To the Newly Diagnosed: Top 5 Things You Should Know

May 14, 2024

by Shannon Bennett
RARE Concierge Patient Navigator, Global Genes

1. You Are Not Alone

Being told you have a rare disease can instantly induce feelings of isolation. Rare means uncommon, which can understandably make you feel alone. However, the reality is quite the contrary. There are over 10,000 rare diseases affecting some 400 million people. Broken down, this means roughly 1 in 10 individuals has a rare disease. Even if the same condition isn’t shared, the thematic elements are fairly universal throughout the rare disease community. You are unique, you are strong, but you are NOT alone.

2. Find Your Tribe

Many rare diseases have patient advocacy groups already established and it’s incredibly valuable to join these communities to gain support, understanding and the ability to crowdsource creative solutions to rare issues. I call this finding your tribe. With any luck, this community will become an extension of your family and you will walk arm and arm through your rare disease journeys together. For ultra rare conditions without an organization, you can start your own, and in time your tribe will find you. The information, recommendations and support you may gain from this collaboration can also help inform your decisions when building a medical team you trust. I cannot stress how important this step is, because many rare diagnoses will require several different specialists and it’s critical that you choose providers who remain curious and committed to learning about your rare disease.

3. Research Responsibly

Receiving a rare diagnosis may make you want to hop on Google and read everything you can find on your condition. I would strongly caution you here, and advise you to only gather information from reputable sources that have been vetted and can be trusted. This can be difficult when faced with a lack of available information, but it’s still important to stick with trustworthy sources like major medical institutions, PubMed, Orphanet or OMIM.

4. Burnout is Real — Give Yourself Grace

It is no secret that having a rare disease or caring for someone who does, can have a significant impact on mental health and quality of life for all involved. Endless advocating, researching and adapting to symptomatic impacts of a rare disease is enough to cause high levels of stress in anyone, but coupled with a lack of understanding and belonging can be a perfect storm for burnout. Signs of burnout include an increase in anxiety, reduced desire to do the things you enjoy or feeling withdrawn. Remain self aware and reach out for help if you notice these symptoms. It’s okay to not be okay sometimes, living in the world of rare disease truly takes a village.

5. This Will All Make More Sense Eventually

It is overwhelming, even disorienting to receive a rare diagnosis for yourself or someone you love. The medical providers you look to for guidance and support may have never heard of your condition before and perhaps advocating in a medical setting is a new experience for you. This can be scary and again very isolating. Global Genes’ RARE Concierge Patient Services is here to help you find your way. Our team has a blend of scientific and lived experience, as well as a passion for helping our rare community feel supported and armed with the knowledge you need to make informed decisions and comfortably advocate for yourself at every turn. We can help you find your bearings and discover your voice in this new chapter of your life. Eventually, this will all feel quite natural, and you will one day be leading a rare patient or family in the very same position that you are in right now. However, if all of that forward thinking feels too heavy, that’s okay! Prioritize self care and remember, you can always try to lift the heaviness again tomorrow.

“Courage doesn’t always roar. Sometimes courage is the little voice at the end of the day that says I’ll try again tomorrow.”
– Mary Anne Radmacher

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Shannon and her daughter, Kenzie

Shannon began her journey in RARE in 2015, when her daughter Kenzie was born with an ultra rare condition called MCAP. After suffering from the isolation and hopelessness that can often come from a rare diagnosis herself, she decided to find a way to support other patients and families in their rare journeys.

Alongside her daughter’s geneticist, Shannon has worked hard to support, educate and unite the rare disease community for nearly a decade. Recognizing early on that this was a passion she needed to lean into, she partnered with Calvin University, Corewell Health, Michigan State University and the Van Andel Institute of Research to co-found the Rare Disease Network in Grand Rapids, Michigan. Shannon also volunteers for the Helen Devos Children’s Hospital NICU Parent to Parent Program, supporting and mentoring families navigating complex diagnoses. She graduated from Grand Valley State University with a Bachelor’s degree in English and education.