What I Learned by Not Keeping Silent About My Daughter's Cystinosis

Alone, terrified and heartbroken — that’s how I felt when my daughter was diagnosed with cystinosis. I didn’t know what it was, had never even heard of it before, but this disease was inside my little girl. Wreaking havoc on her tiny body.

It wasn’t yet officially confirmed, just a word casually dropped by the ophthalmologist when he checked her eyes for cystine crystals, a symptom of the disease. He’d assumed the nephrologist had already told us their suspicions, and he probably thought he was helping to ease my worry by confirming it. What he didn’t do was bother to explain it. Just prescribed some eye drops and sent us on our way.

So my husband and I turned to Google, and my heart shattered. Reading the symptoms, I knew. I knew this disease might be responsible for her declining appetite and poor growth. All those times I thought she was just a picky eater, or slow to develop, cystinosis was there, damaging her kidneys. She was only 15 months old. How could this be happening? There were terrifying terms and complications being thrown around.

My despair grew by the minute. I could feel it, dark and heavy, blurring my vision with tears and crushing my heart. Even with my husband by my side, the loneliness I felt in my grief was all consuming. Not having an official diagnosis, we hesitated in telling our family. Talking about it was confirmation that it was actually real. When something happens to your child, the one who relied on you to protect them, the pain can be excruciating. Reliving that and sharing it with others can be too much to bear.

A day later, I headed back to work. hoping to have something to distract me from my pain. The ride there was difficult, and I had a hard time keeping it together. Immediately I regretted my decision to give it a try. But when I arrived, I had tasks to complete and clients to assist, and I quickly found that keeping busy was actually working, at least temporarily.

It was the small talk with co-workers that proved to be too much for me. I couldn’t exchange niceties and answer questions about our plans for the weekend while pretending that nothing was wrong. Quickly I found myself mustering up the courage to spit out the words that had been haunting me for two days: “My daughter has cystinosis.”

They say the truth will set you free, and though I hadn’t been lying to myself, my silence had caged me with my pain. When I let out those words, I felt the pain that had wound itself tight around me begin to loosen. As it unfolded, some of it began to edge away from me. I could see it in the glistening eyes of my co-workers as I explained all I knew.

That’s when I realized how many people cared about me and my family. Speaking with them about the yet-to-be-officially-diagnosed condition my daughter had was not unnecessarily burdening them. They wanted to help, to be there. We were not alone in our new reality. There were people willing to lift us up and support us during this difficult time.

When I got home, I told my husband how relieved I felt to share and talk with others, so we made plans to see his parents the next day. Every time we opened up and let people in, our heavy load became a little lighter. We had a long and challenging road ahead of us, but at least we knew we would not have to travel it alone.

By not talking about it, we had given cystinosis more power than it deserved. My daughter is stronger, and so are we — with our friends and family by our sides.