According to a story from Shawnee Mission Post, the nonprofit organization RareKC is working to support people with rare diseases that are living the Kansas City area. When living with a rare disease, it is easy to feel isolated and cut off, as it can be hard to find others who understand the challenges. organizations like RareKC bring rare disease patients together to build a sense of community and advocate for the underserved rare disease patient population.
Ainsley’s Story
Take the story of five year old Ainsley Bridges. From her appearance, she seems like a healthy and active five year old; she loves swimming, gymnastics, and ballet. However, parents Mindy and Justin have to manage Ainsley’s diet very precisely; if they don’t, she could suffer severe brain damage. This is because Ainsley has a rare condition called phenylketonuria (PKU). This disease is the result of a mutation that prevents her from producing an enzyme that is responsible for the breakdown of phenylalanine. Without a strict diet, the substance could accumulate to high levels and result in mental disorders and intellectual disability. Read more about phenylketonuria here.
Managing Ainsley’s diet is a challenge for her parents, who must weight her food every day to make sure she is not exceeding her daily limit of protein, which is just seven grams. In addition, they must order all of her food online. RareKC has helped the Bridges family feel a sense of community, belonging, and understanding. It can be a frustrating ordeal trying to explain Ainsley’s condition to other parents and teachers.
A Broader Impact
Around 30 million people in the US, or about ten percent, have a disease that is considered rare. In addition, about half of rare disease patients are children. Of that group, thirty percent will not survive to see their fifth birthday.
As part of its efforts to engage the rare disease community in Kansas City, RareKC plans to host its first “Reach for Rare” event September 16th. The event will include a pickleball tournament as a fundraiser, and will also serve to help spread awareness about the rare disease community and the activities of RareKC. To learn more about this event, click here.
