Acid Maltase Deficiency Association - AMDA

01/23/2026

Are you living with late-onset Pompe disease? Make your voice heard and contribute to research!

The IPA / Erasmus MC Pompe Survey is one of the largest and longest-running studies collecting patient-reported experiences of Pompe disease. By completing the questionnaire, you help researchers better understand aspects of living with Pompe disease that are not always captured by hospital tests.
As new enzyme replacement therapies (ERTs) become available, understanding how treatments work in daily life from the patient perspective is more important than ever.

What is the Pompe Survey?
The Pompe Survey is an annual online questionnaire that collects information on the effects of Pompe disease and its treatment on patients’ lives. The survey asks questions about physical health, quality of life, social participation, and treatment.

Why is the Pompe Survey important?
Your responses help:
Show how Pompe disease affects everyday life
Compare how different treatments are experienced by patients
Identify ongoing challenges and unmet needs
Support clinicians in improving patient care
Guide the development of future treatments

By taking part, you ensure that patient experiences remain central to Pompe research.

The Pompe Survey Team is especially seeking participants from the UK, US, Australia, and Canada.

Interested?
Complete the form here to receive more information and enroll: https://clmz.nl/en/register-for-the-pompe-survey

01/22/2026

Anxiety affects everyone. But how it is experienced and managed can look very different for someone living with Pompe disease.

For many in the Pompe community, anxiety is closely tied to the body. Changes in breathing, fatigue, muscle weakness, medical appointments, and long-term uncertainty can all contribute. Managing anxiety often means choosing tools that respect physical limits while still offering relief.

Some anxiety supports that many people with Pompe find helpful include:

• Breathing awareness, focused on slow, gentle breaths without forcing or breath holding
• Pacing and planned rest, especially when physical fatigue increases anxiety
• Predictability, such as preparing for appointments or routines ahead of time
• Gentle movement, when appropriate and guided by medical advice
• Stress balls or hand-held grounding tools, which can help release nervous energy and provide sensory focus without physical strain
• Writing or mental check-ins to help process worries that often go unspoken
• Connection, through trusted people or shared experiences within the Pompe community

Pompe disease is rare. Support shouldn’t be.

We are here to help by offering education, resources, and connection for individuals and families navigating both the physical and emotional sides of Pompe disease.

If anxiety is something you are dealing with, you can always reach out to us through our website or on social media. We are here to listen and help.

01/21/2026

We were recently honored to receive a message from Dr. Jaymin Amin sharing words written by his PhD student, Raquel van Gool, as she prepares to defend her doctoral thesis. Raquel has been deeply involved in Pompe disease research, and her acknowledgements reflect the heart behind the science.

In her own words, Raquel expressed gratitude to the patients and families who placed their trust in research, including parents who continue to give even after unimaginable loss. She spoke of children for whom life has been unfair, of brave parents, and of a community whose shared experiences continue to move science forward. Her words are a powerful reminder that progress in rare disease research is built on courage, connection, and collaboration.

She also acknowledged the role of patient advocacy organizations, including Acid Maltase Deficiency Association, for helping connect families, clinicians, and researchers. A special tribute was shared for Tiffany House, whose dedication to the Pompe community continues to inspire researchers and advocates alike.

Pompe disease is rare. Support shouldn’t be.
We are proud to stand alongside researchers and families as a trusted resource, helping move studies forward and supporting patient outreach that leads to real progress.

If you ever have questions or want to learn more about research opportunities, you can always reach out to us through our website or on social media. We are here to help.

01/15/2026

Webinar is today! 1pm CT. It’s not too late to register! See you there.

Our grief literacy post and article made such a wide impact WE ARE HOSTING A WEBINAR.
Join grief activist and bestselling author Lisa Keefauver—narrative-therapy trained social worker, keynote speaker, and host of Grief Is a Sneaky Bitch—as she shares powerful insights on how to reframe loss, navigate complexity, and center aliveness in a world full of grief.

REGISTER FOR THE WEBINAR https://us06web.zoom.us/webinar/register/WN_cFPBiyN8RUGpecAzZU_dXw #/registration

Read our grief article inspired by her work https://amda-pompe.org/grief/

01/13/2026

In an emergency, people with Pompe disease may not be able to explain their condition, medications, or critical care needs. That moment matters.

That is why we provide clear, accessible emergency medical information and Medical Alert Cards designed specifically for Pompe disease. These tools help first responders and medical teams quickly understand what Pompe is and what should be considered during urgent care situations.

