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Advancing Pompe Care: Patient Perspective

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Description

This program is supported by an independent educational grant from Amicus Therapeutics. This education program is designed for healthcare professionals globally (excluding the USA).

Who Should Attend?

This program is designed for global healthcare professionals involved in the diagnosis and management of Pompe disease, including:

  • Neuromuscular Specialists
  • Geneticists
  • Neurologists
  • Lysosomal Disease Specialists
  • Respiratory Physicians, Genetic
  • Counselors, Pediatricians,
  • Other healthcare professionals involved in Pompe Disease

Speaker

Kevin Annesley

A patient advocate with the Pompe Support Network. Since his diagnosis in 2008, Mr Annesley has participated in several clinical trials and serves as a Community Advisory Board (CAB) member for the International Pompe Association (IPA).

Program Schedule: Full Series

Module 1 – Diagnosing Diverse LOPD Phenotypes

Recognizing respiratory-only, axial-dominant, and presymptomatic presentations; applying phenotype-specific testing triggers and coordinating multidisciplinary referrals.

Please click here to access Module 1.

Module 2 – Monitoring Subclinical Progression

Integrating muscle MRI, diaphragm ultrasound, and digital activity data to detect early decline and individualize therapy adjustments in “stable” LOPD.

Please click here to access Module 2.

Module 3 – Applying Triple-S to Treatment Decisions

Using the European Triple-S framework and comparative evidence to guide therapy initiation, transitions, and shared care planning.

Please click here to access Module 3.

Module 4 – Expert Q&A: Real-World Challenges in LOPD Care

Faculty responses to HCP-submitted questions on early diagnosis, multimodal monitoring, shared decision-making, and navigating emerging therapies.

Please click here to access Module 4.

Interview with Patient Advocate (Current Module)

Faculty Disclosure Statement / Conflict of Interest

In compliance with EBAC guidelines, all speakers/ chairpersons participating in this programme have disclosed or indicated potential conflicts of interest which might cause a bias in the presentations.

The Organizing Committee/Course Director is responsible for ensuring that all potential conflicts of interest relevant to the event are declared to the audience prior to the CE activities.

Kevin Annesley has no financial interests, relationships, or affiliations in relation to this activity.

Participation Costs

There is no cost to participate in this program.

System Requirements

Mobile device (e.g., large-format smart phone; laptop or tablet computer) or desktop computer with a video display of at least 1024 × 768 pixels at 24-bit color depth, capable of connecting to the Internet at broadband or faster speeds, with a current version Internet browser and popular document viewing software (e.g., Microsoft Office, PDF viewer, image viewer) installed. Support for streaming or downloadable audio-visual materials (e.g., streaming MP4, MP3 audio) in hardware and software may be required to view, review, or participate in portions of the program.

Disclaimer

This activity is intended for educational purposes only and does not establish a standard of care or replace clinical judgment. Any therapeutic or diagnostic strategies discussed must be evaluated in the context of each patient’s clinical circumstances, risks, and current evidence.

Learners should consult authoritative clinical guidelines and approved product information when considering treatment decisions.

All materials are used with permission. The views expressed are those of the faculty and do not necessarily reflect those of the accredited providers, MedAll, or any supporters.

Content is accurate as of the date of release.

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Computer generated transcript

Warning!
The following transcript was generated automatically from the content and has not been checked or corrected manually.

