Acid Maltase Deficiency Association - AMDA

03/30/2026

03/27/2026

When a child with Pompe disease gets sick, a hospital stay can sometimes follow.

And while the focus is always on care and recovery, the environment matters more than we often realize.
Families in the Pompe community have shared thoughtful and creative ways to make hospital rooms feel a little less clinical and a lot more comforting:

• Coloring books, sticker sets, puzzles, and activity kits
• Balloons or small decorations to brighten the room
• Star projectors or soft lights that transform the ceiling
• Fun lamps like lava lamps or color-changing lights
• Tablets with favorite shows, games, or audiobooks
• Cozy items from home like blankets, stuffed animals, or pillows
• “Surprise” treats or new activities for each day
• Letting kids personalize their space with drawings or photos

These small touches can shift the experience.
From unfamiliar… to something that feels a little more like home.

One of the most powerful things in this community is learning from each other.

If you’re comfortable, drop a photo of your child’s previous hospital setups in the comments or some of your favorite items for sprucing up a hospital stay. It could help another family who is walking into this for the first time and doesn’t know what to expect.

Pompe disease is rare. Support shouldn’t be.

03/26/2026

There’s a conversation happening in the Pompe community right now and it’s a powerful one.

People are planning trips.
Taking cruises.
Heading off to college.
Going to concerts.
Saying yes to experiences that once felt uncertain.

Living with Pompe disease comes with real considerations. Planning ahead for infusions, managing energy levels, coordinating care in new places. But it also comes with possibility.

We’re seeing more and more individuals asking not “Can I?” but “How can I make this work?”
That shift matters.

At AMDA, we’re here to support that kind of living. Whether it’s helping you think through logistics, understand your care needs while traveling, or learn from others who have done it before, you don’t have to navigate it alone.

Would you like to have a Talking With Your Pompe Peeps sessions or webinar about this topic? Let us know in the comments!

03/24/2026

Not all therapy looks like therapy.
Sometimes, it looks like a guitar, a mic, and a moment on stage.

This month, as we celebrate creativity, we’re spotlighting someone you probably already know… just in a different light.

Lucas Garrett is a writer, a leader in our community conversations, and a familiar voice behind AMDA content. But he’s also a musician, and this is what creativity looks like for him.

There’s something powerful about having an outlet that’s yours. Something that lets you step outside of appointments, routines, and the weight of managing a rare disease. Creativity gives you space to feel like you again.
And that’s what we love about this.

Because in the Pompe community, creativity isn’t just talent. It’s resilience. It’s expression. It’s identity beyond a diagnosis.

You can learn more about Lucas and explore our 'Meet The Artist' section in our March newsletter

https://amda-pompe.org/wp-content/uploads/2026/03/AMDA_March_2026_Newsletter_Reduced.pdf

03/23/2026

Infusion days come with their own routines… and everyone does it a little differently.

One topic that comes up often in the Pompe community is numbing cream before accessing a port.

Some people use it every time.
Some have tried it and stopped.
Some have never used it at all.

There’s no one “right” answer. It often comes down to comfort, preference, and what works best for your body and your routine.

This is something that recently came up in one of our Talking With Your Pompe Peeps conversations, and it sparked a lot of great discussion.

So we’re curious…
Are you:
• Team numbing cream every time
• Only when needed
• Tried it, not for me
• Never used it

Drop your answer below and share your experience. You never know who it might help.

And if you’re not part of these conversations yet, we’d love to have you join us for an upcoming session.

Pompe disease is rare, support shouldn’t be.

03/20/2026

For many in the Pompe community, enzyme replacement therapy is part of life. And for some, a portacath can make that process more consistent, more comfortable, and more manageable over time.
When it comes to Pompe infusions, most patients who have a port use a single-lumen port, typically placed in the chest. This setup provides reliable, long-term access for routine enzyme therapy.
While you may hear about different kinds of ports, the focus for most Pompe patients isn’t on multiple types, but on how well your specific port works for you.

Even within single-lumen ports, there can be small differences:
• Size and profile (how much it sits above the skin)
• Placement and depth under the skin
• Design depending on the manufacturer

These decisions are usually made based on your body, age, and treatment needs.
Beyond the type of port, the details that matter most are often the ones that aren’t talked about enough.

It’s important to know the correct needle size and length for your port. The needle used to access a port (called a Huber needle) comes in different sizes, and using the right one helps ensure proper access, reduces discomfort, and protects the port over time.

Just as important is proper care before and after each infusion:
• Cleaning the site thoroughly
• Following sterile protocols
• Flushing the port as directed

You may also want to ask your care team about heparin use after infusions, which is sometimes recommended to help prevent clotting and maintain proper port function.

These are the kinds of real, practical conversations that came up during our recent Talking With Your Pompe Peeps session. Hearing from others who have firsthand experience can bring clarity to details that don’t always get explained in depth.

At AMDA, we’re here to help you stay informed, connected, and supported as you navigate care decisions.

Pompe disease is rare, support shouldn’t be.

