Rare Disease Day Tucson serves as a platform for advocacy and awareness and allows families and caregivers to be connected to resources and find their community. The event will be taking place at the Children's Museum on March 1.
According to the National Cancer Institute, there are about 7,000 rare diseases in the United States.
Cristal Rodriguez has three kids, all of whom have rare genetic differences. Her twins are three years old and are diagnosed with TANC2-related syndrome.
“I knew it was something more than just autism; we were having a lot of developmental delays like walking and talking," Rodriguez explained.
The TANC2 gene helps control the connections between brain cells. According to Simons Searchlight, many people who have TANC2-related syndrome might have autism, intellectual disability, delayed speaking, seizures, and more.
“During this process of getting a diagnosis, I felt very alone and isolated. I had to take a step back and plug myself into a community and understand why it was so important for me to get involved," Rodriguez said. Because this is a rare disease, there is not much research about it.
Her other son has a micro-duplication at 2q24.3. Hence, finding a community to support one another is something Rodriguez cherishes.
“Alone, we are rare, but together we are strong as a community, and I feel like it's important for all of us to come together," Rodriguez explains.
The event will be at 200 S. Sixth Ave. in Downtown Tucson, starting at 9:00 in the morning and will wrap up around 1:00 pm.
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Athena Kehoe is a reporter for KGUN 9, she joined the KGUN 9 team in July of 2024 after graduating from Arizona State University. Share your story ideas with Athena by emailing athena.kehoe@kgun9.com or by connecting on X/Twitter.