We will send one to you or you can print one at home. No charge.
https://amda-pompe.org/emergency-medical-information/

Pompe disease is rare. Support shouldn’t be.

01/08/2026

With Gratitude: Honoring Our 2025 Donors

Today we want to shine a spotlight on the incredible generosity of the people, families, and organizations who stood with the AMDA in 2025. Because of you, we continue to fund research, raise awareness, and support the Pompe community around the world. Your contributions — big and small — move us closer to a future where no one faces Pompe disease alone. 🙌
AMDA Pompe

Thank you for fueling hope, progress, and connection.

Together, we are
AMDA Pompe
See our supporters here: amda-pompe.org/news

01/07/2026

Our grief literacy post and article made such a wide impact WE ARE HOSTING A WEBINAR.
Join grief activist and bestselling author Lisa Keefauver—narrative-therapy trained social worker, keynote speaker, and host of Grief Is a Sneaky Bitch—as she shares powerful insights on how to reframe loss, navigate complexity, and center aliveness in a world full of grief.

REGISTER FOR THE WEBINAR https://us06web.zoom.us/webinar/register/WN_cFPBiyN8RUGpecAzZU_dXw #/registration

Read our grief article inspired by her work https://amda-pompe.org/grief/

01/06/2026

The hardest part of living with Pompe disease is not always the diagnosis.

It’s navigating appointments, insurance approvals, treatments, equipment, and decisions that never seem to slow down.

That’s where guidance matters.
AMDA exists to help families make sense of the medical system, ask better questions, and feel more confident advocating for care.

You do not have to figure it all out alone.

01/06/2026

Available to watch now!

Enhance your expertise in recognizing and managing late-onset Pompe disease (LOPD).

✔️Identify patients with LOPD using the latest diagnostic criteria, enzyme-activity testing,
and genetic analysis
✔️Compare mechanisms of action and long-term outcomes of current therapies
✔️Review new safety and efficacy data, including patient-reported outcomes
✔️Build individualized treatment plans through multidisciplinary care and shared decision-
making

https://bit.ly/46deLHW

01/02/2026

If your baby or young child has a G-tube, chances are you’ve already faced moments that felt overwhelming or unexpected.

Skin irritation around the site.
Leaking.
Granulation tissue that looks alarming.
A tube getting tugged or coming out.
Feeds that don’t always go smoothly.

These experiences are common. They are not a sign that you are doing something wrong.

For many families, especially those caring for children with Pompe disease, feeding tubes are an important tool. They support growth, protect respiratory health, and reduce the physical strain that eating can place on small, hardworking bodies.

That doesn’t mean it’s easy.
There is a learning curve, emotional weight, and a lot of responsibility that comes with tube feeding. Parents often carry questions they don’t know who to ask, or worries they assume they should already understand.

You are not expected to figure this out alone.

You are doing an incredible job.

And support from us is always within reach.

01/01/2026

The holidays can be joyful, but they are also demanding.
Crowds, noise, travel, disrupted sleep, and emotional highs and lows keep the nervous system in a prolonged stress response.

When this happens, the body has less opportunity to regulate breathing, restore energy, and support immune function. Research shows that intentional rest helps activate the parasympathetic nervous system, allowing the body to recover and reset.

For individuals living with Pompe disease, nervous system regulation is especially important. Ongoing muscle fatigue and respiratory effort already place added demands on the body, making recovery time essential rather than optional.

As the new year begins, AMDA is here to support you with reliable information, trusted guidance, and connection to professionals and families who understand this journey. Whether you are navigating medical care, insurance, or treatment systems, you do not have to do it alone.

Slowing down is not indulgent.
It is how the body heals.

12/31/2025

As this year comes to a close, many people reflect on what they are leaving behind and what they are carrying forward.
For some, this year brought progress and milestones.
For others, it brought challenges, uncertainty, or quiet perseverance that few people ever see.

However you are ending this year, your experience matters.

As we move into a new year, we want you to know that you do not have to navigate it alone. The AMDA exists to support, connect, and guide individuals and families affected by Pompe disease. Whether that means helping you understand the medical landscape, navigate insurance and treatment access, or simply connecting you with others who understand this journey, we are here.

New Year’s Eve does not have to be loud or symbolic to be meaningful. Sometimes it is simply a moment to pause, breathe, and acknowledge everything your body and mind have carried through the past twelve months.

As we step into the new year, we remain committed to being a trusted resource, a point of connection, and a steady source of support for this community.

Wishing peace, steadiness, and strength to you and your loved ones in the year ahead.