Why Give RARE?

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Give RARE Day UPDATE:  SAVE JON is the proud winner of both the 2015 Give Rare Day Social Media Grant and the 2015 Rare Disease Month Promotional Grant!  Many thank to our Give Rare Day donors, those who promoted our posts on social media, all of our supporters, and our hardworking staff.  We are proud to raise awareness for rare disease patients, including our own.


 

Give RAREToday, March 3rd, SAVE JON is participating in world Give RARE Day. This is an opportunity for you to give your support to us and other RARE disease non-profits as we come together to work towards cures for rare diseases. Every donation we receive through our Give RARE page will help us qualify for both corporate donor matching and large donations from corporate sponsors. You can also help us by using the appropriate links on our Give RARE page to share it through social media. Every social media share could earn us around $18! Not bad for a couple of clicks, right? But hey, we are scientists here, and we couldn’t ask for your support without providing you with some rationale for our cause. So, read on to learn why your support matters so much, not just to us but also to the future of healthcare in general.

First, let’s address the white elephant in the room. If rare diseases are so rare, why should we care? For starters, rare diseases aren’t as rare as you might think. The most commonly used cutoff for what constitutes a “rare” disease is something that affects less than 200,000 people. As we have mentioned in the past, collectively almost 30 million Americans are affected by rare diseases. That’s a pretty large chunk of the population suffering from under-researched conditions, and about half of those people are kids. For all the money we plug into biomedical research – $120 billion per year just in the US – shouldn’t we be living in a society that serves the needs of patients suffering from all diseases?

But, you might say, shouldn’t we first focus on researching more common diseases such as arthritis, diabetes and cancer? Well, even so-called ‘common’ diseases are not always so common in terms of what causes them and how we can treat them effectively. Think of all the different types and subtypes of cancers there are, each with complex multifaceted causes. There isn’t even a “one-cure-fits-all’ for some cancers that affect the same tissues. Breast cancer is a great example: you might know three different women who’ve had breast cancers and been treated with three different combinations of surgery, radiation, and chemo. We are gradually learning that we need to use new patient-specific approaches to cure many diseases that we used to think of as one-cure-fits-all.

No matter how they are defined, rare diseases represent the pinnacle of patient-specific illness, from the “ultra-rare” where perhaps 100 people are known worldwide to have the disease, to something more “medium-rare” like PSC, which affects between 30,000 and 50,000 people in the US. If we can figure out a timely strategy to cure rare diseases that present very specific and uncommon problems, we can apply this strategy to patients suffering from ‘common’ diseases that manifest somewhat differently in different individuals and/or are complicated by other elements of an individual’s health. The clear need for building such a strategy is illustrated by the fact that we in the medical community and in the biomedical research system are able to offer so few options not only to rare disease patients, but often to patients with better-known diseases that are more thoroughly researched and understood. A moving story from journalist Laurie Buckland recently articulated the consequences of this gap and highlighted why and how we need to build better research strategies. At SAVE JON we regularly hear from both clinicians and scientists in the lab who want to be able to do more for patients, but face barriers to progress.

Rare diseases represent a bar we need to reach in our healthcare system. Rather than being reactive, we need to become proactive. Figuring out a strategy to treat rare diseases, which often emerge unexpectedly and on which we have little background knowledge, serves as model for approaching new diseases that may impact large populations in the future. When new diseases or chronic conditions emerge as public health problems, we are slow to react. Imagine if funding, open communication and avenues for collaboration were all readily available for our world’s best and brightest minds to tackle a new health emergency when it arises? The reality is that they are not. Instead, our best scientists are often in competition with each other for funding, and collaborations are sometimes hindered by bureaucratic red tape. Meanwhile, our pharmaceutical industry gets a bad rap for being driven by profits, but faces many of the same difficulties our academic colleagues face when it comes to rare disease: how do we bring together large numbers of patients to do trials? How do we justify going after problems where the return on investment is not clear? How do we make sense of complexity? This means that the most approachable – not necessarily the best – scientific studies and and drug development programs are pursued, leaving many patients with little hope for cures. In short, the system needs to change to serve patients. For all the innovation that has blossomed in the last century, shouldn’t we be able to do our finest work in someone’s hour of need? This is the backbone of our research strategy at SAVE JON.

By giving rare and sharing, you are supporting the change we need. Thank you.


Give RARE Day UPDATE:  SAVE JON is the proud winner of both the 2015 Give Rare Day Social Media Grant and the 2015 Rare Disease Month Promotional Grant!  Many thank to our Give Rare Day donors, those who promoted our posts on social media, all of our supporters, and our hardworking staff.  We are proud to raise awareness for rare disease patients, including our own.


One Comment on ““Why Give RARE?”

  1. Florence Downes

    Wonderful information! I would love to know more about Jon and all the Boyettes – one of my favorite families during my 20 years at GHS!
    Miss you!

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