Perspectives of The Pompe World

The rare disease community is vastly diverse. So many of our members have gifts that work to improve this journey in various ways. Some use their story and voice to provoke change with legislators, and some educate and spread awareness about the disease. Some advocate for accessibility and resources, and some of us network to fundraise for various causes within the community. It truly takes a village and every effort makes a difference, big or small. 

One question I believe we have each asked ourselves at some point is, “what can I do?” 

Not everyone has found their niche with a certain project, and even if we have, we can’t always find the time. Many people are truly just trying to keep their head above water while balancing regular life with a rare disease diagnosis, and can’t put anything else on their plate. Often, this can be a source of guilt and creates some unnecessary pressure. There are so many ways you can help within the community without needing a lot of time or a distinguished gift, and no contribution is too small. 

Recently, members of our community partnered with the nonprofit organization Global Genes to create a platform where data can be shared on our own terms. In research, data collected is owned by those conducting the research and often isn’t accessible to other researchers who could also benefit from the information. This can really limit the advancements made in medical research. If people affected by rare disease truly want to get the most out of the data and its benefit to research, we should have a say in where our data goes. Now, we can. 

When you find yourself asking, “what can I do to help?” you can always consider sharing your data to a wider audience. 

RARE-X, the research program of Global Genes, has helped make this possible by partnering with the Pompe community to provide a database for us to share our data at our own discretion, without selling it. Because patients and families own this data, we have the choice of what to share, and who to share it with. 

So how does this help? 

Research needs data. As we know, within the rare disease research that exists, a common obstacle is small sample sizing. Small sample sizing limits the way results can be applied to a broader population. To strengthen the research and its findings, larger sample sizing is incredibly beneficial. By sharing our data through this database, we can improve research not only for the disease close to our hearts, but also for cross-disorder research as well. 

Sharing our stories is a deeply personal thing, and a survey-type database that gives us the opportunity to tell our story discreetly, and on our own terms, is a great way to contribute to the future of this disease. You don’t have to have a special characteristic, talent, or gift. You can complete as little or as much as you’d like and you can come back to do more later if you find a better time. From the comfort of your home (or the chair next to your child during their infusions), you can provide information to researchers that remains owned and controlled by you, and simply by sharing your perspective. How were you diagnosed? How does this affect you? What does your care look like? Questions we answer many times on social media to our friends, we can now answer for researchers who aim to improve our outcomes and accelerate change. So if you’ve found yourself asking, “what can I do?” this is a great option to be an active participant in something that will help so many. 

To get started, create an account on RARE-X today: https://rare-x.org/pompe/.

Additional information and opportunities for involvement can be found by visiting https://pompe.community