The challenges we face

With another Rare Disease Day arriving, I feel compelled to talk about the challenges that we can face as a rare disease population coming from my own experience. It’s no secret that we face many challenges in many ways from systemic to personal, and that is why rare disease awareness is so incredibly important.

Misdiagnosis/Undiagnosed

My rare disease journey began with many unanswered questions – no one knew what I had including the medical professionals. All that was known is that I looked different, but no one could pinpoint the cause of that or what those differences would mean for me and my growth. My mom raced from doctor to doctor in various states to find a diagnosis. Because without a diagnosis, there were no answers to those many questions. Without a diagnosis, treatments are highly limited, and any treatments attempted were basically experimental.

Eventually, I was diagnosed with a syndrome, but the doctors even told my parents they weren’t confident it was an accurate diagnosis – it was just the closest diagnosis they could find based on my symptoms. They basically told my parents that I “had my own thing.” Which, to be fair, was true – I did have my own thing, and it was called CLOVES Syndrome. It just wasn’t discovered yet.

Having a misdiagnosis is challenging as well because you still haven’t found the correct diagnosis and still don’t have accurate answers. Even treatment options are impacted because treatment is different for different syndromes.

This didn’t stop my mom though. She continued searching for answers. It wasn’t until I was around 14 when we finally got word that I had a diagnosis, and it was CLOVES.

Looking back on this time, it breaks my heart to imagine how stressed my parents were going without answers for 14 whole years.

Being misdiagnosed and undiagnosed are very common experiences among the rare disease population. With how rare our diseases are, they might not be discovered yet, aren’t being studied yet, or they are being studied but conclusions just haven’t been drawn yet. A particular disease might be difficult to diagnose because of the lack of available information or how rare the symptoms are.

The zebra is the mascot for rare diseases because in medical school, students are taught to think “if you hear hoofbeats, think horses, not zebras.” So they are taught to think of common causes for symptoms instead of rare ones. While I’m not arguing that this lesson is wrong, it can make it difficult for rare diseases to be diagnosed because sometimes it is a zebra, not a horse.

Having trouble with getting a correct diagnosis can leave a lasting, negative impact on those affected. Not having a correct diagnosis means not having answers.

What do I have? Why do I have this? What does my future look like? Is there a cure? Are there treatment options? Will I be okay?

Those are just a few questions that may cross the minds of people in this position. It is worrisome and stressful, not to mention exhausting trying to find answers to those questions. Bouncing around various doctors, doing your own research, traveling to various medical teams who might have some small sliver of insight on your condition, all on top of living with that condition. How unbelievably overwhelming.

Not to mention, the lack of community. Not having a diagnosis means you might not know anyone else who shares your condition. This can be so incredibly isolating. I remember that awful feeling wondering “why am I the only one like this?” Finding community within others who share your diagnosis can be really uplifting and helpful in the rare disease journey, something I’ve learned in my own journey. So you can imagine how challenging it is to not have that.

Lack of Adult Providers

Another challenge I’ve been facing in this stage of life is managing my health through pediatric teams and navigating transitioning to adult care. This is another common challenge in the rare disease space as 70% of rare genetic diseases are diagnosed in childhood (source: rarediseaseday.org) so specialists tend to be pediatrics. But growing up as a child, no one really broached the subject on what will happen once I’m an adult. The good thing about this though is that the pediatric teams who know me are still willing to follow me so this asset hasn’t been lost, but that might not be the case for every team. And there still might be other adult providers we need to transition to as we age out of the pediatric teams. For me, this was finding a new PCP, orthopedic doctor and surgeon, and neurologist. This transition was a little scary as I wondered how will I find a good provider ready to learn about my disease? And if they aren’t a good match, I’ll have to keep searching, and that just sounds exhausting.

When I’ve connected with these new doctors, I’ve had to educate them on my rare disease. We want to follow with a provider who is willing to learn about our rare disease, listen to our story and complaints, and truly engage with us to provide not just care but good care. We might encounter doctors who aren’t willing or equipped to do that so searching for the right one might be tough.

Treatment

With how rare rare diseases are, there often isn’t enough research done to understand them, their causes, and find treatments for them. There are so many rare diseases out there, and all of them need that research to make progress in finding treatments. The lack of visibility for certain rare diseases may prevent research from being done as research requires funding. Not all rare diseases may have the resources needed to access that research. Because of this, treatment options may be limited or nonexistent.

I don’t think I have to say that having little to no treatment options is a significant challenge. Treatments can help us achieve a better quality of life. Even if there is no cure for the disease like CLOVES Syndrome, having treatment options to mitigate the negative symptoms we have can at least help us live our best lives.

This is why rare disease awareness is paramount: it can help us gain visibility for rare diseases that may in turn lead to obtaining funding for research and other supportive resources within the community.

Rare Disease Day isn’t just the last day of February – it is every day for the 300 million people worldwide diagnosed with rare diseases. We fight these battles every minute of every day. Advocacy doesn’t stop outside this one day of the year. It continues every day within this rare disease community.