Acid Maltase Deficiency Association - AMDA

02/27/2026

As Rare Disease Week comes to a close, people around the world are raising awareness for the more than 300 million individuals living with a rare disease.

This week, we proudly celebrated one of our own.

Tiffany House was named a RareVoice Awardee for State Advocacy at Rare Disease Week on Capitol Hill.
Her recognition was more than an honor. It was a powerful reminder of what advocacy can accomplish for the Pompe disease community.

Tiffany never pursued recognition. She pursued progress.
She worked tirelessly to raise awareness about Pompe disease, champion newborn screening, and ensure that patients and families were heard in policy conversations that shape care and access.

That dedication helped drive meaningful change. In 2015, Pompe disease was added to the US Recommended Uniform Screening Panel. As of August 2025, 47 states plus DC screen for Pompe disease. AMDA remains committed to achieving screening in all 50 states.
Advocacy is persistence. It is courage. It is showing up again and again.
And your voice carries that same power.

As we close out Rare Disease Week, here are four ways you can participate in Rare Disease Day:
• Wear your stripes
• Share a rare disease fact on social media
• Attend a Rare Disease Day event
• Post a photo and story of your loved one on the Faces of Rare

Celebration Wall
Together, our voices are stronger.
Pompe Disease Is Rare. Support Shouldn’t Be

02/24/2026

Enzyme Activity in Pompe Disease: What Do the Numbers Really Tell Us?

After diagnosis, most families are told that Pompe disease is caused by reduced GAA enzyme activity. But many are still left wondering:

What do my specific enzyme levels actually mean?
How do labs interpret “residual activity”?
What is pseudodeficiency, and how does it affect results?
Do enzyme activity levels predict severity?

Our Enzyme Activity Q&A in the Documents section of our website takes a deeper look at these questions. It explains how enzyme activity is measured, why results can vary depending on the testing method, and how those values fit into the larger diagnostic picture alongside genetic testing and clinical presentation.

Understanding these nuances matters. Especially in newborn screening cases, borderline results, or when families are trying to interpret lab reports with unfamiliar terminology.

Clear information leads to better conversations with your care team and stronger self-advocacy. See the full Q&A here
https://amda-pompe.org/wp-content/uploads/2024/06/AMDA-QA-Enzyme-Activity-June-2024.pdf

At AMDA, we work to help families navigate not just the diagnosis, but the layers of medical detail that come with it.

Pompe Disease Is Rare. Support Shouldn’t Be.

02/23/2026

Treatments evolve. Research advances. Insurance policies change. Clinical trials open and close. Standards of care shift. New voices and new experts enter the space.

When you stay connected to the Pompe community, you’re not just finding emotional support. You’re staying informed.

Community is where:
• You hear about research updates in real time
• You learn what questions to ask your care team
• You discover resources others wish they had known sooner
• You gain insight into navigating insurance and treatment systems
• You connect with experts who understand Pompe deeply

Our recent webinar exploring research studies, registries, and patient surveys highlighted just how powerful informed patients and families can be in shaping the future of Pompe care. If you missed it, you can watch the recording now on our website. https://amda-pompe.org/webinars/

Stay tuned for more educational webinars and upcoming Talking With Your Pompe Peeps sessions where real conversations and shared experiences help us all learn and grow together.

AMDA exists to help bridge that gap. To be a place where families can gather, ask, learn, and share. To make sure no one is navigating this alone or in the dark.

Because Pompe Disease Is Rare. Support Shouldn’t Be.

If you’re part of this community, thank you for showing up. If you’re new here, welcome. We’re stronger and smarter together.

02/17/2026

Have you ever wondered what the difference is between a research study and a patient registry in Pompe disease?
These tools are more than just databases. They are how the patient voice shapes the future of care. Research studies and registries help scientists better understand disease progression, evaluate treatments, improve standards of care, and advocate for meaningful change.

As AMDA continues expanding our webinars and online group conversations, bringing our community together remains one of our greatest priorities. Education leads to empowerment. And informed participation strengthens progress.

Join us here https://us06web.zoom.us/webinar/register/WN_W1qbSJKuRsSmlGffxlPaDQ #/registration

Pompe Disease Is Rare. Support Shouldn’t Be.

02/12/2026

Yesterday’s Talking With Your Pompe Peeps call was a huge success. One of the most relatable moments? Realizing so many of us have the same sidekick…
The rolling cart.

You know the one.
It follows the wheelchair.
It carries the ventilator and humidifier.
It holds the chargers, snacks, meds, paper, pens, and the “just in case” supplies.

Adaptations like this are more than practical. They are smart, creative ways families make daily life smoother.

Now we want to know…
WHAT'S IN YOUR CART?

Drop it in the comments or share a photo. Your setup might spark a great idea for someone else.

02/09/2026

Living with Pompe disease often means learning, adapting, and finding new ways forward. But one thing you don’t have to do alone is navigate the journey.