I am really honored to be joined by Kevin Ainslie, who is a patient who has experienced Pompeii, uh, disease, and he's gonna share a little bit of his story with us today. Kevin, thank you for sharing your time and experience with us. We, we really appreciate it. I wondered sort of if I could begin, Kevin. I, I just want to, to, to ask if you could maybe share a little bit of um, uh, you know, your journey as a person living with Pompeii disease to our healthcare professional audience today. Yes, um, well, I, um, I'm 65 years old now. Uh, I've got diagnosed at the age of, or self-diagnosed at the age of 48. Um, and I've been on, um, ERT since that time. Um, I've been married for 35 years. I've got two children, um, both show no signs of pumping, which is, which is good, because, uh, I had them before. I even knew that I, I had a problem. Um, And I've been on several um Trials, um, as well, and I, sort of an advocate for er the diet and rehab, progression for, for the, er, Pompei community, so. That is a, in a nutshell up to now, so, uh, um, I can take you through my, my diagnosis journey. If you prefer. Sure, I'd, I'd really love to, to dive into that and, um, and it's a really, um, um, natural next step to kind of discuss, um, because Pompeii can present in really diverse ways, um, sometimes leading to, Really significant diagnostic delays, are you able to tell us a little bit about perhaps what your first symptoms were, what was that process of, of getting an accurate diagnosis? Well, my first symptoms were that um, But it was, that was when I was really, really young, and I couldn't speak when I actually went to school at the age of 5 and um, It took me quite a few years to actually Get up to speed, uh, with, with my speech, uh which obviously had some psychological effects on me and, and probably out of all the things that affect me the most in my lifetime, that is probably the one. Uh, That that got missed and even when I was being diagnosed, it, it, it got missed as well. Um, I never asked me about, about the actual uh history. Going right back and, and looking back at my life as a um, As a kid I was quite sporty, but I was always hitting ceilings, couldn't really get to where I really wanted to go, and um you just think it's you, it's unfortunately, but anyway, at the age of about 38, I, I got up to run. On the beach, I just fell over, and since that day, I wouldn't be able to run at all, so, um, we, we sort of declined. Major decline started there, but at the back of my brain, I think they were saying, I told you something, something was wrong. And, um, so I, I went to, uh, my GP and he sent me to a podiatrist. He looked at my feet and couldn't see anything more than my feet, so, um, then I, I've done some private sort of um, uh, work with, um, physios, they seemed to think it was a, a, a, um, A, a brain, uh, or, or sort of connection problem with the brain to, to the muscles, um, and then I went back to the doctors and in the end I got, Um, Uh, referred to a specialist, um, it, but more, more to do with the actual, the, the brain rather than the muscles. I went to see them. And they thought, no, it's not, it's, it looks like it's, it's a neurovascular problem. So then I, I got, uh, rerouted, um, to another hospital. When I first saw him, you had um uh uh. Uh, electrical test on my legs and I don't on my, on my right leg, which is a bit dead anyway, and uh I didn't get much electrical stimulation and um I thought it was SMA so you go through all the testing for that. It will come back negative, um, and while you're going through this, it just takes time after time, so I mean, every time we get, uh, what they think is a diagnosis or, or a test for it, it, it takes about, 9, 10 months to actually go through through the testing and all the rest of it, I mean, To read book and go back to see them and so that I can have another guest. Or, or no, no, try, try and sort of, uh, to, um, assess what, what's wrong with you sort of thing. So, um, so, uh, back come back. So then I went back and then they thought it was. Um, I guess must be disagree. Uh, that got tested and come back negative. Uh, there's another one I can't pronounce, uh, um, so, uh, that was tested for and then that, that come back as, um, Exist and when like. Stumum for Limgole. Um, must be just sleep. And that came back negative. So I asked for a second opinion and I went up to Oxford. And so the head guy there, he assessed me and He said he he thought it was gonna go, um. One of the Things that I Don't suffer so badly with it does, it is affected, but my, my grieving is, Pretty good and that is what they tend to look for with Pompey, if, if you've got a breathing, Inability that you wake up with headaches or you find it very hard to actually breathe when you're laying down. It's, it's, that's what I, I tend to look for for Pompeii, um. But it affects my tongue and it affects my throat, but. Touch wood, it's um, Um, hasn't really affected my, my number, although it's not normal, it's just below normal, so, um, I'm quite fortunate from that point of view, but I think that's what a lot of specialists of the actual diagnosis of, so. Um, after going to Oxford, um, and he said, I think it's incredle, and I thought I was just sort of pigeonholed because all the tests were negative. And by then, after 5 years, I've, I've been misdiagnosed, in my opinion. Um, I decided to go and do my own little bit of research. I was just looking and I come across this article online saying um Uh And go to um MJ. Can be a misnomination for Pompeii, so I thought I'll watch Pompey, so I, I looked into that. I went back to my uh specialist in uh. Oxford and uh said Ob. Do you think it could be Pompeii? And he said, take my hat if you, uh, if it's Pompeii. So he, he, he'd done some testing. And um, He'd come back and he um. And he Um, Said there could be a possibility of that, so then it took another, another sort of 6 months to, um, I get my actual diagnosis, and I've got my diagnosis back. On the 14th of uh Good boy. Valentine's Day, um, on 2008, so yeah. So and it but a lot of people they feel like they, they sort of. Really crushed by, by the diagnosis, but because I've been through, for it and that I actually come up with, with what I thought it was, it was a bit of a triumph for me, so, and also there was a treatment, um, uh, for it as well, which there wasn't one for, um, Uh-huh, I go, so. And uh that's, that's where it took me. In our education today, we've been covering the use of