It’s Rare Disease Day 2019! In this blog post, Worldwide Clinical Trials employee Jackie Brusch talks about her uncommonly rare disorder, what she wants people to know about rare diseases, and how Worldwide is advancing rare disease clinical research.
Show your rare. Show you care. That’s the slogan for this year’s Rare Disease Day campaign.
I show my rare every day. I was born with spina bifida, so I’ve had my rare disorder for my entire life. And it shows. I walk with crutches. I have a leg brace. And, as a result of my spina bifida, I developed scoliosis and kyphosis at age 10, which means my back protrudes. There’s simply no hiding my rare.
I’m a positive person. I try not to take a single day for granted. My family, career, friends, and two cats make me feel grateful and truly happy. But, when it comes to seeing doctors, taking medication, or undergoing procedures, I’m different. I’m scared. Worried. Anxious. For people with rare diseases and disorders, there’s a whole medical world that most people don’t ever experience.
A Quick Lesson on Rare Diseases
According to RareDiseaseDay.org, “A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2,000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.” And, according to the CDC, each year, about 1,645 babies are born with spina bifida.
That’s the clinical definition, and although clinical data is vitally important for researchers, it’s equally important to get the personal perspective of patients living with these diseases and disorders, of which there are about 6,000 today that affect over 300 million people worldwide.1
What I Want You to Know
As a child and even today, as a 30-year-old woman, I often surprise medical professionals.
The doctors told my parents a lot of things that did not pan out to be accurate: I wouldn’t be able to be potty-trained, I may have learning disabilities, and the list goes on. This is where clinical researchers can do better. They simply need to listen to patients. Get inside their world and make decisions that are most suitable for them.
Being Rare Comes with a Price Tag
I’ve gone through about 10 expensive surgeries, mainly for my back and foot. My parents and I have incurred significant health and care-related expenses for travel to attend countless doctor appointments, medical equipment fittings, prescription medications, and more.
The point is, when you’re uncommonly rare, you end up paying a lot of money to get the highest quality of care and stay healthy.
So, what can you, a clinical researcher, do for those living with rare diseases?
Rare Disease Day’s 2019 Theme: Bridging Health and Social Care
In the description of the theme for Rare Disease Day 2019, I found this paragraph:
“Organizing care can involve researching local services, making phone calls, accessing treatments and rehabilitation, handling administrative procedures, and adapting the home or work space. As a consequence, people living with a rare disease are often off work or school. It becomes a complex and frustrating process, especially when a lack of coordination across services means having to repeat the same information over and over again. Communication between different services needs to improve so that services are delivered efficiently to meet patients’ best interests.”
I couldn’t agree with this more. Planning care is cumbersome. I see my specialty doctors annually – one day a year – and there is a dedicated person in the office who simply organizes patient appointments because the doctors’ schedules are so busy, and patients are visiting for a full day of routine care.
Bridging the Gap: Approaching Rare Diseases with Tenacity
I’m honored to work for Worldwide Clinical Trials, where rare diseases and disorders are a key therapeutic focus. We are tenacious in our fight to help bring joy into the lives of those living with painful, cumbersome diseases. We work tirelessly every day, around the world and around the clock, to communicate with pharmaceutical teams so that patients don’t have to suffer with another aspect of their care. We want to make clinical trials easy for patients. And we do, with several strategies tailored to your specific study, patients, and protocol.
I have personally worked alongside Worldwide’s medical, operational, and leadership teams and they bring a wealth of expertise to every trial we conduct. They know these diseases in and out. They can help you plan your trial in a way that recruits and retains the rare patients that you need to advance medicine.
Are You Ready to Show Your Rare?
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