gene, which everyone should have, provides instructions for making a protein called pRB. pRB is a tumor suppressor, which in simple terms, means that its’ function is to protect your body from getting cancer, specifically (but not limited to) Retinoblastoma. So, everyone has two RB1 genes that work to maintain healthy cell growth. When Willa was formed, both of those RB1 genes were either damaged, mutated, or missing. At this point, we don’t know if the damaged gene was inherited, or mutated upon development. But, what we do know is that if it was inherited, it means that either Steven or I had one damaged RB1 gene and never developed Retinoblastoma. Which is possible. Both RB1 genes have to be damaged, mutated, or missing in order to develop this RB1 germ line mutation.
Now, what germinal or germ line means is that the RB1 mutation is present in every cell of Willa’s body. So Willa’s body is unable to produce functional pRB and cannot regulate cell division effectively. ……bring on the Frankincense (that’s for all my essential oil lovers).
I was trying to think of an image to help with this extremely intricate explanation. The best I could come up with was this: it’s like you’re going to sleep in a room in a mosquito infested place, like the middle of the rainforest. Surrounding your bed you have a mosquito net (RB1 gene #1) and just to be extra safe, you add a second net on top of the first (RB1 gene #2). With both nets intact, no mosquitos would be able to get inside to bite you. With one net destroyed there’s a greater chance that a mosquito could get inside, but still not impossible to keep them out. With both nets gone or damaged, you are completely exposed to the mosquitos and you are going to get bit. You just have no control or idea how many bites you’re going to wake up with in the morning, or where those bites are going to be, or when you’re going to get them considering you continue sleeping without the nets. That might be the worst analogy to help explain the RB1 gene mutation, but hey, I’m not getting graded on this stuff.
So far, all of Willa’s EUAs have come back clear. But, with this new information, we can expect that there will be more tumors in her remaining eye. She is also more at risk for certain cancers than the general population. About 25% more likely. But statistics are a hard thing to pinpoint, and really, when your daughter is one of a handful of babies to have this “rare” disease, statistics just fly out the window. 25% starts sounding like an awful lot, and things you never thought could happen all start to seem incredibly possible…….HA! it works both ways for miracles as well as tragedies. Things you never thought could happen all start to seem incredibly possible.
Other cancers she is more susceptible to are pinealoma (cancer of the pineal gland in the brain, osteosarcoma(bone cancer), melanoma, and cancers of soft tissue like muscle. Our genetic counselor assured us that her likelihood of developing these other cancers are higher than the general population, but still very low. Still a tough pill to swallow.
Next week we head back to St. Jude. This will be the biggest trip since Willa’s first visit. She will have an MRI to check her brain, this will be her second MRI. She has another EUA. This will be her fifth EUA (I think, it’s hard to keep straight). Steven and I will have eye exams and blood drawn for genetic testing. Finn and Johnnie June will both have blood drawn for genetic testing. Our geneticist seemed pretty confident that more than likely, Willa is the first in our family to have this gene mutation. Because like I said before, the mutation can either be passed down from a parent, or both genes can get damaged or go missing during development in the womb. She said there’s a 10% chance that one of us has the mutation. Again with the statistics…..
This isn’t what we were hoping for, but we’ve seemed to come to terms with what it all means, or might mean. I’ve stayed pretty silent about it though, because in whole honesty, I was angry at these results. The thoughts swarming around in my mind in the few days after receiving her diagnosis reminded me of Job’s wife when she’s all “curse God and die”. I kept thinking….”I just want to give up and die right now. I don’t want this. It’s not worth it. I just want everything to be over.” And then later, I was extremely ashamed at how similar my heart was compared with Job’s wife who is definitely not someone in the Bible anyone gets excited to learn about. She’s a great example of what not to do. It’s easier to curl up and die inside sometimes when we’re faced with wrenching pain…..
But then last night, Steven said something while I was shouting through tears “This sucks! This freaking blows! I hate this!” He said….
God is using this pain and suffering to grow our hearts to love people more deeply.
And earlier that day I had stumbled upon the scripture that became our sort of mantra during our first trip to St. Jude with Willa that says “For your steadfast love is before my eyes, and I walk in your faithfulness.” From Psalm 26:3. I read the verse that precedes it and it said “Prove me, O Lord, and try me; test my heart and my mind.” BAM! Hit me like a ton of bricks.
Prove me, O Lord, and try me; test my heart and my mind.
For your steadfast love is before my eyes, and I walk in your faithfulness.
And then, as I was thinking about the most random of things, like when I would get to embroider again and what I would want the hoop to say. I thought about one of the first hoops I ever stitched that had the famous line from the 2006 television series Friday Night Lights…
Clear eyes, full hearts, can’t lose.
And all the sudden it was like Jesus busting through our silly pop culture and saying “That’s it! That’s all there is! What I’ve patiently, graciously been showing you…..keep your eyes clear. Clear of doubt and fear and the mess that so easily entangles, and instead center them on my steadfast love that I will constantly, diligently, keep right before your line of sight. Keep your heart full. Full of the truth of my Gospel, growing with love of and for my Gospel, love for all people that I have created in my image that are broken and desperate and longing to be known and held.”
Keep your eyes clear, your heart full and you cannot lose. It doesn’t matter what Satan says. It doesn’t matter what cancer says. “Losing the battle to cancer” doesn’t have the final word because that is not the fight we have been called out to fight! Our fight goes beyond the physical bounds of our ailments and sufferings. Our fight echoes into eternity and beyond our comprehension and we cannot lose while our eyes are fixed upon Him and our hearts swell with His perfect love and grace.
Just like Coach Taylor and the Dillon Panthers: it was about much more than a football game. Even if the scoreboard deceitfully declared that they were the losing team, if they maintained clear eyes and full hearts, they could not be labeled losers.
We can’t lose! We can’t lose! Willa’s fight isn’t against this cancer, her fight and your fight and our fight comes from deep within, where death cannot sting and Jesus stands, ready and willing, to carry us through because He loves us with a perfect love. A perfect love that He wildly extends to all His creation, to all ends of the earth. A boundless love. A victor’s love.
Scientifically confusing notes taken from here: http://ghr.nlm.nih.gov/gene/RB1