About Brittany Galante
Brittany Galante is a genetic counsellor and researcher who was born with hypermobile Ehlers-Danlos Syndrome (hEDS), a connective tissue disorder. After conducting her master’s thesis on hEDS diagnostics in healthcare, she became an advocate within the EDS community.
Her journey of advocacy and research eventually led her to the Rare Advocacy Movement (RAM). Brittany serves as the chief interdepartmental communications advisor at RAM, a role that gives her the opportunity to support not only her local rare disease community but the global community as well.
Her goal with RAM is to create a healthcare infrastructure that gives any person living with rare disease access to efficient and accurate diagnostic services. By helping to build this infrastructure, she is paving a new path for genetic counsellors worldwide. Currently, she is conducting another research study on hEDS diagnostics in healthcare, while also serving as a mentor for a graduate student’s separate research study centered on hEDS healthcare after diagnosis.
In her free time, Brittany enjoys both painting and baking.
Discussion with Brittany Galante
Your work on hEDS diagnostics in healthcare is so impactful—what inspired you to focus on this topic for both your master’s thesis and your current research?
As someone with hEDS, I have been through the difficult journey of searching for a diagnosis. There were many times when I felt unheard, unimportant, and sometimes blatantly disrespected by healthcare professionals. I am not alone in this experience; many people with hEDS don’t receive a diagnosis until 10 or more years after initial symptoms. That’s a really long time. We call this journey toward a diagnosis a “diagnostic odyssey”. It’s a time with countless doctor’s appointments, medical tests, and hearing “I don’t know”. For many, their diagnostic odyssey can be a circle of hope, anxiety, and disappointment. I’ll never forget the mix of emotions I felt when I was finally diagnosed with hEDS, the strongest being relief. I’ll also never forget wishing that it had happened sooner. During my graduate school admissions interview, I was asked if I had an idea of what I would be interested in as a thesis topic. Straight away I told them about wanting to research hEDS. At the time, I wasn’t sure of the specifics, but I knew that I wanted to do something meaningful that would positively contribute to the hEDS community; I wanted to find a way to decrease the challenges that come with a diagnostic odyssey.
Your ongoing research on hEDS diagnostics sounds promising. What specific changes or improvements in patient care do you hope to achieve through this work?
My ongoing research on hEDS diagnostics aims to decrease the diagnostic odyssey. I am asking the hEDS community to share their current perception of what healthcare specialists’ knowledge of hEDS was during their journey to diagnosis. By sharing their perception, they are providing an opportunity to identify the healthcare specialties that are perceived as “not well educated”, “somewhat educated”, or “well educated” about hEDS. This would help to determine specialties that would benefit the most from targeted education on hEDS, which could provide support for the development of training courses. Implementing training courses would increase awareness and knowledge of hEDS amongst these specialties, which in turn, I hope would lead to improvements in patient care both before and after diagnosis.
If you are interested in participating in this research, you can find all the information here: https://www.rareadvocacymovement.com/hedsresearchstudy
As the Chief Interdepartmental Communications Advisor at RAM, what is your goal and what community needs do you seek to address?
The lack of structured communication in healthcare systems can be detrimental to the rare disease community. Lack of communication can lead to prolonged diagnosis, incorrect diagnosis, and negative effects in care management plans after diagnosis. My goal as a member of RAM is to bridge communication gaps and help create a healthcare infrastructure that will allow for fair and equal access to diagnostic services. Studies report that many patients with rare diseases feel excluded in their diagnostic journey and/or care management plans, which can ultimately lead to an increase in mental health conditions. When I consider methods to increase communication in healthcare, my priority is always to make sure that the patients are included.
Bridging communication gaps within the healthcare infrastructure for rare diseases sounds like a huge but meaningful task. What specific changes do you envision that could make diagnostic services more accessible and efficient for patients with rare diseases like hEDS?
Our ongoing work to bridge communication gaps aims to decrease the diagnostic odyssey, but our efforts should not and will not end there. We will strive for everyone to have fair and equal access to the expected diagnostic improvements that will come from this infrastructure. Many people with rare diseases have travel limitations and the need for virtual healthcare options continues to grow. Telehealth services skyrocketed during COVID, proving that this option was always possible, it just wasn’t available anywhere near as often. Once the percentage of COVID diagnoses decreased, telehealth availability decreased with it. The average diagnostic time for rare diseases is already so long, that when you take into consideration the many appointments and medical tests that a person will go through during that time, people with travel limitations are being asked to do things that could negatively affect their health and make it even longer before they get a diagnosis. This seems unnecessary when we have learned that there is a better way.
What steps do you believe genetic counsellors can take to better support rare disease patients and their families during their diagnostic and care journeys?
Creating a healthcare infrastructure that will increase the efficiency and accuracy of rare disease diagnostics paves a new path for genetic counsellors. Trained in both medical genetics and psychosocial techniques, genetic counsellors would bring a unique perspective to this infrastructure. Their medical genetics training would allow them to communicate effectively with other healthcare professionals while their psychosocial training would allow them to support patients with rare diseases by providing a space for communication and inclusivity.
Collaboration seems to be a cornerstone of rare disease advocacy. Why do you think it’s so important for researchers, advocates, and healthcare providers to work together to improve diagnostic and treatment outcomes for rare disease patients?
Researchers, advocates, and healthcare providers all play a unique role in rare disease diagnostics. Researchers investigate changes that can be made to improve patient outcomes, advocates help educate and spread awareness, and healthcare providers can put these changes into action. While each role is important individually, I think we would see real improvement by working together. By increasing communication between these groups, diagnostic and treatment protocols can be monitored more frequently and updated as needed. Collaboration is key to helping improve the diagnostic and treatment outcomes for patients with rare diseases.
Your creative interests, like painting and baking, are fascinating! Do you find that these hobbies influence your work or advocacy efforts in any way, perhaps by giving you fresh perspectives or helping you to unwind?
Yes, I definitely feel that these interests provide a space for me to unwind. My brain is quiet when I paint and it relieves any stress that I might be holding. By clearing my mind with painting or baking, I feel that when I resume my professional work, I come back with a fresh perspective. Sometimes when you work on something for too long, or read something too many times, it is hard to find the areas with room for improvement. My hobbies allow me to come back to my professional work with clear eyes and find exactly how I can make it better.
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