Living with Gaucher disease involves closely managing your symptoms and treatment to optimize your long-term health. So be proactive about your care—and don’t wait for someone else to take the lead. As the patient, you know the most about the day-to-day realities of living with Gaucher disease. That knowledge is your greatest asset, and learning how to use it is the first step toward better health.
Dr. Robin Ely, an integrative medicine physician and clinical director of the National Gaucher Foundation (NGF), shares what it means to take control of your health and why you shouldn’t rely solely on your doctor.
Tune in to Gaucher Symptoms
Optimizing your health begins with paying attention to your body. Symptoms are signals telling you something is wrong—so listen carefully. “If we learn how to tune in to the whispers that our body tells us, we can intervene earlier and more effectively,” Dr. Ely says.
While some symptoms can only be identified through in-office tests, there are plenty that you can monitor on your own, including:
- Aches and pains
- Digestive discomfort
- Easy bruising or bleeding
- Fatigue
Consider keeping a symptom journal to help you notice physical cues and identify patterns. Lifestyle changes, such as a healthy diet and regular exercise, may help you feel better. Communicate any concerns to your care team so they can help guide you.
You Choose Your Doctor—But You’re in Charge
Your doctor plays a central role in managing Gaucher disease. However, there’s a difference between listening to your doctor and relying on them to make decisions for you. “A lot of people, even in today’s informed world, put too much emphasis on the doctor in terms of health management,” Dr. Ely says.
Your doctor is a valuable resource, but ultimately, you are responsible for your own health. Talk to your care team about your concerns, including symptom flare-ups, medication questions, and treatment adjustments you’d like to explore.
Taking the lead in managing your health also means not being afraid to question your treatment or seek outside expertise when something doesn’t feel right. “Your doctor never has the last word on your well-being. Always speak up if you have questions or concerns,” Dr. Ely says.
Explore Other Gaucher Treatment Options
The primary treatment for Gaucher disease is enzyme replacement therapy (ERT). This intravenous (IV) infusion balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. However, some patients experience fatigue if their dose is too low.
“If you’re on treatment but don’t feel better, say something,” Dr. Ely says. Ask your doctor about raising your dose. If you’re tired of getting infusions every two weeks, ask whether you are a candidate for a newer treatment called substrate reduction therapy (SRT). This oral medication decreases the amount of glucocerebroside that the body makes, reducing excess buildup.
If your doctor doesn’t know a lot about SRT or doesn’t show interest in discussing it, reach out to the NGF. “We’re happy to be a resource for you,” Dr. Ely says. She often chats with people who face challenges navigating their treatment or encounter setbacks with their provider.
Make Lifestyle Changes That Stick
Healthy lifestyle habits are key to managing your health. “We have a lot of control over our health span,” Dr. Ely says. While lifespan measures how long you live, health span measures the years you spend feeling strong and free from illness. Genetics influence your health outcomes to some extent, but the actions you take every day can significantly affect how your body responds to Gaucher disease and how well you feel day to day.
In particular, regular exercise and healthy eating can help manage symptoms and related health issues. Exercise supports energy levels and strengthens bones, helping combat loss of bone mineral density in people with Gaucher. A balanced diet gives you the nutrients your body needs to keep your immune cells functioning.
Don’t Be Afraid to Seek Other Gaucher Experts
Your doctor is an essential part of your care team, but there are many other specialists you can lean on to optimize your health, including nutritionists, acupuncturists, meditation practitioners, and personal trainers.
One often-overlooked tool is breathwork. “Breathing techniques are extremely important—oxygen utilization affects every cell,” Dr. Ely says. You can find many guided breathing practices online, making this an accessible option to add to your Gaucher care routine.
How the National Gaucher Foundation Can Help
If you or a loved one lives with Gaucher disease, the National Gaucher Foundation is here for your family. We offer resources to optimize your health with Gaucher disease and connect you with the support you need.
Please reach out for any private consultations with Dr. Ely by emailing her at info@gaucherdisease.org
