The Power of Self-Advocacy in Pompe Disease

When Amy was trying to get back in shape after giving birth to her second child, she noticed lower back pain and core weakness she was struggling to re-strengthen. After numerous attempts at physical therapy and consulting with numerous doctors, she finally met with a neurologist and received a diagnosis of Late-Onset Pompe Disease (LOPD), a rare, genetic disorder which causes progressive weakness and can affect the major muscle groups used for breathing and mobility.

Amy’s self-advocacy and motivation to understand what was happening to her body has helped her to keep moving forward day by day, while living with a rare disease, with the help and support of her family, friends and care team. In fact, living with a rare disease may not be as rare as you would think – affecting one in 10 Americans, there are more than 7,000 known rare diseases in the U.S.

Here are some tips to ensure you too are proactively prioritizing your health, listening to your body and getting checked out by a doctor if you are experiencing symptoms such as shortness of breath, trouble eating or chewing or difficultly walking.

  • Listen to Your Body: As someone who exercised regularly, Amy immediately took notice of her fatigue and difficulties when exercising. Speaking with physicians from multiple disciplines, eventually including a neurologist, helped lead her toward a Pompe diagnosis.
  • Communicate Your Needs: While at work as a physician’s assistant, a job that often requires being on your feet for many hours, Amy takes breaks when needed, and remains mindful of how she is feeling throughout the day. These adjustments in her schedule have helped Amy to continue working and be there for her own patients. Similar to Amy, it is important to let others know when you need help and support if you are experiencing a challenging moment.
  • Work With Your Doctor to Monitor Your Progress: Two months after her Pompe diagnosis, Amy began an enzyme replacement therapy (ERT) regimen every two weeks and visited her doctor every six months to monitor progress. In between those appointments, Amy paid close attention to her body to inform her doctor on any changes, helping ensure she maintained the muscle function she had for as long as possible. Taking note of any new symptoms also helped her make the most of her conversations with her doctor, and as a result, better-informed care decisions.
  • Understand Your Options: When diagnosed with a rare disease, knowledge is power. Making the effort to familiarize oneself with rare diseases, symptoms and resources could be key to a diagnosis and proper treatment. Even though Amy was stable on the treatment she was using, she stayed up-to-date on scientific innovations. A year after beginning her initial ERT, Amy learned about NEXVIAZYME (avalglucosidase alfa-ngpt), a monotherapy for LOPD given every two weeks. After talking it through with her doctor, she decided to change her treatment. By keeping an open dialogue with her physician and advocating for herself, Amy was able to take the best next step for her to manage her LOPD.

Like Amy and her journey, remaining persistent and curious is a critical part of one’s journey. “I hope my story helps other people. At the end of the day, everybody has something they’re dealing with. But we will get through it, if we use each other for support,” said Amy, who is being treated with NEXVIAZYME for her LOPD.

For those living with Pompe disease, it is essential to continuously speak to your healthcare provider about ways to support the management of the disease. Being informed of Pompe disease, its signs and symptoms and potential treatment options are all key to helping advocate for yourself or a loved one. If you are currently living with LOPD and on an enzyme replacement therapy, but your symptoms are worsening or you are unable to do the things you want to do, talk to your doctor to see if NEXVIAZYME could be a treatment option for your late-onset Pompe disease management.

Patient stories reflect the real-life experiences of persons diagnosed with LOPD who have been prescribed NEXVIAZYME. However, individual experiences may vary. Patient stories are not necessarily representative of what another person using NEXVIAZYME may experience.

This patient was compensated for their time in creating this content.


NEXVIAZYME (avalglucosidase alfa-ngpt) is used for the treatment of patients 1 year of age and older with late-onset Pompe disease [lysosomal acid alpha-glucosidase (GAA) deficiency].



Hypersensitivity Reactions Including Anaphylaxis

If you are taking NEXVIAZYME, you should know that severe and potentially life threatening allergic-type reactions known as anaphylaxis and severe hypersensitivity reactions have occurred during and after NEXVIAZYME treatment. You should seek immediate medical care if signs and symptoms of anaphylaxis or hypersensitivity reactions occur. If such a reaction is severe enough, your doctor may decide to immediately discontinue the infusion and provide immediate medical care. Appropriate medical support measures may be administered during your infusion, and you may require close observation during and after NEXVIAZYME administration.

Infusion-Associated Reactions (IARs)

If you are taking NEXVIAZYME, you should know that severe IARs have occurred during and after NEXVIAZYME treatment. If severe IARs occur during your NEXVIAZYME infusion, your doctor may decide to immediately discontinue the infusion and provide appropriate medical care. If you have an acute underlying illness at the time of NEXVIAZYME infusion you may be at greater risk for IARs. If you have advanced Pompe disease you may have compromised heart and breathing function, which may put you at a higher risk of severe complications from IARs.

Risk of Acute Cardiorespiratory Failure in Susceptible Patients

If you are likely to develop fluid volume overload, or have acute underlying breathing problems or compromised heart or breathing function that may require fluid restriction, there may be a risk of worsening of your heart or breathing status during NEXVIAZYME infusion. Your doctor may decide that close observation during NEXVIAZYME administration may be necessary.


Hypersensitivity Reactions Including Anaphylaxis: See Boxed WARNING. Your doctor may decide to give you antihistamine, anti-fever and/or steroid medications before your infusions. Your doctor should consider the risks and benefits of restarting the infusion if you have a severe hypersensitivity reaction (including anaphylaxis) to NEXVIAZYME. If a mild or moderate hypersensitivity reaction occurs, your healthcare provider may slow the infusion rate or temporarily stop the infusion.

Infusion-Associated Reactions (IARs): See Boxed WARNING. Your doctor may decide to give you medications before your infusions to decrease the risk of IARs; however, IARs may still occur after receiving these medications. If mild or moderate IARs occur, your healthcare provider should consider decreasing the infusion rate or temporarily stopping the infusion which may help improve the symptoms.

Risk of Acute Cardiorespiratory Failure in Susceptible Patients: See Boxed WARNING.


The most common adverse reactions (>5%) were headache, fatigue, diarrhea, nausea, joint pain, dizziness, muscle pain, itching, vomiting, shortness of breath, rash, “pins-and-needles” sensation, and hives.

Please see full Prescribing Information for complete details, including Boxed WARNING.

Sanofi does not provide medical advice, diagnosis, or treatment. The health information contained herein is provided for general educational purposes only. Your healthcare professional is the best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.

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