Acid Maltase Deficiency Association - AMDA

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Acid Maltase Deficiency Association - AMDA But the AMDA had (and still has) another purpose—to be a source of support to patients and their families who are living with Pompe.

The Acid Maltase Deficiency Association (AMDA) advances Pompe disease research, early diagnosis, and improved care through global collaboration, advocacy, and support for individuals and families affected by Pompe disease. When the AMDA was formed in 1995, the goal was to raise awareness of Pompe Disease around the world and to promote research with the hope of finding a treatment or cure. Through a combination of educational material, one-on-one patient support, and active communication and collaboration with the scientific community, the AMDA remains dedicated to supporting the Pompe Community. Today, the AMDA strives to support the Pompe Community through a variety of resources:

~Patient Advocate: The AMDA’s Patient Advocate, Marsha Zimmerman, is a registered nurse and has been working as a Pompe Patient Advocate since 2003. She has experience assisting families with everything from securing access to therapy, to assisting with education and communication with medical professionals, to providing emotional support. Whatever questions or issues you may face, Marsha can help you find the answers you need. She can be reached at her email address: [email protected] or [email protected]

~Website: The AMDA website provides current information on research and treatment advancements, disease management, research publications, and other important news. The AMDA website is: www.amda-pompe.org

~E-Blasts: The AMDA sends out regular Emails or “E-Blasts” to all registered patients and their families. Information in the E-Blasts may include patient stories, research and industry updates, clinical trial updates, recent research publications, international Pompe news, and upcoming Webinars, surveys, and events. Register on our website: www.amda-pompe.org

~ Webinars/Teleconferences: The AMDA offers webinars and teleconferences as a tool to facilitate the exchange of information between the Pompe patient community and experts in the Pompe field. The AMDA hosts numerous webinars a year for the Pompe community. All webinars and teleconferences have been recorded and are available on the AMDA website: www.amda-pompe.org

~ Events (check website and Facebook for updates):
• Rare Disease Day Observance, last day of February each year
• International Pompe Day Observance, April 15th of each year
• Pull for Pompe Fundraiser, Saturday, end of April each year

~Patient/Scientific Conference: The AMDA sponsors a scientific conference every 3-5 years. These conferences are traditionally held in San Antonio, Texas, and are attended by patients, physicians, and researchers from around the world. The conferences provide an opportunity to bring together the entire Pompe community to exchange information about recent developments in Pompe disease and best practices for disease management. Keep up to date on future conferences by visiting and registering on our website: www.amda-pompe.org

~Mentor Program: The AMDA Mentor Program can help get patients and their families in touch with other people who have already been through a similar experience for them to share experiences, feelings, and resources related to Pompe disease. The AMDA has a list of volunteer mentors within the Pompe Community who are waiting to assist patients and their families get the information they may need to deal with their new diagnosis. To participate in the Mentor Program, or to learn more about it, please visit www.amda-pompe.org. You can also contact Morgan Burroughs to begin the application process to be a Mentor or Mentee or to answer any of your questions. She can be reached at her email address: [email protected] or [email protected]

‼️$150,000 in Pompe Disease Research Funding. Deadline Approaching!‼️🔬Researchers, there’s still time to submit your Let...
10/10/2026

‼️$150,000 in Pompe Disease Research Funding. Deadline Approaching!‼️

🔬Researchers, there’s still time to submit your Letter of Intent for AMDA’s $150,000 research grant!

We’re committed to supporting research that advances our understanding of Pompe disease and brings us closer to better treatments and outcomes for patients.

The deadline to submit your Letter of Intent is October 15, 2026. That’s just 5 days away!

https://amda-pompe.org/2026-2027-amda-research-grant-call-for-letters-of-intent/

Tag a researcher!

Help us move Pompe research forward.

📍Andrea in Boston!Conference season continues, and this time Andrea is at Harvard Medical School hosted by Boston Childr...
10/09/2026

📍Andrea in Boston!

Conference season continues, and this time Andrea is at Harvard Medical School hosted by Boston Children’s Hospital for the Children’s Rare Disease Collaborative Summit!

