Emma Suetta's Story
It’s been four years since our youngest daughter Emma Grace was diagnosed with Cystinosis. She was born a happy healthy tiny little girl. She always hit all her milestones on time until it came to walking. At 16 months when she still wasn’t walking, we questioned it but were told she was just cautious and we agreed that was probably the case. The doctors said she was small but we are small and so was our oldest daughter Lilly so we didn’t think anything of it, though she had really not grown at all since 12 months.
Around the same time we started to notice that she was drinking excessive amounts of water and was always so thirsty. She wasn’t sleeping well because she needed water all night. By 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 again 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 at that point we were referred to specialist in San Francisco which is seven hours away. Within a couple 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, kidney disease, Fanconi Syndrome, and rickets. We were told that we needed one more blood test but the doctor needed to find out where to do the test.
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 and we were told not to look it up on the internet till we knew for sure. When you’re in a hospital all day every day for a month, you really have nothing to do but research your new life and what the future will hold for your child.
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 U.S. We immediately connected on Facebook to several Cystinosis groups and all the other families out there. We wouldn’t be where we are today without the help of all the other Cystinosis families.
After four years living with this disease it has become a normal routine to us. Emma is on ten medications daily. At 6, she now does her own eye drops that she needs to keep her eyes crystal free. She receives medications and all her food every few hours of the day through her G-tube, using 32 syringes a day. We learn more all the time with Emma and how to best keep her healthy. We are a part of a whole new family, our Cystinosis family.
We also found 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 that fight Cystinosis.
We are confident that there will be a cure for Emma in her lifetime, and 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