Build trusted partnerships with your patients: LSD clinical case examples to guide patient-centred conversations

An introduction to this resource
Meet our patient cases
Meet Mike
Meet Alice

This resource uses hypothetical patient cases to demonstrate how the patient-focused questions from the ‘Guide to patient-centred dialogue in LSD care’ document aims to support the care of individuals with an LSD by fostering patient empowerment and shared decision making.

This is intended as an HCP educational resource and has been developed based on discussions with HCPs at the ‘Pathways to empowerment – Supporting LSD patients’ well-being’ meeting held in February 2025 and on well-established frameworks for successful patient engagement.^1–3

Explore the associated ‘Guide to patient-centred dialogue in LSD care’ document and the ‘8 actions to enhance LSD care’ infographic.

Click on the thumbnails to explore the associated resources

Footnotes

HCP, healthcare professional
LSD, lysosomal storage disorder

References:

NICE guideline. Shared decision making. Published 17 June 2021. Available at: https://www.nice.org.uk/guidance/ng197/resources/shared-decision-making-pdf-66142087186885. Accessed: November 2025.
EURORDIS. Rare Barometer questions repository. Published July 2022. Available at: https://www.eurordis.org/publications/speak-up-listen-up-follow-up-guide-a-brief-guide-for-rare-disease-patient-organisations-on-how-to-listen-to-the-community/. Accessed: November 2025.
McDool E, et al. Orphanet J Rare Dis. 2024;19:252.

Click on a patient image to navigate to the specific case

Mike

A 22-year-old male with Fabry disease who is disengaging with healthcare services

Alice

A 15-year-old female with Fabry disease who has needle phobia

Patient case overview: Meet Mike

Mike lives at home with his family in London, UK and is currently working in a sales role. Mike was diagnosed with Fabry disease at 15 years old after screening due to his mother’s diagnosis – he’s now in his early 20s, and his condition is reviewed annually. His mother and younger brother also attend clinic visits but are seen separately.

Mike’s mother has left ventricular hypertrophy and has been regularly receiving ERT; however, over the past 12 months, her condition has progressed, and she was recently admitted to hospital due to cardiac complications.

Mike has been avoiding appointments, expresses denial about his condition, and exhibits signs of depression. His mother has expressed her concern and frustration at Mike’s lack of engagement. She believes that the recent progression of her illness has significantly impacted Mike’s mental health and future outlook. Mike is aware that male patients with Fabry disease typically develop cardiac complications earlier and more severely than females.

What key background information would you gather about Mike? Why might Mike be disengaging with healthcare services? What could help to improve Mike's engagement with healthcare services?

These questions are intended to encourage reflection on Mike’s individual challenges and unmet needs, and to explore how best to support and empower him in managing his care. Responses will be subjective, and any barriers to care should be considered in the context of each patient’s unique circumstances.

Q: What background information would you gather about Mike to better understand why he is disengaging from healthcare services?

This question is intended to encourage reflection on Mike’s individual challenges and unmet needs, and to explore how best to support and empower him in managing his care. Responses will be subjective, and any barriers to care should be considered in the context of each patient’s unique circumstances.

A: Current emotional and psychological state

Understanding Mike’s mental health is crucial to inform productive discussions going forward. His emotional distress could be undermining his capacity to make informed decisions and contribute to his disengagement

B: Experience with Fabry disease and beliefs about the disease and treatment

Placing Mike at the centre of his care requires an understanding of his beliefs and experiences, eventually allowing you to gently challenge unhelpful beliefs and promote realistic decision-making

C: Role of Mike’s family in his care and the family dynamics

This could help uncover more about his mother’s involvement in his care and whether this is supportive or overwhelming, and determine if there is space for joint discussions to align understanding

D: Biomarkers such as lyso-GB3 levels

Whilst an important marker of disease progression and treatment response, it’s not the root cause of Mike’s disengagement. However, this could become relevant when discussing the potential health risks of missed appointments with Mike

Please select at least one answer

What key background information would you gather about Mike?

Q: What would be the most appropriate way to begin your conversation with Mike, keeping in mind his recent disengagement with healthcare services?

A: Acknowledge how difficult the last year has been for Mike

By empathising with Mike’s situation without judgement, you can begin to re-establish trust and validate his experiences

B: Explain the risks of missing appointments and the long-term health consequences

Whilst true from a clinical perspective, leading with this approach risks Mike shutting down

C: If he seems quiet, invite his mother to join the conversation and let her speak on his behalf

This would undermine Mike’s autonomy and could further erode his confidence or willingness to engage

D: Use open-ended questions to explore his concerns and perspective

Open-ended questions allow Mike to express himself in his own words, will make him feel more in control and could uncover what is really driving his disengagement

Please select at least one answer

Why might Mike be disengaging with healthcare services?

