When Someone Said “So What” About My Daughter’s Rare Disease
January 6, 2016
Just recently, when I was speaking to a friend, I explained a new development in the progression of my 7-year-old daughter’s condition. This particular disclosure was about something no one would ever want to know is happening to a loved one. It was a detail I tried to avoid learning, but I felt obligated to read the medical records when they arrived in the mail.
I know that I should expect GM1 Gangliosidosis to get worse. It’s a progressive neurological disease. I know the prognosis and it’s definitely not good. I’ve spoken to enough doctors to know that no one wants to give me a false sense of hope. I’ve read more about GM1 than I care to remember. But knowing the disease characteristics is not the same as accepting the disease as it plays out in our lives.
I stared at the medical records glumly. There it was in black and white…yet another confirmation that this is a “big time” disease. GM1 Gangliosidosis is a rare disease and it is degenerative and fatal. There’s no treatment or cure. The textbook progression is marked by the worst kind of milestones: feeding tubes, pneumonias, loss of speech, loss of the ability to swallow and the list goes on. Try as I may, at times, it’s impossible to ignore the gravity of the situation. We hope for plateaus. We live one day at a time. As unrealistic as it may be, we still hope a cure might arrive in time.
When I confided in my friend, “So what,” he replied to me. At first, I was incensed. “So what?!” I just shared an intimate detail that I could barely internalize. I ran the conversation by my husband. His reply: “It’s not the most sensitive thing to say, but in a way, he’s right.” I’ve been told repeatedly what will happen, so why should the test results have been a surprise?
I’m human. It was difficult to accept the new information and the blunt response. In truth, the words on the page of the medical record changed nothing. This single test result, while very disappointing was just a factoid. It has since faded to the recesses of my mind. The comment “So what” jostled me from my funk and forced me think about the intended meaning of the comment.
A medical test result does not change my love for my daughter. This particular factoid does not truly impact our day to day lives.
The time I have with my daughter is too valuable to let myself be consumed by this disease. I try in earnest to not to dwell on what was or what will be. Sad news is startling and the ongoing impact of this condition is undeniable. The entire experience of living with a disease like GM1 is not pleasant in any way, shape, or form. Still, the situation is what it is. We’re fighting this daily. We get knocked down. We pick ourselves back up.
A doctor once tried to convince me that this disease is not so hard on the children, but is much harder on the parents. While I agree that it can be very hard on the parents, I believe it’s much harder on the actual affected person. It is my sweet courageous daughter who lives each day as her own body fails her and destroys her central nervous system. It is she who must experience the full brunt of every symptom, blood draw ,and medical procedure. Even before diagnosis, at a very tender age, it is she who understood she would never keep up with other kids on the playground. It is she who fights against all odds for every footstep and for each syllable on her tongue.
She is my teacher. She is my hero. So, that’s what.
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