Ever since her daughter was diagnosed with a rare genetic disease, Sycamore Ridge first-grade teacher Julie Cunningham has been an advocate for finding treatments to help those who have been diagnosed with rare diseases.
She helped lead a fundraiser at Amici’s Ristobar on Feb. 28 for Rare Disease Day that collected $500 with support from local residents and businesses.
“We were just really thankful, and we plan to continue and grow,” she said. “We want to expand it to more of our school district and our local community.”
A disease is considered rare if it affects less than 200,000 people, according to the National Organization for Rare Disorders. Cunningham’s daughter Katie was diagnosed with Cryopyrin Associated Periodic Syndrome, commonly referred to as CAPS, when she was 14 months old. The disease causes inflammation that leads to fever, headache and other flu-like symptoms, along with rashes. Approximately 1-2 per 1 million people in the U.S. are affected by CAPS, according to current research, but difficulties in diagnosing it mean that the actual number could be higher.
Katie, now 10 years old and in fourth grade, has received treatment to counteract the effects. She attends school at Sycamore Ridge with her twin sister.
But approximately 95% of rare diseases do not have FDA-approved treatment options, according to the nonprofit and advocacy group Global Genes. There are 7,000 types of rare and genetic diseases, and it takes an average of nearly five years for patients to receive a diagnosis. Half of all people diagnosed with rare diseases are children, and about 30% of children with rare diseases don’t reach age 5.
The Rare Disease Day event at Amici’s was in support of the Tango2 Research Foundation. Tango2 is a rare genetic disease that often begins with symptoms such as poor coordination, eye issues, and cognitive and physical difficulties. About half of all known rare diseases do not have a foundation or research support group, according to Global Genes.
Veronica Jones, who also teaches at Sycamore Ridge, serves as the treasurer of the Tango2 Research Foundation. Her daughter, Thea, was diagnosed with Tango2 after first showing symptoms when she was 18 months old.
The Rare Disease Day event included a raffle drawing where attendees could win gift cards and other prizes, and drink special “Care about Rare” blue cocktails.
“It’s just been a good event to raise money, and people are supportive,” Cunningham said.
For the sixth time, Sycamore Ridge hosted a spirit day with students wearing “Jeans for Genes” and making posters. Rare Disease Day supporters also wear Denim Genes Ribbons.
As part of her advocacy, Cunningham traveled to Washington, D.C., in 2013 and joined a group that met with U.S. Sen. Dianne Feinstein and former U.S. Rep. Darrell Issa. Along the way, she’s met plenty of others who are pushing for advancements in treatment for rare diseases.
“It’s a close-knit group of people you otherwise wouldn’t meet,” Cunningham said. "... You just have a shared commonality, you’re bonded in a way you wouldn’t expect.”