Recently, I had the opportunity to discuss Rare Diseases and the challenges faced by those with rare diseases on CBS 9 – KCAL in Los Angeles. Rare diseases, though individually uncommon, collectively affect a staggering 300 million people worldwide.
Understanding this complex issue and finding the right support can be a daunting journey. Here, I’ve broken down some key points from our conversation to help you navigate these challenges more effectively.
What Is A Rare Disease
Firstly, let’s talk about what a ‘rare disease’ is. While the name might suggest that it’s something not many have, around 5 percent of the population are indeed affected. When you do the math, that’s about 300 million lives. Interestingly, 70 percent of these diseases are genetic, while the other 30 percent are influenced by our environment.
While each rare disease is its own beast, many of us on this journey share similar experiences. These conditions may be called ‘rare’, but many people are dealing with their impact every single day. One of the trickiest aspects of these diseases is that they don’t have common symptoms. They’re pretty diverse, but there’s a shared journey most patients follow. You might feel like you’re the only one, and sometimes, getting people to listen can be tough.
Trusting Your Gut and Advocating for Yourself
Getting to the bottom of a rare disease can be tricky because there’s no one-size-fits-all symptom list. Instead, what’s common is the journey. It often starts with symptoms that are hard to pinpoint—vague, evasive, and incredibly frustrating. And because these symptoms aren’t well-known, you might find yourself feeling like a puzzle that no one can solve. You might have to knock on several doctors’ doors before finding someone who listens. It’s tough, I know.
This can make anyone frustrated, and it’s why you’ll often hear me say ‘trust your gut’ and ‘learn to advocate for yourself’. Your intuition is your best friend in these situations. Your family might doubt you, your providers might doubt you, and don’t let that become a self doubt for yourself. Remember, you know your body better than anyone. Trust your gut and keep going until you get the answers you deserve.
You’re Not Alone
Feeling all by yourself is common, especially when you’re up against something rare. You might think that your struggles are going unnoticed or that no one cares, but that’s not true. But here’s what I want you to hold onto: you’re not alone.
You’re not alone in feeling dismissed. You’re not alone in that you’re being dismissed and that I just want you to know don’t take that personally. It’s because people are not aware. So you’re not alone there. It’s not against you.
It’s kind of what happens from a lack of awareness, but you’re also not alone because there are a lot of patients and providers who hear you and see you. So keep going.
Final Word
Remember to trust your instincts, advocate for yourself, and never forget that you’re not alone on this journey. After all, knowledge is power, so let this information guide you, keep you strong, and most importantly, give you hope. Your health, your happiness, it matters. You matter, and your journey is valid. Everyone deserves to be heard, to receive the care they need, and to live a happy and healthy life. Check out my full interview here.
