A year ago today, we sat in a doctor’s office and heard E’s diagnosis for the first time. Her doctor came into the room, flanked by two nurses who gently took a squirmy E from our arms. The doctor sat down, and began reading us the genetic report.
Congenital anomalies, intellectual disability. Developmental delay, absent or impaired speech, neonatal hypotonia. Autistic behaviors and mild dysmorphic features. Phelan-McDermid Syndrome. Distal 7q Duplication.
Suddenly, there it was. A name for her difficulties. There’s a list of symptoms to check off or await. There’s a reason behind all of her struggles! It’s the answer we had been looking for! We should be relieved, right?
I often liken receiving her diagnosis to being in a dark room, searching frantically for a door, getting shoved through one without warning and then having it locked behind us. It wasn’t the door we would have chosen to go through, and now there is no going back.
It was our D-Day. The day everything, yet nothing changed.
As the news sank in, we were devastated. The devastation quickly evolved into desperation. How could our sweet girl, who was smiling in the nurses’ arms across the room be the same person who the report was written for? Our girl is strong, happy, and is doing just fine! She’s fine! The person who this report was written for was “damaged“, the core of who she is was written “incorrectly”… and she will have a lifetime of troubles. This can’t be her report. Check the name, redraw the blood, we want a second opinion. Please. Please. Please.
“This is most definitely her report. I’m sorry.”
The doctor allowed us to stay for 4 hours to discuss what our next steps should be, and to answer any questions. We are eternally grateful for how she handled this time for us. She didn’t drop the bomb of E’s diagnosis and send us on our way. She gave us time and space to process, to research, and to cry. It was such a gift to our souls.
We left the office that afternoon with our eyes swollen from tears and packets of information in our hands… and we took E home.
The one we had believed in so strongly and with no reservations that just weeks before we had made t-shirts with her name on them emblazoned with the word WILL. The one who had a rough start to her life with 10 weeks in the NICU, but we knew, just knew that was the worst she would see and it was going to get better for her. The one who I “matched up” with my friends’ sons, and we laughed at how her Daddy would be on their first date. The one who because we had no syndromes to relate to her… we had no limitations, we had no reason to believe that our hopes for her wouldn’t happen… but now, as of D-Day, we did.
The days to follow were filled with despair. The grief was crippling, and still is on certain days. There was a lot of doubt on my part: a lot of “Why her, Lord?”, and “We can’t do this!” We devoured any information we could find. There wasn’t much: being rare is cool but it has major disadvantages: a big one being lack of information available. What we did find was debilitating at times. Her future could potentially be downright dismal… Why, Lord? Why her? She doesn’t deserve it.
With information came much-needed direction, but oh. My soul was so downcast within me.
But God sent us a second D-Day:
The shirts bearing her name and WILL shirts arrived on our doorstep not long after the first D-Day. We tore open the package and simultaneously burst into tears. Seeing E’s name on a t-shirt, and remembering the pure HOPE we had as we designed those shirts… Something changed in us.
We realized that E is still our E. Whether we had gotten results or not she would have still had Phelan-McDermid Syndrome and a Distal 7q Duplication. They’re as much a part of her as her smile… But they do not define her. She is the same sweet girl who we made those t-shirts for: our hope hadn’t been naive, it was purposeful and beautiful… Even more so now.
So we decided, then and there, that E WILL. No matter what. We will not dare to limit her. We are determined to shoot for the moon with her. We will push and push and push for her until our hearts stop beating. Because, no matter the difficulties or despair, devastation or debilitating diagnosis… She is our daughter. We will defend and delight over her, and she will dazzle us all.