According to a story from kdrv.com, cystinosis is a very rare disease that only affects about 500 people in the US. Two of those patients are Emma Suetta and Everly Turner. Emma’s family has taken in upon themselves to help fundraise for cystinosis research. This year will be their third “Lemonade for a Cure” event which features baked goods and other refreshments baked by Emma’s grandmother and her mother Shelly.
Cystinosis is a type of lysosomal storage disease which is characterized by the abnormal accumulation of the amino acid cystine in the body. The disease is caused by mutations affecting the CTNS gene. This disease leads to the formation of cystine crystals in different areas of the body, particularly the cornea. Severe cystinosis can cause major symptoms early in life, such as kidney failure, growth and developmental impairments, diabetes, muscle atrophy, reduced skin and hair pigment, blindness, impaired sweating, and inability to swallow. Treatment of the disease include cysteamine, which can impair the growth of crystals in the body; sodium citrate is also used to control blood acidity. If kidney failure occurs, dialysis and ultimately a kidney transplant are necessary for survival. To learn more about cystinosis, click here.
Finding Support and Managing The Condition
Haven Combs, who is Everly’s mother, met Shelly via Facebook. Since then the two families have bonded over Everly and Emma’s cystinosis and have found critical support through each other. Social media has been a valuable tool for the small cystinosis patient community to get together and help each other. Managing cystinosis for Everly and Emma is an intensive process; the girls are receiving treatment through a feeding tube (called a “G tube”) that leads directly to the stomach. Electrolytes, fluids, medications, and food are all delivered with the tube.
Everly’s G tube is supplied with a backpack that she wears so that she can receive constant fluids and electrolytes. Because of kidney dysfunction, staying hydrated can be a major challenge. Impaired sweating also means that preventing overheating during the summer is critical; most days are spent in the pool.
Want to support cystinosis research? Click here.