Donate for Stella Grace Miller
Our sweet girl, Stella Grace, entered this world a happy and seemingly healthy baby girl on January 30th, 2017. Her first year of life was everything we hoped for and more. She was meeting her milestones as expected and loved learning about the new, big world around her.
Her 12 month wellness check at the pediatricians seemed like a typical visit, however, one thing stood out to the doctor that was concerning. Stella had not grown in height or weight since her 6 month wellness check. Because her big sister has always been little compared to children her age, we weren’t too concerned. The doctor wasn’t too concerned either, as he noted the small stature of the rest of the women in Stella’s family. He asked to see us back a few months later to ensure Stella was in fact growing and continuing to meet her milestones.
March 14th, 2018 will forever be a life-altering day for our family. On this particular day, we visited the pediatrician-learning Stella had not grown and actually lost weight. Many different, possible diagnoses were suggested to us-diabetes being one of them, but ultimately blood work would be the true test to give us clear answers. It wasn’t until that night we received the heart-breaking news. Our baby girl, was in fact in great danger of a serious illness. That same evening, we were rushed to the nearest children’s hospital-where we spent the next 28 days. After many days of testing and lots of blood work, Stella was finally given a diagnosis, Nephropathic Cystinosis.
We had no idea how serious this disease was until we began to educate ourselves. Cystinosis is a terminal metabolic disease in which the amino acid cystine gets into the cells, but has no transporter out. Because of the defect in transportation, the cell crystallizes causing early cell death. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain. Current treatments to slow the progression of Cystinosis require a tough regimen of medicines every hour of every day. The treatments must also be adjusted often based on the results of kidney function, frequent blood work to monitor nutrient levels, eye exams, and much more.
Since her diagnosis, she has begun a rigorous medicine schedule. These meds have improved her quality of life- her muscles are stonger, she’s more energetic, she’s slowly gaining weight-thanks to her gastrostomy tube and she’s beginning to meet her milestones. As we are well aware of the devestation this disease can cause to Stella’s body, we are hopeful she will continue to be a bright, happy, playful little girl through it all-because that’s what she’s been since day one of her diagnosis.
Because Cystinosis is such a rare disease-only 500 diagnosed in the United States (2,000 worldwide), the Cystinosos Research Foundation (CRF) is so important to those living with this disease. The CRF is dedicated to finding better treatments to improve the quality of life for those with Cystinosis and to ultimately find a cure for this devastating disease. This foundation has already done so much for my family and we truly believe this foundation will save our baby girl’s life. Nancy Stack, the founder of the CRF is a positive light in our Cystinosis community and brings us hope for a better future for our loved ones. If you would like to learn more about Stella and others living with Cystinosis, please visit the Cystinosis Research Foundation at www.cystinosisresearch.org