I feel like I could write an entire novel describing all the ups and downs we experienced while waiting for a diagnosis. The scariest moment and the one that will forever be etched in my brain, is when we received a letter in the mail explaining Avery’s lab work. It came a week after we had given his blood samples for testing. As with all medical paperwork, there were a lot of numbers and words we did not understand. However, listed under the most important section, “What We Are Searching For,” there was a specific diagnosis…
Clearly, I hadn’t learned my lesson and thus referred to ‘trusty’ Google so that we could look up the details. It was crushing news: a tragic lifespan of only 5-6 years. When I shared this with my husband, the air in the room went still. For the first time, our worst-case scenario became very real. Our reactions were uncontrollable. We were angry, scared and so very sad. Eventually I realized that we needed to calm ourselves down and not jump to any more conclusions until we spoke with the genetic counselor.
I called our counselor first thing in the morning for an explanation of the letter and diagnosis. I got off the phone overwhelmingly relieved and overwhelmingly furious. I was told that when preparing a letter for genetic testing, the laboratory’s computer system would automatically just pick one of the hundreds of diagnoses they are looking for and use it as the “title” for the round of testing. I was informed that this issue had come up before and they were working on a “fix.” Seriously?! I immediately called my husband to let him know about the mistake. Still angry, I proceeded to call multiple people at the lab and genetics department to discuss why they would allow something like this to happen and to make sure they understood how important it was to make sure this could not happen to another family.
I feel the need to share this specific story to convey how we were feeling during this waiting period. My husband and I were trying so hard to hope for the best but couldn’t help feeling as if the floor could drop from underneath us at any moment. It was excruciating.
“It’s interesting how we often can’t see the ways in which we are being strong-like, you can’t be aware of what you’re doing that’s tough and brave at the time that you’re doing it because if you knew that it was brave, then you’d be scared.” ~Lena Dunham