Research is key

Advocating for CLOVES Syndrome doesn’t just mean advocating for the individuals and families affected. It also means advocating for stronger efforts to further research on the syndrome and the advancement of medical treatments in order to address the needs of those affected. With more of this, those with CLOVES have more of a chance to manage their disease and live healthier, happier lives.

Research and awareness go hand in hand. Without awareness, we can’t get very far with research. And without research, the effort of spreading awareness can seem futile. Rare diseases desperately need both of these things in order to make any progress in medical treatment and improve the livelihoods of those affected. Awareness is so incredibly important so that we can not only tell the world about the realities of people living with rare diseases but so we can also articulate to the public and decision makers that we need more research to expand medical options for those living with these diseases.

When a disease is rare, little is known about it. Sometimes a disease is so rare it can’t even be identified yet–people who live or have lived with something like this may have gone a very good portion of their lives living with medical problems they didn’t know anything about.

How scary is that? You constantly have medical challenges that may interfere with your everyday life, go to the doctor, get tested, and no one can tell you what is wrong. This limits your options and access to treatments. Not only that, but people living like this may feel isolated because they are enduring something that they think nobody else understands. I personally thought I was the only person in the world with this odd syndrome before I was diagnosed. It can be very debilitating both medically and emotionally.

And even when a disease can be identified, it may be so rare that no one really knows how to treat it. Due to their rarity, there is very little known about the thousands (at least 7,000 to be exact) of rare diseases out there, hindering the ability for the patient to receive the necessary medical treatment. It can be very hard living like this for the 350 million people diagnosed with rare diseases worldwide.

Let that number sink in a little.

With CLOVES, many people went most of their lives without an official diagnosis, either thinking they had some other disease or simply just did not know what they had. I certainly did. I lived until I was 14 years old until I finally received an official diagnosis. I lived most of my life thinking I had Proteus Syndrome, but my mother was never really quite convinced of that so you can say I pretty much lived those 14 years not knowing what was wrong with me. This created endless questions not only for me but for my parents as well, causing stress about the unknown. What do I have? Why do I have it? What can we do to ease my symptoms, if anything? Will it get worse? Is my lifespan affected?

Every person living with CLOVES and every family who has a loved one with CLOVES most likely spent a good portion of their lives asking questions like these. It can be really, very hard. And that is why research is so incredibly important. Though it took some time, researchers were finally able to study the patients affected and their symptoms to come up with an official, comprehensive diagnosis.

And wow. What a rush of relief it was to finally have an answer.

I’m talking about research today because without research, we would be nowhere in finding answers for the many rare diseases out there. Without it, CLOVES may have never been discovered. Research can lead to the much needed finding of treatments, possible cures, and the overall understanding of the medical problem someone is living with. While we still have a ways to go in the treatment of CLOVES, that initial discovery was groundbreaking for all of us diagnosed.

Having that relief of finally identifying the medical disorder a person has is more important than most may think–it’s practically life changing. No more questions, no more wondering, no more fear of the unknown. You can finally have the answers you were looking for and receive the help you need (possibly, hopefully). None of that would be possible without research.

As I’ve said again and again, raising awareness is so essential in getting the necessary research done to help treat people with rare diseases. We need the world to know. For CLOVES Awareness Day today, I advocate for CLOVES Syndrome and will continue advocating until we find more and more treatments available for patients. While we have a diagnosis, we are still so rare that treatments are very limited to this day. Countless patients and their families continue to struggle with the hardships that come with CLOVES Syndrome.

With awareness, we are able to share our stories with the world, support our loved ones living with this syndrome, and create the opportunity for more research so that patients with CLOVES have the treatment options they need to live full, healthy lives.

I said it before and I’ll say it again and again until substantial progress is made and continues to be made in the treatment of CLOVES: research is key.

 

Statistics from: https://globalgenes.org/rare-diseases-facts-statistics/

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