This one-day event brings together patients, families, researchers, and healthcare professionals to explore how genetic research is helping improve care and advance rare disease treatments.

Having a voice in these conversations matters. Every connection and collaboration brings us closer to better care and a brighter future!

We like to tailor our webinars to what you want to learn, what advances in rare disease research are you most excited about?💚

📢 Deadline Extended!SIX travel scholarships are now available to attend WORLDSymposium 2027 in San Diego!✈️ Travel, hote...
10/09/2026

📢 Deadline Extended!

SIX travel scholarships are now available to attend WORLDSymposium 2027 in San Diego!

✈️ Travel, hotel, and conference registration included.

New application deadline: October 16, 2026!

WHO IN THE POMPE COMMUNITY INSPIRES YOU?🫵Maybe you’ve met in person, or maybe you only know each other through social me...
10/08/2026

WHO IN THE POMPE COMMUNITY INSPIRES YOU?🫵

Maybe you’ve met in person, or maybe you only know each other through social media.

Tag a fellow member of the Pompe community and tell us what you appreciate about them. Let’s introduce each other to the people who make this community stronger.

New to AMDA? Follow our page for Pompe education, community connections, and opportunities to get involved. Or visit our websote at AMDA-Pompe.com

🔬UNDERSTANDING YOUR LABS: BICARBONATE (CO₂)Have you ever noticed “CO₂” on your routine bloodwork and wondered what it me...
10/07/2026

🔬UNDERSTANDING YOUR LABS: BICARBONATE (CO₂)

Have you ever noticed “CO₂” on your routine bloodwork and wondered what it means?

On a basic or comprehensive metabolic panel, the CO₂ value largely reflects bicarbonate, a substance that helps your body maintain its acid-base balance.

So what does that have to do with Pompe disease?

For some people with Pompe, respiratory muscle weakness can make it harder to ventilate effectively, particularly during sleep. If the body retains carbon dioxide over time, the kidneys may compensate by retaining more bicarbonate. That can sometimes show up as an elevated CO₂/bicarbonate level on routine bloodwork.

But here’s the important part:

An elevated bicarbonate level DOES NOT automatically mean you are retaining carbon dioxide or experiencing respiratory insufficiency.

Bicarbonate can be affected by many other factors, including dehydration, vomiting, certain medications, kidney function and other medical conditions. A single elevated result should never be interpreted by itself.

In Pompe disease, bicarbonate is better thought of as a POSSIBLE CLUE rather than a diagnostic test.

If bicarbonate is persistently elevated, particularly in someone experiencing symptoms such as morning headaches, daytime sleepiness, fatigue, shortness of breath when lying down or disrupted sleep, a healthcare provider may consider whether additional respiratory evaluation is appropriate.

That evaluation may include pulmonary function testing in both sitting and supine positions, CO₂ monitoring, blood gas testing or a sleep study.

THE TAKEAWAY:

Sometimes a routine lab value can provide another piece of the puzzle. Bicarbonate cannot diagnose hypoventilation, but when considered alongside symptoms and respiratory testing, it may provide useful information about how well someone is ventilating.

As always, lab values should be interpreted by your healthcare team in the context of your individual health and other test results.

This information is for educational purposes only and is not a substitute for medical advice.

Pompe disease is rare, support shouldn’t be.

WHERE IS ANDREA THIS WEEK? It’s conference season and we’re keeping track of Andrea’s whereabouts. Last week she was in ...
10/06/2026

WHERE IS ANDREA THIS WEEK?

It’s conference season and we’re keeping track of Andrea’s whereabouts.

Last week she was in Paris, this week Washington, D.C.!

Andrea is representing the AMDA and the Pompe community at the 2026 Milken Institute Patient Advocacy Forum, hosted by Milken Institute Health in partnership with Sanofi.

This invitation-only forum brings together senior patient advocacy leaders from across the country to talk about where patient advocacy has been, where it stands today, and most importantly, where it needs to go next.

The day’s conversations are centered around four themes: Celebrate the Past. Confront the Present. Shape the Future. Commit to Action.

They’re tackling some important topics, including the current state of patient advocacy, innovation and access, building better care together, the growing role of AI and data in healthcare, and how patient advocates can continue to have a meaningful voice in the decisions that affect their communities.

