Pompe Disease

My Pompe JourneyMy diagnosis and living with Pompe
What causes Pompe?Understanding the cause of Pompe
Medical Alert PageA first stop for emergency service workers to understand Pompe Prior to starting treatment
- Medical Alert Page in Italian a translated copy of the medial alert page in Italian
Specialist Services and Treatment TeamsUnderstanding which specialist teams might be involved in your Pompe care.
History of PompeUnderstanding the man that discovered Pompe.
Knowledge Shares – Late Onset PompeLOPD Information about Pompe Disease
LinksUseful links to relevant sites
Eating Well for Pompe HealthA simple guide to suggestions for eating foods that can help in living with Pompe and maintaining muscle well being
Mental Wellbeing and PompeA simple booklet that offers mental well being ideas on living with Pompe
Falls Prevention Information SheetsA simple to use information booklet on the reasons people fall, issues surrounding falling and falls prevention.
Hope Travels – The Children’s Sloth ProjectAiming to give every child in the world with Pompe as soft toy called Hope that they can use to comfort themselves, be a mascot for hope in the future and take with them to medical appointments
Advanced Care Planner
Pompe Meal Planner
Oxygen Caution
Patient Voice

Patient Voice

Your experience. Your words. Your story.

Patient Voice helps people living with muscular dystrophy, including Pompe Disease, share the real experience of diagnosis, treatment and everyday life.

View the Questions

Start / Register

What is Patient Voice?

Patient Voice is a secure story-building platform designed to capture what it is really like to live with a muscular dystrophy or related condition. It goes beyond a medical history to record the person’s diagnosis journey, symptoms, treatment experiences, daily life, support, achievements and hopes for the future.

Your diagnosis journey

Tell us about your first symptoms, diagnostic delays, previous diagnoses and the journey to receiving the correct diagnosis.

Life with your condition

Describe fatigue, mobility, treatment, respiratory or nutritional experiences, education, employment, relationships and everyday life.

What makes a difference

Share the support you’ve received, gaps in support, adaptations, achievements, lessons learned and advice for others.

How it works

1. Tell your story — answer questions at your own pace and save your progress.
2. Give AI consent if you choose — AI assistance is optional and is only used when you actively consent.
3. Review your draft — AI creates a draft from the information you provide; it does not decide what your story means.
4. Make it yours — correct, edit or change anything you want.
5. Approve your story — your story remains under your control.

Privacy and security

Patient Voice is designed so that patient information is stored separately from the public Pompe Wales website. Secure authentication, database access controls and server-side processing are used to protect individual stories. AI processing requires specific consent and generated stories remain drafts until the patient reviews and approves them.

Three simple steps

1. View the Questions

See the areas covered by the Patient Voice questionnaire before you register.