It finally came…the phone call we had been waiting on for 3 desperately long months. The phone rang yesterday morning, & the caller ID said “Genetics”. I was both deeply longing for, and simultaneously dreading that phone call. The results could either lift us up, or lower the boom. Have you ever felt both both deep fear and excitement at the same time? I imagine it’s similar to how one feels before they jump out of a plane skydiving. It’s a very odd thing to experience, but I have felt it so many times on this journey that I’ve become quite familiar with it. My stomach began doing it’s anxious jumping-jacks, my heart pounding…picking up it’s pace by the millisecond…
<deep breaths Lacey, here we go…>
“Hello?…” I answered….
I knew what our genetic counselor, who works alongside our geneticist, was calling to report on. Back in January when the MRI revealed abnormalities in the white matter of Evy’s brain (which, for those who may not know, is what transmits information & signals from the various grey matter areas) and 2 anterior temporal cysts, we had lengthy appointment with both our geneticist and pediatric neurologist to discuss what was to come next. Although both Dr’s felt very certain that they know what extremely rare condition Evy has, the road still needed to begin with a 2nd and more extensive panel of genetic tests than had previously been done. Maaaaany things needed to be checked; most particularly, we needed to see if any results suggested a progressive disease, known as a type of leukodystrophy (which means further destruction of white matter in his brain). This was an absolutely terrifying option!! Everything in me was screaming “No!!! My sweet baby CANNOT have something like this!! We can’t really be in this situation….” It was like having a nightmare that you longed to wake up from. But we WERE in that situation. It was real. No escaping it.
Off to the lab we went….and we have been waiting since that day…
94 genes were tested, can you believe that? It seems like a huge number! No wonder it takes so long for such results to come back! The genetic counselor took me through all the results, and explained that they found 2 variations…but that variations in certain genes is nothing to worry about, as any “normal” (for lack of a better word!) person would likely see that they also have variations, if they were to have such testing done. I listened to her explaining each thing that they found that could be of any note…and then finally she said “So, what this all means is that….”
Cue the pounding heart and the jumping-jacks in my stomach again…with a slight feeling of needing to vomit….
<breath in, and breath out fully Lace…>
NOTHING in the 94 results suggest a progressive leukodystrophy!!!!! HALLELUJAH!!!!!!
I was so unbelievably ecstatic that I felt like I could have thrown-up!! The feeling of relief felt like a punch to the stomach, in a GOOD way! And eventually, when our conversation ended, I cried happy tears.
Now, this doesn’t mean we are out totally of the woods. It doesn’t mean that there is ZERO possibility of a leukodystrophy. Until we have a %100 firm diagnosis, we can’t know the answer to that. But this does move us even further away from that nasty possibility, and greatly tips the scales further towards what they DO think he has: RNAse T-2 Deficient Leukoencephalopathy. (Which is a static disease. It would mean he will continue to progress, just at his own pace, likely slower than other kiddos his age with neurotypical functioning.)
Another piece of the Evy puzzle is in place.
The next, and hopefully final piece of his puzzle, is the testing of that specific RNAse T-2 gene. Our geneticist must apply for funding for this very specific gene test, and the committee that approves such matters is meeting again at the end of May. We’ve been informed that it is very likely to be approved, and then we can move forward. So please, if you’re reading this, say a prayer or send out positive vibes for the committee to approve his funding!!
For now, we wait. AGAIN. However, there is a huge difference this time: we have the luxury of waiting with some form of comfort. And believe me, this is the greatest luxury we could ask for!!! We can seek refuge in the evidence that tells us that our little Bug is headed in the direction of a long, happy, healthy life. Those 94 genes, and his vast amounts of progress in all areas (speech, social skills, gross & fine motor skills), tell us and his many specialists that our darling boy has a wonderful life lying ahead of him.
Wow…even as I wrote that paragraph, the words felt almost unreal. Thank Goodness for this darling boy of ours. Our sweet Bug. Cheers to a long life for him!
I’m so full of relief and gratitude that I feel overcome, in the best way imaginable.
~Thank you for reading, and supporting our darling Bug on his journey. Please send out prayers or positive vibes that his funding for the gene test is approved! Onward and upward we go!