In the United States, a disease is considered rare when it affects fewer than 200,000 people nationwide. They’re often unintentionally misdiagnosed and misunderstood, which can lead to treatment delays or uninformed decisions. Established in 2008, Rare Disease Day helps to bring awareness to the need for research and early diagnosis.
For many people with rare diseases, the key is early intervention. Without a diagnosis, however, those affected may continue to struggle, feeling isolated and left behind.
Abi Studer, an EverDriven team member, has twin daughters who are affected by a rare disease known as Fragile X. Fragile X is the leading known genetic cause of autism but can present in different ways, even for identical twins. Luckily, Abi was aware of her carrier status before her twins were born so their early diagnosis was as simple as a blood test.
“That diagnosis, at only one week old,” she says, “has been critical in helping our girls receive the services they need to keep up with other kids their age. We were able to get them started with physical therapy at nine months old. Other kids were already sitting and crawling on their own, but our girls needed some extra help that we weren’t trained to give them.”
Early interventions in speech were also crucial. “We started working with a speech therapist when they were just about a year old,” she continues. “While other kids were saying mama and dadda already, it was something they needed just a little bit of extra help to do. Now that they’re just over three, we can’t seem to get them to stop talking! It’s still not all completely understandable, but we’re getting there.”
Those two plus years of speech and physical therapy, even via Zoom because of the pandemic, were critical in the development of these twin girls, and in helping their family understand how to continue to help them when they turned three and their services stopped.
“Not everyone is as lucky as we have been,” Abi says. “There are families all over the world who don’t have access to early intervention services, let alone healthcare for an early or even on-time diagnosis, and what they do have access to doesn’t always know about their disease. Rare Disease Day helps bring awareness to those families and the services and research needed to help them.”
There are over 300 million people directly affected by rare diseases worldwide, and at least 70 different ways across the United States to get involved. Some are even virtual. It doesn’t take a lot to learn more and help those in our own communities. Bringing awareness to rare diseases is something we can all participate in simply by asking questions and seeking information. And, as difficult as it may seem, being open about the things that affect our own families can help others find the answers they’re looking for.
Here are a few links that can help you learn more and help bring awareness to rare diseases and early intervention: