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Learning to Live With the Unknown of a Rare Genetic Disorder

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Exactly seven weeks after my daughter Sydney was born I took her to see a neurologist to figure out why she was having trouble coordinating her suck/swallow reflex and why her eyes were crossed. The appointment was on a Friday evening at 5 p.m. I desperately needed to hear from a professional that all of my anxiety and constant worry about Sydney was unfounded. I envisioned the doctor would end the appointment by saying, “your daughter is a healthy newborn and you are ridiculous for thinking you need to see a neurologist.”

Needless to say, I would not be writing this story if that was the way it went. After a lengthy consultation and examination I did not hear what I so desperately hoped for.  Instead I was told, “It is too early for me to make any judgments, and I would like to see you back here in three months.”

I was stunned, but not really sure why I was. I obviously went there for a reason. I knew in my heart something was wrong. I would have been more surprised if he told me what I had hoped to hear. Regardless, I was shocked. I insisted he tell me why he needed to see her again and what was making him so uncomfortable. He held firm in saying it was too early to diagnose Sydney and I was to bring her back for a follow-up in three months.

Unfortunately for him (and me), I just could not let it go.

We were the only people left in the office, and I continued to pressure him into revealing his suspicions, but he offered me nothing concrete. He was refusing to speculate with me at all but finally, frustrated and exhausted, he acquiesced. The neurologist uttered a simple yet rather powerful statement that would define how I live the rest of my life. He said, “You are going to have to learn to live with the unknown.” Such a simple phrase yet what an incredible analogy for a life with medical complexity.

I left that office devastated and distraught. For a person who so desperately wanted a crystal ball to predict the future, this was the worst thing you could tell me. Living with the unknown was such a horrifying thought, and for the weeks and months to follow I hated that doctor with every fiber of my being. The unknown was such a vast and dark place, and I just dreaded the thought of being there for a single second.

The next time I took Sydney to a neurologist (a different one) would be the time when all the pieces of the puzzle would come together, and any hope I had that her issues were nothing of concern was gone forever.

Today as I sit with the knowledge that Sydney has a rare genetic disorder, I prefer to not get caught up in absolutes. Although the literature offers some insights into what to expect for her future, instead I work hard to look at the information as a guide, but not as a predictor of what that future holds.

Seven weeks after Sydney was born I wanted answers, a reason, a definite scenario.  Truthfully, no one can ever give you that. Life does not work that way. I have learned that control is an illusion and the unknown leaves the door open for expectations and, therefore, is something to embrace rather than avoid.

The only thing I can control is how I choose to handle the idea of the unknown. For me, I have chosen to consider potential filled with hope, opportunity, and a future with possibilities.

I guess I have learned to live with the unknown.

Follow this journey on Strength for Sydney.

Originally published: November 10, 2016
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