One of the goals of the forum is to move those conversations toward action, including a shared declaration focused on patient-driven innovation, access and trust.

Andrea also had a chance to see the Tree of Generations at the Milken Center for Advancing the American Dream. The interactive installation is made up of individual people and family stories, coming together to represent the many different people who make up the American story.

For a rare disease organization like the AMDA, being invited into rooms like this matters. It means the Pompe community has a seat at the table when broader conversations about patients, research, innovation and access are taking place.

We are proud to have Andrea there representing our community and bringing the Pompe perspective into the conversation.

Where will Andrea be next? Stay tuned.

Welcome back to Ask Marsha Monday!Each week, we feature one question submitted to the AMDA and share Marsha’s response a...
10/05/2026

Welcome back to Ask Marsha Monday!
Each week, we feature one question submitted to the AMDA and share Marsha’s response anonymously with the community. Marsha will respond to every question we receive, and we’ll choose one each week to feature here.

THIS WEEK’S QUESTION:
“What supplements are worth taking for LOPD? I live in South Africa and there is very little knowledge here. I am 65 years old and was diagnosed 8 years ago. I take calcium, vitamin D, magnesium, omega-3 and L-lysine. Anything else?”

MARSHA’S ANSWER:
This is a great question. Nutrition and maintaining bone and muscle health are important for people living with late-onset Pompe disease.

Before answering, I reached out to Pompe expert Dr. Mark Tarnopolsky to make sure I was sharing the most current information. He confirmed that the published review “Nutrition and Exercise in Pompe Disease” is an appropriate resource to reference. https://pmc.ncbi.nlm.nih.gov/articles/PMC6642937/

Based on that review, calcium and vitamin D can be helpful for supporting bone health when they are appropriate for the individual. The review also emphasizes the importance of testing for nutritional deficiencies, such as protein, vitamin D and vitamin B12, and addressing those deficiencies when needed.

The Pompe-specific benefits of supplements such as omega-3 and L-lysine are less well established, and there isn’t currently a standard list of additional supplements recommended for everyone with LOPD.

One helpful approach is to look at each supplement you are taking and ask: What specific need is this addressing for me? Bloodwork, diet, medications, kidney function and bone health can all affect what your individual needs may be.

Have a question for Marsha? Send the AMDA a private message. Marsha will respond to every question, and yours may be selected to be featured anonymously in an upcoming Ask
Marsha Monday.

For our international Pompe community, we are always happy to hear from you. Because resources, healthcare systems and treatment access vary significantly by country, most international questions will be referred to the International Pompe Association (IPA) so you can receive information and guidance appropriate to your region.

ASK MARSHA DISCLAIMER:
Ask Marsha shares general information and a patient advocate's perspective, drawing on Marsha's years of experience in the Pompe community. This is not medical advice and does not replace guidance from your own doctor or care team. AMDA does not endorse any specific treatment, product, or provider. Please talk with your care team before making decisions about your health.

UNDERSTANDING YOUR LABS: LDHIf you live with Pompe disease, you may see LDH listed on your bloodwork.LDH stands for lact...
09/30/2026

UNDERSTANDING YOUR LABS: LDH

If you live with Pompe disease, you may see LDH listed on your bloodwork.

LDH stands for lactate dehydrogenase, an enzyme found throughout the body, including in the muscles, liver, heart, kidneys, and blood cells.

When cells are damaged, LDH can be released into the bloodstream. Because Pompe disease affects skeletal muscle, LDH may sometimes be elevated as a result of muscle involvement.

But LDH is NOT specific to Pompe disease or even to muscle. An elevated LDH can have many causes, which is why your healthcare team will usually interpret it alongside other results, such as CK, AST, ALT, and other clinical findings.

WHAT CAN LDH TELL YOU?

LDH can provide another piece of information about what may be happening in the body, but it cannot tell your healthcare team exactly where tissue damage is occurring on its own.

As with all lab results, trends over time and the bigger clinical picture matter more than any single number.

Always discuss your individual results with your healthcare team.

Pompe disease is rare. Support shouldn’t be.

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