Building an online community for people impacted by a rare genetic condition
Gayle Sweeney is on a mission to show people living with cystinuria and their loved ones how to advocate for themselves. She has built a worldwide online community of people touched by this challenging genetic disease.
Gayle has two children with cystinuria. People with cystinuria are born without the ability to properly remove excess cystine from their urine. Because of this, cystine builds up in the urine leading to the formation of a specific type of kidney stone – cystine kidney stones. Cystine stones are typically larger and harder than other types of kidney stones and often require medical procedures to remove.
“My life revolves around work during the day, and cystinuria all evening,” she said.
How it began
Gayle’s oldest daughter Claire was diagnosed at the age of 16. Five years later, Gayle’s son Kaegan was diagnosed. The family felt blessed to be connected early with excellent medical care. Following the diagnosis, Gayle learned everything she could about the condition through Claire’s urology team and the internet, but something was missing.
“I got all the medical answers, but I didn’t get the life answers I was looking for.”
Identifying a need
She saw a gap she could help fill and set off to build a Facebook group for the International Cystinuria Foundation (ICF). ICF is a nonprofit that supports patients, families and professionals by providing educational and health-related resources to individuals affected by cystinuria worldwide. Today, Gayle is the president of ICF and the administrator of ICF’s private online group which has more than 1300 people.
Privacy is critical, and Gayle has a thorough vetting system in place to ensure the group members belong. And when the vetting is done, she sends a message, “Welcome the Caregiver!” or “Welcome the Stoner!” – introducing the new member to the group.
A safe space
The ICF online group discusses their concerns, fears and successes. They assist one another in finding specialists, bringing trusted medical professionals to the platform to educate the group on the disease, research and treatments. Gayle created a safe space for topics such as:
Feeling job insecurity due to an employer finding out about the diagnosis
Feeling guilt over passing on a genetic condition to one’s children
Feeling hopeless because, as a genetic carrier, a parent can’t donate a kidney to their child if their child were to need a transplant
What passing a stone feels like
How to convey in an ER setting that pain meds are required during an acute stone event, and ensuring people with cystinuria are not assumed to be pain medication abusers
Sweden, Cambodia, Zimbabwe, England, New Hampshire – people in the community come from all over to find information and support. Gayle is gratified to be making a difference.
“I can’t cure it, but maybe we can make life better. I think that’s critical.”