OTTAWA HILLS, Ohio — There are nearly 30 million Americans who suffer from a rare disease.
Rare Disease Day is observed every year on the last day of February to raise awareness for over 7,000 rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.
14-year-old Avalon Budd, of Ottawa Hills, suffers from a rare genetic disease called hypophosphatasia, or HPP. After receiving a breakthrough treatment at the age of 10, she now spends her time helping others facing the same condition.
"Before the treatment, my average lifespan was 27," Budd said, "and now I'm going to live an average life."
A person suffering from HPP lacks an enzyme that delivers calcium to her bones. This leads to weak bones that are susceptible to breaking and fracturing from simple, everyday tasks.
"Before treatment, I could not run, I could not jump," Budd said. "I broke bones extremely easily, for example walking down the stairs, stepping wrong the stair would break my foot and my bones don't heal so I would be in a cast for eight months."
At age 10, she began enzyme replacement treatment (ERT) and now lives life like any other teenager. But she saw something during her treatments that inspired her to take action.
"I came to the realization that there were other kids that were younger than me that were going to be going through intense pain that this treatment held," she said, "so I wanted to help them."
The Avalon Foundation provides mental, educational and emotional support to kids fighting HPP with its signature pain box program, inspired by Avalon's grandmother. She created it to help Avalon get through her painful treatments when she considered quitting.
"With the help of our professional professionals," Budd said, "we make boxes full of incentives to help keep them compliant with their treatment."
The foundation has helped 30 families since it formed in 2017. Avalon's mom, Deborah Ayers, stressed part of their mission also is to assure that people with any rare disease are accepted and treated like everyone else.
"Our particular program really focuses on the ability to have compassion and to just be understanding," Ayers said, "and to be kind to each other whether you can see the disability or not, everybody has their own story."
Currently, the organization only helps those with HPP. But the group is looking for more donors and volunteers so it can branch out and help other rare disease communities.
If you are interested in helping out, you can visit their website by clicking here.