I realize it’s been a minute since I’ve put my thoughts to paper.
Probably because I wasn’t even sure what to write.
Probably because I’m not even sure what to think.
Aspen has accrued a long list of diagnoses at this point:
Failure to thrive as infant
Failure to thrive in pediatric patient
Gastronomy tube in place
Other specified congenital malformation syndromes, not elsewhere classified
Short stature for age
Slow weight gain in pediatric patient
Multiple minor phenotypic anomalies
And the latest…
Monoallelic mutation of KMT2A gene
After countless appointments, endless blood draws, various tests and consultations with specialists across the board, are we closer to understanding Aspen’s growth failure and development?
Big sigh…yes. I think, finally, we are.
While we are still in some grey, the most recent finding actually points to something significant.
Something that may ultimately give us some direction and define her life.
In the latest testing, a specific gene mutation that was revealed on a previous exam was re-classified to likely pathogenic. In simplest terms, this means that it is likely capable of causing disease or disorder. Basically it's now thought that her features, development and delay and her failure to thrive are likely due to a genetic syndrome with this mutated gene.
I’ve said from the beginning, if we just knew Aspen had this_____. If Aspen had that _____ -
I would sleep (somewhat) better at night.
That it was the unknown of what we’re dealing with that has escalated the crazy.
That it was the constant drum of well-meaning folks that told me she was “fine” that battled the consistent hum of me feeling things were actually not fine.
It's like, do you hang on to that hope that maybe they are right? That the doctors are wrong? That she’s okay?... just starting her time on earth a little more slowly than most?
Or do you acknowledge the doubt, the worry, the feeling deep inside that something is not right… That this shouldn’t be this hard. That none of this experience is “normal”. Do you give it a voice because the alternative is basically a mental institution? Because trying to nod, pretend, and deny has completely sucked the life out of you. And the lingering hope no longer feels well, hopeful. It just feels… exhausting.
And you just want to move forward. You want to keep moving forward. With reclaimed confidence that you lost with this one for far too long.
With a diagnosis, even one that I don’t want, a sense of understanding may ultimately quiet a bit of the crazy. The endless mental loops and rabbit holes and questions that have haunted me since this turkey leg was one month old.
At 20 months now, the road ahead will still be very grey, as we simply love on and nurture and watch her development unfold.
But maybe that fog will lift some. And the rays of sunshine that literally pour out of this tiny tot will continue to provide more light than anything before her.