The Diagnosis
May 25, 2023 was the worst day of my life. Until now, I have had a very blessed life. A very normal life.
While we had run a few prior genetic tests to assess Loic’s balance issues and speech delay, my mindset going into exome testing was what Loic has will be nothing horrible, or even that serious, because we’ve already ruled those out. Over the last year, he was continuing to progress- walking, running, talking. He is loving, engaging, and smart as a whip. He was initially diagnosed with global apraxia, a very treatable condition where, with therapy, he would catch up with everyone else around age 7 or 8. We could handle this, and we were.
Looking back at the day we agreed to move forward with additional testing, I asked the geneticist if she could tell me the names of a few of the 1,500 possible disorders that she thinks it could be so I could read about them and think about what we could expect. In response, she told me she wasn’t going to tell me because I don’t need to be going down rabbit holes reading about horrible diseases that he likely won’t have. Looking back, I did not know the road ahead would be far worse than what I would have likely read.
I had been anxious about the Zoom call with the geneticist all week. Waiting until mid-day on a Thursday made my week move slow for once. Was she calling us to talk about the tongue tremor or was this our test results?
As soon as she started talking, I knew something did not seem right. “We have some bad news.” My mind raced to thinking, “it can’t be that bad.” As she said the words- “pantothenate kinase-associated neurodegeneration…They call it PKAN.” I tried to write it down. I made her say it again. She went on, “it causes iron accumulation in the brain”… “kids require a wheelchair”… “it isn’t if he will have a feeding tube, it is when”… “he is young, it will likely progress quicker”… “there is no cure”… “there is no treatment”… “clinical trials”…
I wanted to vomit. My ears were ringing. This cannot be real. This cannot be fucking real.
I left work and uncontrollably sobbed the entire way home. My baby. My perfect little boy with a heart of gold and a smile that melts you. Eyes that pierce your soul. My entire heart that lives outside of my body. No one has ever loved me more. This cannot happen to him. I cannot watch him go through this. Watch him endure excruciating pain and deteriorate in front of my eyes. Bury him. This cannot be happening. He does not deserve this.
It is happening. It is happening. When will he not be able to walk? When will he not be able to put his tiny arms around me? When will he not be able to smile because he is hurting? I am present now, but I do not want another day to go by. I want this day, with this sweet innocent, perfect soul to last forever.
No one should have to endure the kind of grief we are experiencing for our child. Give me a cancer diagnosis, give me a serious disease, but do not give me this – an uncurable, untreatable disease where we are forced to watch our innocent baby deteriorate, suffer and die? I cannot imagine something hurting more than how my heart feels in my chest every day. I wish I could wake up from this.
