According to a story from ktvl.com, seven year old Emma Suetta, of Etna, California lives with a rare disease called cystinosis, and she is doing her part to help find a cure. She and her family have organized bake sales and released a cookbook to help fundraise cystinosis research. The proceeds from their efforts have gone towards the Cystinosis Research Foundation, a nonprofit organization.
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 cystinosis includes 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.
Fundraising for a Cure
Emma was first diagnosed in 2015 and managing her condition has proved to be a challenge for the family, who must prepare her nutrition and medication for hours every week:
“It’s a different lifestyle having a child with a rare disease, we do food and medication through a g-tube about 10 times a day.” – Shelly Suetta, Emma’s mother
Shelly says that things have been especially challenging during the pandemic since they haven’t been able to have an in-person visit with Emma’s doctor in over a year; a frustration shared by others in the cystinosis patient community as well.
The concept for the cookbook was also born from the pandemic as fewer people in the Suetta’s local community are willing to go out and visit an in-person bake sale. The family has been mailing out copies, which contain many of the recipes that they used to bake and sell themselves. The cookbook is titled Emma’s Wish: Desserts for a Cure.
If you’d like to support the Suetta family’s efforts, contact Shelly at firstname.lastname@example.org.
To learn more about the Cystinosis Research Foundation, click here.