Pompe disease is rare, and sometimes the best support comes from connecting with people who truly understand the day-to-day realities. That’s why we created Talking With Your Pompe Peeps — a welcoming space where individuals and families affected by Pompe can come together, share experiences, ask questions, and have real conversations in a supportive environment.

Whether you are newly diagnosed, years into your journey, or supporting a loved one, your voice and your story matter.

💻 Join us for our upcoming Talking With Your Pompe Peeps session and pull up a seat at the conversation. Register now and be part of a community that listens, learns, and grows together.

https://us06web.zoom.us/meeting/register/R4TIRumNQyiKbO71TzAqFA #/registration

Pompe Disease Is Rare. Support Shouldn’t Be

02/07/2026

Join us for the next Talking With Your Pompe Peeps conversation, where this month’s focus is everyday adaptations. The small changes, workarounds, routines, and mindset shifts that help people living with Pompe disease build fuller, more meaningful lives.

This session is facilitated by George Fox, a dad of a young adult living with Pompe disease. It’s a relaxed, peer-led Zoom conversation. No presentations. No pressure. Just real people sharing what’s helped them along the way.

Come to talk. Come to listen. Come because you could use a space where people just get it.

Pompe Disease Is Rare. Support Shouldn’t Be.
🗓 February 11
⏰ 12 PM CT
📍 Online via Zoom
https://us06web.zoom.us/meeting/register/R4TIRumNQyiKbO71TzAqFA #/registration

02/04/2026

We are honored to share this moment recognizing Tiffany House as a recipient of the RareVoice Award for State Advocacy. The award is presented by the EveryLife Foundation For Rare Diseases.

This award is given to advocates whose voices have helped shape meaningful change at the state level for people living with rare diseases. Tiffany’s work did exactly that: She believed deeply that families affected by Pompe disease deserve to be seen, heard, and supported not just medically, but through thoughtful policy and advocacy that improves real-life outcomes.

Tiffany did not advocate from a distance. She lived this work. Her leadership helped elevate the patient voice in rooms where decisions are made, and her impact continues to guide how we show up for the Pompe community today.

Pompe disease is rare. Support shouldn’t be.

Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.

02/03/2026

Living with Pompe disease often means finding new ways to adapt. From daily routines to long-term planning, small adjustments can make a meaningful difference.

Join us on February 11 at 12 PM CT for a Talking With Your Pompe Peeps session led by guest moderator George Fox, a dad of a young adult living with Pompe disease. This peer-led conversation focuses on the real-life adaptations families and individuals make to support fuller, more meaningful lives.

Participants are invited to share what has worked for them and learn from one another’s experiences in a space built on understanding, trust, and connection.

We look forward to seeing you there! Register here

https://amda-pompe.org/our-adaptations-with-pompe-disease/

Pompe disease is rare. Support should not be.

Infusions can feel overwhelming at first — and then, over time, they become part of life. In this Talking With Your Pompe Peeps session, Alison Breitbarth (Grant’s Giants) will help us talk openly about what it looks like to normalize infusion day for kids and families — while keeping the conv...

01/29/2026

Join us tonight at 7pm central time to talk about 'muscle juice' infusion days. Share your stories, tips or just listen. Register to be sent link to join
https://amda-pompe.org/infusion-day-playbook-stories-tips-and-support/

01/28/2026

For many people living with Pompe disease, enzyme replacement therapy infusion days are part of everyday life. They can be long, tiring, and emotionally demanding, even once they become routine.

What are infusion days like for you, and what helps make those long days a little easier?

We are hosting a webinar this Thursday at 7pm CT focused entirely on infusion days, where patients and caregivers will share real stories, practical tips, and ways they make these days more manageable.

If infusion days are part of your life, you are not alone. Join us to connect, learn, and hear from others who understand.
https://amda-pompe.org/infusion-day-playbook-stories-tips-and-support/

Pompe Disease is rare. Support shouldn't be.

01/27/2026

Planning ahead when you or your child has Pompe disease often brings up difficult questions, especially around finances, long-term care, and protecting access to essential benefits.

One tool families may consider is a Special Needs Trust. When structured properly, it can help safeguard assets while maintaining eligibility for programs such as Medicaid and Supplemental Security Income. For many families, this kind of planning brings clarity and peace of mind during an otherwise uncertain process.

To support families navigating these decisions, we offer a printable Special Needs Trust Fund guide that explains how these trusts work, what they can cover, and why early planning can matter.
Pompe disease is rare. Support shouldn’t be.

We believe families deserve clear, practical information that helps them plan with confidence, both for today and for the future.

You can view and download the full Special Needs Trust Fund guide on our website here:

👉https://amda-pompe.org/wp-content/uploads/2023/12/SPECIAL-NEEDS-TRUST-FUND-December-2023.pdf

If you have questions or need help finding resources, you can always reach out to us through our website or on social media. We are here to help.