Diagnosed With Late-Onset Pompe Disease (LOPD) — What Should I Do Now?

Late-onset Pompe disease (LOPD) is a rare genetic disorder that causes glycogen buildup in muscle tissue, resulting in progressive muscle weakness and respiratory issues. There is no cure for Pompe disease, but treatment can help manage your symptoms and slow your rate of physical decline.

What Does Pompe Disease Mean for Me?

Receiving an LOPD diagnosis often brings with it two different — sometimes conflicting — feelings, says Emanuele Barca, MD, a neuromuscular neurologist at NewYork-Presbyterian/Columbia University Irving Medical Center. Because it can take years to be diagnosed, you may feel a profound sense of relief to finally have a name for your symptoms, mixed with the feelings of distress that can come from managing a rare disease, he says.

Heather Shorten, MSW, LSW, founder of the Pompe Alliance, who was diagnosed with LOPD in 2015, recalls that while the news felt scary and sad, it also brought her a necessary sense of clarity. “I was hopeful because now I knew what I had and I could plan for my care,” she says. “I needed to know so I could start planning how I’m going to take care of myself.” And treating your LOPD may take a lot of work.

Some people notice increasing muscle weakness or fatigue, which may also lead to difficult decisions about their career or living situation. Shorten, for example, had to step away from her role as a social worker when her body could no longer keep up with the physical demands of the job.

What Can I Do for My Pompe Disease?

The most important step in managing LOPD is starting and staying on ERT, which is an obligatory lifetime treatment, says Dr. Barca. It’s currently the only direct treatment for the condition, and it serves as the primary tool for slowing the progression of the disease.

Other steps to take after an LOPD diagnosis include the following:

• Evaluate your logistics. Consider the location of your health system, says Darius J. Adams, MD, medical director of Jacobs Levy Genomic Medicine and Research Program at Atlantic Health in New Jersey. Since LOPD treatment is lifelong, traveling out of state for your care can be problematic financially, due to insurance issues and travel costs.
• Stay consistent with your infusions. ERT works best when it’s administered on a regular schedule.

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  Keeping up with treatments is one of the most important ways to maintain your strength and independence.
• Assemble your care team. In many cases, a geneticist acts as the “quarterback” of your medical team, coordinating between different specialists to ensure that nothing is missed, says Dr. Adams. Other key medical team members may include a neurologist, pulmonologist, cardiologist, physical therapist, occupational therapist, speech therapist, and registered dietitian-nutritionist.
• Build your support system. Lean on family members, friends, and patient support groups. Connecting with others who understand Pompe disease can make a meaningful difference, says Shorten.
• Evaluate your living space and routine. Small adjustments at home or at work, such as mobility aids, can make daily life easier and help you stay independent. Make big changes now, while you have the energy and ability, instead of waiting until you feel trapped by your condition.
• Understand the genetic side of the disease. Because LOPD is inherited, a genetic counselor can help you understand what this means for your family and guide decisions about testing in a thoughtful way, says Adams.
• Prioritize your mental health. Adjusting to a diagnosis like LOPD can take time. Speaking with a therapist or counselor can help you process emotions, manage stress, and feel more in control.

Lifestyle Changes You Can Make Right Away

When you have LOPD, a number of small adjustments in your daily routine can help support your energy levels and muscle strength.

• Adjust your diet. It’s usually recommended that people with Pompe disease eat a high-protein, lower-carbohydrate diet to support muscle function.

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• Modify mealtime habits. If you experience fatigue in your jaw or trouble swallowing, try cutting food smaller or choosing softer meals or smoothies.

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• Engage in exercise. Work with a physical therapist to develop an exercise routine that keeps you active and supports your mobility, balance, bone strength, and energy without overexerting muscles that are already weakened.

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• Avoid alcohol and smoking. These substances can weaken muscles by reducing oxygen and nutrients your body needs, as well as strain your lungs and heart, making it more difficult to stay strong and active.
• Reframe your mindset. Shorten reframed her long infusion days at the clinic as a “spa day” that helped recharge and recover.
• Stay up to date with your vaccines. Regular vaccinations are important for protecting your lungs from seasonal flu, colds, and viruses.

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When Do You Need Urgent Medical Attention?

Call 911 or head to the emergency room immediately if you experience:

• Sudden difficulty breathing, which is especially critical if you have a cold or a chest infection. LOPD leaves your respiratory muscles weakened, without a lot of reserve strength to fight off a virus.
• A cloudy mental state, marked by extreme confusion, unusual sleepiness, or a blunted response to people around you. It’s a common symptom of hypoxia (low oxygen) or hypercapnia (high carbon dioxide), both of which can occur in respiratory failure.

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Your Pompe Disease Care Team

• Neuromuscular specialist or neurologist. This is provider specializes in muscle weakness and will lead the management of your disease progression.
• Clinical geneticist. This expert will confirm your diagnosis, coordinate your care, and oversee your ERT infusions and response to therapy.
• Pulmonologist. This specialist will track your diaphragm strength and lung health and can prescribe respiratory support like CPAP or BiPAP therapy.
• Cardiologist. This specialist will monitor your heart function, as the buildup of glycogen can sometimes impact cardiac muscles.
• Physical and occupational therapists. These experts design safe exercise routines and help you maintain independence at home.
• Speech therapist. This expert can help support your communication abilities and provide advice about safe swallowing techniques as muscle weakness progresses.
• Social worker. This person will help with insurance logistics, as well as workplace and school accommodations.
• Registered dietitian-nutritionist. This expert will likely suggest dietary shifts, such as increasing your protein consumption and reducing carbohydrates, to better support your muscle health.

Finding Support

Start with your doctor or the specialists at your clinic, as they are likely your best resources for medical guidance and mental health referrals. Connecting with advocacy groups or peers who truly understand the rare disease journey can also help you feel less alone.

• The Pompe Alliance is a patient-led group that focuses on mental health and building a supportive community for those living with the disease.
• United Pompe Foundation is a nonprofit organization that provides a helping hand with the financial and emotional costs of the disease.
• National Organization for Rare Disorders is a helpful resource for educational guides and information on navigating insurance and medication access.

The Takeaway

• Late-onset Pompe disease is a rare genetic disorder caused by glycogen buildup in the muscles, leading to progressive muscle weakness and respiratory issues.
• The primary treatment for LOPD is lifelong enzyme replacement therapy, which helps stabilize the person’s health and preserve their independence by providing the body with the enzymes needed to break down glycogen.
• Managing the condition effectively requires assembling a multidisciplinary medical team that includes neurologists, geneticists, and pulmonologists, while making lifestyle adjustments such as adopting a high-protein diet and engaging in physical therapy.
• It’s also important to prioritize mental health support and community connection through advocacy groups, as well as to monitor respiratory health closely for emergency signs like sudden breathing difficulty or mental confusion.