Rare diseases can affect all aspects of a patient’s life, not just physical health. If you have Gaucher disease, it’s not just about finding a treatment that’s effective. Finding supportive resources, including peers who also live with the disease, can help you cope with your condition—and empower you to take charge of your health.
Aviva Rosenberg, Esq., healthcare attorney and Gaucher disease advocate and patient, knows this from experience. She shares her thoughts about Gaucher disease support, education, and advocacy.
Empowerment to Live Better with Gaucher Disease
Personal empowerment may help you feel more in control of your health and your life. But what is empowerment? And how do you empower yourself?
The concept of patient empowerment emerged decades ago. Traditionally, patients viewed physicians as the final authority in their care. But as more people became interested in personalized medicine, patient empowerment gradually became a central theme in healthcare delivery.
Today, most healthcare providers view their patients as partners in medicine. Doctors can combine their medical expertise with an empowered patient’s insights to create an informed and personalized care plan for each person.
“To me, empowerment means that you’re up on the latest research. You understand the basics of your disease and how it affects your body. Becoming empowered helps you understand what Gaucher disease does, and how treatment can help,” says Rosenberg.
As you empower yourself with knowledge, you may also feel more responsible for your own health. And, for most, greater personal responsibility leads to living more healthfully, especially when dealing with a rare disease.
Patient empowerment is often the first step toward successful personal advocacy. It’s especially important to be able to advocate for yourself so you can live the life you want.
Gaucher Disease Specialists and Patient Empowerment
Because of its rarity, many healthcare providers are unfamiliar with Gaucher disease. If you have Gaucher disease, it’s vital to work with a Gaucher specialist who has the specialized knowledge to keep you as healthy as possible.
“Once you put together a Gaucher disease care team, you can start the process of empowering yourself. Try asking your doctor what else you should do to take charge of your health,” says Rosenberg.
A Gaucher disease specialist can help you determine the best ways to stay healthy. Fortunately, most Gaucher disease specialists view patients as partners in health.
How your care team can help you empower yourself
Personal empowerment is a skill that takes time to learn. For many, empowerment begins with education.
First, you should work with your Gaucher disease specialist to develop a clear understanding of Gaucher disease and how it affects your body. Your doctor can also let you know which Gaucher symptoms you may experience based on the type of Gaucher disease you have.
Next, you can work with your care team to optimize your health. No two cases of Gaucher disease are exactly alike, but your doctor can help you find ways to best manage the condition.
Your doctor may recommend taking certain supplements that promote bone health to help you avoid potential complications. Or, your doctor may suggest meeting with a genetic counselor to help you understand Gaucher disease in relation to family planning.
Let your care team know you’re working to become more empowered. Most Gaucher disease physicians, treatment centers and the NGF can guide you to resources and supports to help you empower yourself and manage this rare disease.
The Challenges of Rare Disease
“Rare diseases bring up many different issues outside of the medical problems you discuss with your doctor,” says Rosenberg. “Many of these issues pertain to living life and practicing life skills. You may have to deal with insurance companies, job issues, dating, child care, and more.”
Simply living with a rare disease can sometimes lead to mental health challenges such as depression and anxiety. On average, it takes almost five years from when someone seeks out medical care for symptoms until they receive a correct diagnosis.
And because many healthcare providers are unfamiliar with rare diseases like Gaucher disease, patients often need to educate their physicians. These issues, along with concerns like symptom management and financial difficulties, can cause excessive worry and mental strain for many.
How Peer Support Can Help You Cope
“It’s very helpful to know other people who’ve gone through what you’re going through,” says Rosenberg. “Fortunately, there are lots of ways to connect with other people who live with Gaucher disease.”
Living healthier with peer support
Combined with recommended treatment, forming strong connections with other Gaucher disease patients may help prolong your life. If you have satisfying relationships with your friends and community members, you’re more likely to live a happier, healthier, and longer life.
Research shows that peer support helps reduce levels of stress, reducing further harm to your body. If you decide to help support others, you may also benefit from the release of greater amounts of certain hormones that relieve stress.
Since you benefit from both types of interactions, it’s important to work to strengthen your relationships with Gaucher disease peers. Building high-quality relationships within the Gaucher disease community promotes education, empowerment, and advocacy, helping to change how individuals respond to this disease.
Making Connections to Live Better
Living with a rare disease like Gaucher disease can be challenging, especially if you don’t feel like you have anyone to turn to. For some, it’s easy to become trapped by negative emotions that prevent you from living your life to the fullest.
If you are hesitant or afraid to reach out for help, remember that you are not alone. Keep in mind that there are others who know what you’re going through—and who want to help.
Gaucher disease resources online
Thanks to the Internet, it’s easier than ever to connect with others who live with Gaucher disease. Organizations like NGF and the Gaucher Community Alliance offer a variety of mentorship programs. The International Gaucher Alliance also helps connect patients and provides access to many supportive resources. NGF specifically helps patients connect with others through resources like the E-Pal Connections Program and Gaucher disease discussion groups.
Social media is also a great way to connect with your peers. Already, people living with Gaucher disease connect using Facebook and other social media platforms.
An international community of patients helps you feel less isolated, and the peer support you receive can help you cope with any struggles you may face. People around the world are ready and willing to share their experiences to help everyone with Gaucher disease live better.
“It’s important to understand there are other people out there who are just like you. They’ve been through it, and they want to help. You should try to reach out and tap into the Gaucher disease community as a resource. Sharing experiences and working together helps us all live better,” says Rosenberg.
- National Center for Advancing Translational Sciences — FAQs About Rare Diseases — https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
- National Organization for Rare Disorders — Gaucher Disease — https://rarediseases.org/rare-diseases/gaucher-disease/
- Public Library of Science — Depression and anxiety in patients with different rare chronic diseases: A cross-sectional study — https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211343#sec024
- Orphanet Journal of Rare Diseases — “It’s not all in my head!” – The complex relationship between rare diseases and mental health problems — https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0591-7
- Patient Education and Counseling — Patient empowerment, patient participation and patient-centeredness in hospital care: A concept analysis based on a literature review — https://www.researchgate.net/profile/Eva_Castro9/publication/305415824_Patient_empowerment_patient_participation_and_patient-centeredness_in_hospital_care_A_concept_analysis_based_on_a_literature_review/links/5b83c78b4585151fd13531ce/Patient-empowerment-patient-participation-and-patient-centeredness-in-hospital-care-A-concept-analysis-based-on-a-literature-review.pdf
- Harvard Medical School — Strengthen relationships for longer, healthier life — https://www.health.harvard.edu/healthbeat/strengthen-relationships-for-longer-healthier-life