If this was helpful, we hope you’ll join us for upcoming webinars and future Talking With Your Pompe Peeps sessions.

03/18/2026

Tomorrow at 1 PM CST, we’re opening up an important conversation for the Pompe community.

For many living with Pompe disease, enzyme replacement therapy is part of life. But how that therapy is delivered can make a meaningful difference.

Join us for a Talking With Your Pompe Peeps session as we take a personal look at the benefits of having a portacath. Led by Lucas Garrett of AMDA, this discussion offers real-world insight from someone who has firsthand experience navigating infusions with a port.

If you’ve ever wondered whether a portacath might make treatments easier, or you simply want to learn from others in the community, this is a conversation you don’t want to miss.
This is your reminder to register now and save your spot before tomorrow’s session.

https://amda-pompe.org/a-personal-look-at-the-benefits-of-having-a-portacath/

AMDA is here to help you better understand your options and feel more confident navigating care decisions.

Pompe disease is rare, support shouldn’t be.

03/17/2026

Happy St. Patrick’s Day 🍀

Here’s a little “lucky” knowledge worth holding onto…
Pompe disease doesn’t just affect muscles you can see. It also impacts the muscles you don’t think about every day, like the ones that support breathing.

That’s why things like:
• Staying up to date on vaccines
• Monitoring respiratory function
• Paying attention to small changes in energy or breathing
can make a meaningful difference over time.

Sometimes it’s not the big moments.
It’s the small, informed decisions that add up.
At AMDA, we’re here to help make those decisions easier by sharing trusted information, guidance, and resources you can actually use.

Pompe disease is rare, support shouldn't be.

What’s one thing you’ve learned about Pompe that changed how you approach your care?

03/16/2026

One of the most important areas doctors monitor in Pompe disease is respiratory function.

Pompe disease weakens skeletal muscles throughout the body, including the diaphragm, the primary muscle responsible for breathing. Because this weakness can develop gradually, many people may not immediately notice the early changes.

That is why specialists often track breathing function using tests such as:

• Forced Vital Capacity (FVC) – measures how much air you can exhale after a deep breath
• Supine FVC – the same test done while lying down, which can reveal early diaphragm weakness
• Maximal inspiratory and expiratory pressures – measuring respiratory muscle strength
A significant drop in FVC when lying down compared to sitting can be an early sign that the diaphragm is being affected.

These measurements help doctors determine:
• how Pompe is progressing
• when respiratory support may be helpful
• how well treatments like enzyme replacement therapy are helping preserve function

Understanding what these numbers mean can empower patients and families to ask better questions and stay actively involved in their care.

AMDA stays closely connected with leading Pompe experts and research so we can help translate complex medical information into practical understanding for the community.

To learn more about respiratory health watch our past webinar with Andrea Klein https://amda-pompe.org/overview-of-breathing-muscle-weakness-in-neuromuscular-disease-nmd/

03/09/2026

A New Gene Therapy Approach Could Help Overcome a Major Barrier

One of the biggest challenges in gene therapy today is something called pre-existing immunity.

Many people already have antibodies to the viral delivery systems used to deliver gene therapy. When that happens, the body may block the therapy before it can work. It can also make redosing nearly impossible, which is a major limitation for long-term treatment strategies.

A new study is exploring a potential way around this barrier.

Researchers developed a new gene therapy delivery vector called AAV.div3A, derived from a distant dependoparvovirus related to a Muscovy duck virus. Because it is so different from commonly used viral vectors, it appears to avoid the antibodies many people already have.

The team then engineered a second version called AAV.div3A-M1, designed to target muscle more effectively while avoiding the liver.

In a Pompe disease model, redosing with these vectors significantly increased levels of the therapeutic GAA enzyme. This suggests that new vector designs may one day expand patient eligibility for gene therapy and potentially allow treatments to be given more than once.

Because research like this raises important questions for the Pompe community, AMDA will be hosting a webinar in April focused on this study and what it could mean for future gene therapy approaches.

If you would like to attend, make sure you are subscribed to AMDA updates so you do not miss the announcement when registration opens. https://preview.mailerlite.io/forms/1684144/160645743302936011/share

Pompe disease is rare. Support shouldn’t be.

03/03/2026

For many individuals living with Pompe disease, infusion access becomes an important part of long-term treatment. A Portacath is one option that can make ongoing infusions more manageable, but deciding whether it is right for you can feel overwhelming.
That’s why we’re highlighting real voices and real experiences.

Register to be part of the conversation hosted by our very own Lucas Garrett March 19 - 1 PM CST
👉 https://amda-pompe.org/a-personal-look-at-the-benefits-of-having-a-portacath/

During this conversation, you’ll learn:
• What a Portacath is and how it works
• Potential benefits and considerations
• Lived experiences from the Pompe community
• Things you may want to discuss with your care team

These stories help us understand the why behind medical decisions — and support others facing the same questions.

At AMDA, we are committed to connecting you with meaningful education, community insight, and support you can trust.
Pompe Disease Is Rare. Support Shouldn’t Be.