8 tips for managing your everyday health with Gaucher disease
Last updated May 16, 2025, by Agata Boxe
Fact-checked by Ines Martins, PhD
Gaucher disease can cause a number of symptoms, including fatigue, bone pain, and organ enlargement, that may affect your comfort and long-term health. Comprehensive Gaucher disease management can help improve your quality of life and may reduce the risk of symptoms getting worse over time.
Staying on top of your treatment plan, managing Gaucher disease fatigue, and making a few lifestyle adjustments can go a long way toward supporting your everyday health with Gaucher.
1. Stick to your treatment plan
The two main treatments for Gaucher are enzyme replacement therapy (ERT), delivered via infusions, and substrate reduction therapy (SRT), taken orally. Depending on your Gaucher disease type and symptoms, you may need additional treatments, such as pain medication and physical therapy.
The most important aspect of managing Gaucher is adhering to the treatment plan prescribed by your doctor. A few strategies can help simplify managing your appointments and medications.
Set medication and appointment reminders
For routine check-ups with your healthcare provider, ERT, and any other appointment-based therapies, it’s best to add them to your phone’s calendar or an app that will generate automated reminders.
Similarly, if you’ve been prescribed oral medication, setting up reminders on your phone or with a virtual assistant can help you stay on track.
Keep a symptom journal
Keep a journal of your symptoms and share this information with your doctor so they can better assess whether your medication and therapies are working.
They may need to adjust your treatment plan if it is not as effective as it should be or if you’ve experienced side effects.
Stay in touch with your doctor
Regular, honest communication with your doctor can make a big difference in your health outcomes with Gaucher.
Make sure to notify them if you notice any concerning changes in your symptoms or potential side effects of medications. The sooner you report these, the faster your doctor can try to address the issues.
2. Monitor and manage fatigue
Dealing with anemia and other Gaucher disease symptoms can cause you to feel fatigued, even after a full night’s sleep. Doing your best to conserve energy can help ease exhaustion.
To manage your energy stores:
- schedule breaks throughout the workday
- break tasks into smaller, more manageable units
- work on the most challenging tasks when you feel most rested
- if possible, delegate physically demanding chores such as cooking or cleaning
- cancel social commitments when you feel tired.
You can also try to visualize your energy through the “spoon theory,” which uses spoons to represent the amount of energy you have.
Imagine starting your day with a set number of metaphorical “spoons,” or energy units, with every task — from responding to emails to making dinner — taking away one or more of them. The bigger the task, the more spoons you spend completing it. This concept can help you plan your days so you can conserve your energy when needed.
3. Prioritize bone and joint health
Issues with bone density, bone pain, and joint health are common with Gaucher disease.
Physical activity is one of the best ways to support your bones, but you should consult your doctor and physical therapist before starting an exercise program.
Some exercise options that may be suggested include:
- walking
- swimming
- strength training
- stretching
- yoga
- tai-chi.
It is important to remember that people with Gaucher disease have a higher risk of fractures, so you may need to avoid intense, high-impact exercises such as jumping and lifting heavy weights and contact sports, such as football and rugby.
4. Eat a healthy diet
While there’s no single diet for Gaucher disease, a well-balanced, nutrient-rich approach may support your overall Gaucher disease treatment plan. Before making any major changes, it’s best to speak with a nutritionist or dietitian, however.
Consider a diet that includes:
- vegetables
- fruit
- fatty fish
- nuts
- seeds
- anti-inflammatory herbs
- spices such as ginger and turmeric.
Finally, to make things easier on your more fatigued days, you can prep freezer-friendly meals in advance to quickly warm them. You can also take shortcuts by buying pre-chopped veggies and using appliances like food processors and pressure cookers to conserve energy and reduce physical strain.
5. Manage stress for your mental well-being
Living with Gaucher disease can impact your mental health as you may be dealing with bone crises, fatigue, an enlarged spleen and liver, and other symptoms or complications. You may also feel stressed about the disease’s progression if your symptoms are getting worse, and its effects on your life.
Managing stress is crucial to preventing it from worsening your symptoms.
Examples of stress management strategies include:
- practicing deep breathing and mindfulness meditation
- treating yourself with kindness and practice self-compassion
- keeping a journal to process your thoughts and emotions.
Consulting a therapist can help you find additional ways to manage stress and deal with physical and emotional challenges. Ask your doctor for a referral, ideally to someone who has assisted people with chronic diseases.
Finally, when dealing with Gaucher disease and stress, self-care is crucial. Fun hobbies like reading, drawing, or doing puzzles are great ways to relax.
6. Keep an eye on secondary health issues
Gaucher disease can cause complications, including bone disease and anemia, so it is important to watch out for their potential signs. Catching them as early as possible and reporting them to your doctor can help with prompt diagnosis and treatment.
Signs of bone disease include:
- bone pain
- joint pain
- spontaneous fractures.
Signs of anemia include:
- profound fatigue
- dizziness
- headaches
- shortness of breath
- accelerated heartbeat.
Regular check-ins with your doctor can ensure that these and other potential complications are detected and treated.
7. Plan for mobility needs
Extreme fatigue and bone disease in Gaucher can sometimes make walking difficult, so you may need to try to manage the issue through devices and home adaptations.
Your doctor or physical therapist may recommend using a wheelchair, a cane, or a walker to counter mobility challenges. An occupational therapist can also teach you how to do daily tasks with less impact on your bones and joints.
Adapting your home to your changing abilities can also make a difference. Some suggestions to consider include:
- installing grab bars throughout your home
- removing rugs and clutter
- placing a shower chair in the bathroom
- keeping frequently used kitchen items at waist level
- using an ergonomic chair and desk in the home office
Bone pain tends to worsen when it’s cold, so ensure your home is well-heated in the winter. Using heated blankets and a space heater can also be helpful.
8. Build a supportive care network
Strong medical and social support matters for rare disease patients, including those with Gaucher.
Medical support
Managing chronic illness often requires a multidisciplinary team of experts. With Gaucher, it may include:
- a primary care physician
- a geneticist
- a hematologist
- a pain management specialist
- a neurologist
- an orthopedist
- a physical therapist
- an occupational therapist.
Social support
Talking to family and caregivers about your needs can help reduce the strain of the disease on your mental health. Stay in touch with your loved ones, and don’t hesitate to reach out first if life gets busy for them.
Connecting with others diagnosed with Gaucher disease can also be valuable, as they can empathize with your experience. You can meet some of them on virtual group calls through the Gaucher Community Alliance.
You can also explore Gaucher disease resources, news, and research updates at Gaucher Disease News.
Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
