For Healthcare Professionals
Person on hill alone at sunset

Multiple Myeloma

Life with a rare disease

Experiencing serious health challenges is difficult enough - having a relatively unknown condition adds additional complexity

Rare disease is defined as a condition that affects less than 200,000 people. There are an estimated 7,000 medical conditions that fit this description. Though millions of people experience life as a rare disease patient, the journey can feel lonely. It is hard enough to learn you have a medical condition, but for someone diagnosed with something classified as "rare," it is a double whammy. Not only do rare diseases tend to be more serious in nature, there are typically fewer treatments available.

On the positive side of a rare disease diagnosis, many patients and their loved ones feel relief. Often the path to learning the name of one's condition involves new providers, ongoing testing, and mis-diagnoses. In medicine there is an adage that when doctors hear hoof sounds, they think horses, not zebras. So finally getting to a diagnosis can bring some sense of closure, that there was an answer to be had and now an appropriate treatment plan can come together.

So what might a plan of action look like for someone newly diagnosed with a rare disease? A good place to start is with online research. Start with the basics of the disease and then look into advocacy and support groups, physician specialists, research centers, and promising therapies in development. Social media users may want to follow or connect with leaders and influencers related to the condition of interest. This, along with registering for newsletters from relevant organizations, makes it easier to curate and ingest news without spending time looking for it.

It is also important to feel as if there is a comprehensive team in place for patient support. It can be emotionally overwhelming to take in a lot of new information; who can help? Sometimes a family member with a clinical background can be a good resource for helping to parse through information. It can be difficult to open up and share the diagnosis news, but often personal connection to illness is how we come to learn about it, and how a disease gets on our information "radar screens." And with this greater awareness comes empathy.

Looking to the future of rare disease therapies, better understanding of genetics over the last decade has been integral to the identification of disease processes. This has enabled the discovery and evaluation of new treatments, giving hope to patients and fodder for advocacy groups to support their needs. If you are interested in learning more about clinical research for rare forms of cancer, take a look at trials that are currently seeking participants by clicking here.

Published Date July 08, 2024

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