A lack of awareness is a problem that many rare diseases face. Small patient populations, limited research, and other factors all play a role in this issue. Luckily, there are many dedicated patients, caregivers, loved ones, and organizations that push to raise awareness for these rare disorders. One family from Springville, Alabama is doing just this.
The Coles recently held a walk to bring attention to Okur-Chung neurodevelopmental syndrome (OCNDS), an extremely rare condition that affects two family members: 4-year-old Adelynn and her father.
About the Walk
Held in Lakeside Park, the walk was attended by friends and family members of the Coles, alongside members of the Pell City Line Dancers. Everyone gathered to raise awareness and support research for the rare neurodevelopmental condition. They also provided love and kind words to Adelynn and her family.
The Coles organized the walk after Adelynn was diagnosed, making her the only child in Alabama with OCNDS. However, the walk is not just for Adelynn but her father as well, who discovered he had the condition after the family underwent genetic sequencing following Adelynn’s diagnosis.
While there are many challenges that can come with a rare disease diagnosis, Adelynn’s mother Kelsey named education as the largest obstacle. Because OCNDS is so rare, few people have even heard of it. That’s why the family organized the walk. Through it, they can raise awareness – along with money – to support this rare disorder. In fact, all money raised at the event will go to the CSN2AI Foundation, an organization focused on research to understand and treat OCNDS.
You can read more about the walk here.
About OCNDS
Okur-Chung neurodevelopmental syndrome is an extremely rare, genetic disorder caused by mutations of the CSNK2A1 gene on chromosome 20. While this mutation typically occurs sporadically, it can also be passed down from parent to child. If this is the case, it is inherited in an autosomal dominant pattern. It causes symptoms such as:
- Global developmental delay
- Seizures
- Hypotonia
- Microcephaly
- Issues with coordination
- Delays in speech or no speech development
- Learning disabilities
- Feeding difficulties
- Constipation
- Heartburn
- Behavioral challenges
- Vision problems
- Structural abnormalities in the brain
- Misaligned teeth and cavities
- Minor infections of the lungs and ears
- Minor deformities of the vertebrae
Because this condition was newly discovered and so rare, there is minimal research and no cure.
