It’s been almost 10 years since our youngest daughter, Emma Grace, was diagnosed with Cystinosis. She was born a happy, healthy, tiny little girl. At 18 months old, she was drinking 2 1/2 liters of water a day, and she weighed only 16 lbs. We took her to the doctor, suspecting diabetes. Her blood test came back normal with no diabetes, but showed some abnormalities in her bones.

The doctors ran more tests and X-rays and then told us she had bone disease. We live in a very small town in an extreme area of northern California where our doctors were not sure what to think about her case, so we were referred to a specialist in San Francisco, which is seven hours away. Within a couple of weeks, we were at our first nephrology appointment, and didn’t even know what a nephrologist was. We learned a lot of new words that day, including kidney disease, Fanconi syndrome, and rickets. We were told that we needed one more blood test, but the doctor needed to determine where to have the test done.

With heads spinning, we were told that they wanted to admit Emma to the hospital for a few days to start her medication and get her blood leveled out. All of this because she drank too much water, was all I could think. We spent a month in the hospital, where they immediately gave her a PICC line, a nose tube, and scheduled surgery for a gastrostomy tube, all foreign things to us.

They had done a blood test for a disease called Cystinosis.

On June 17, 2015, our diagnosis of Cystinosis was confirmed. After many emotional days, we were lucky enough to connect with another family that had the same disease. Amazing, since there were only 500 others with this disease in the United States, we immediately connected on Facebook with several Cystinosis groups and other families affected by the disease. We wouldn’t be where we are today without the help of all the other Cystinosis families. Emma has found her best friend in the world in our Cystinosis community; her name is also Emma, and having the same rare disease, they feel a deep connection.

After ten years living with this disease, it has become a normal routine for us. Emma is on ten medications daily. At 12, she still gets most of her food and meds via her G-tube. But she has a huge love for food and cooking and wants to be a chef!

We wouldn’t be where we are without the Cystinosis Research Foundation and Nancy Stack, who reached out to help as well. Nancy and her husband, Jeff, started the CRF with the purpose of finding better treatments and ultimately a cure for Cystinosis. Every penny donated is put towards research for a cure and a better life for our sweet Emma and all others who fight Cystinosis. We are confident that there will be a cure for Emma in her lifetime, and we will not give up until we find it. A dollar donated is a dollar more for research and a chance at a better life for so many. Laughter gives you reason to hope. Tears give you a reason to fight.

The Suetta Family