Q: How might the progression of his mother’s illness affect Mike’s engagement with healthcare services and perceptions about his own health?

A: It may increase Mike’s motivation to seek early treatment

Whilst this could be true for some individuals, the information we have about Mike would suggest the opposite is true

B: It might reinforce Mike’s fears about the future, leading to avoidant behaviours

Witnessing the deterioration of his mother’s health may intensify feelings of anxiety or a sense of hopelessness, and may be associated with Mike’s avoidant behaviours about his own health

C: It has no real bearing on Mike’s perceptions about his own health

It’s likely that the health experiences and perceptions of Mike’s family will have some influence on his own experiences and perceptions

D: It may lead Mike to believe that treatment will not be effective for him

This perceived ineffectiveness could further undermine Mike’s motivation to engage with healthcare services

Please select at least one answer

What could help improve Mike’s engagement with healthcare services?

Footnotes

ERT, enzyme replacement therapy
Lyso-Gb3, globotriaosylsphingosine
HCP, healthcare professional
MPS, mucopolysaccharide

Patient case overview: Meet Alice

Alice was referred to specialist services when she was 9 years old. She is now 15 and attends clinic annually with her mother for review. Alice is an only child, and her father passed away last year due to complications resulting from late-diagnosed Fabry disease, which was identified only after significant organ involvement. Alice lives at home with her mother in a village close to Manchester, UK and is at secondary school.

Alice struggles with ERT infusions due to needle phobia and has successfully completed only three full infusions. She reports that she has not noticed any benefits from the infusions and is reluctant to restart treatment.

At the same time, Alice reports worsening acroparesthesia and increased frequency of Fabry crises. Clinically, she has newly developed angiokeratoma, and her lyso-Gb3 levels are elevated. Despite this, she states that she is not ready to recommence treatment and appears hesitant about future appointments.

Alice’s mother is highly distressed and insists that Alice needs to start ERT again. She has expressed frustration and concern about Alice’s reluctance to engage with treatment.

What key background information should be gathered about Alice? Why might Alice be reluctant to recommence ERT? What could help to improve Alice’s engagement with healthcare services?

These questions are intended to encourage reflection on Alice’s specific challenges and unmet needs, and to explore how best to support and empower her in re-engaging with treatment and clinic care. Responses will be subjective, and any barriers to care should be considered in the context of each patient’s unique situation.

Q: What background information should you explore to better understand Alice’s hesitancy to engage with treatment and clinic care?

Select the option(s) that you consider important

A: Emotional wellbeing, including how grief, fear and past experiences may be influencing Alice’s views on treatment

Alice’s emotional state is likely shaped by multiple factors, including grief after her father’s death and fear linked to past treatment. Understanding these feelings is key to building trust and supporting re-engagement

B: Past experience with ERT infusions and beliefs about their usefulness

Alice’s limited exposure to ERT and needle phobia may have reinforced a belief that treatment is distressing and ineffective. Exploring this may help address unhelpful assumptions and shape future care discussions

C: Whether Alice has received updated educational materials about Fabry disease

While accurate information can support understanding, a lack of educational resources alone is unlikely to explain Alice’s current hesitancy. This appears more closely linked to emotional factors, past treatment experiences and family dynamics

D: Alice’s role in her care and how confident and supported she feels within her family dynamic

Alice’s mother strongly encourages treatment and may be highly involved in her care. It’s important to explore how this affects Alice’s sense of autonomy, including whether she feels supported, overwhelmed and/or unheard

Please select at least one answer

What key background information would you gather about Alice?

Q: What should you keep in mind when trying to understand Alice’s reluctance to recommence ERT?

Select the two most appropriate considerations from the options below

A: Her resistance may be a way of expressing control during a time when she feels powerless

Refusing treatment may be serving as a coping response and helping Alice feel more in control amid fear, grief and past difficult experiences with care

B: She may not fully understand how ERT works or the long-term implications of untreated Fabry disease

Alice may lack a clear understanding of the benefits of ERT, which may reinforce avoidance

C: She may be avoiding treatment because she doesn't feel any worse without it

While Alice may say this, her increasing symptoms suggest her reluctance is more likely linked to emotional distress or fear

D: Her reluctance may stem from conflict with her mother over treatment decisions

Family tension may influence engagement, but focusing on this alone may risk missing deeper drivers like fear, grief and a need for autonomy

Please select at least one answer

Q: How might Alice’s age influence her treatment decisions?

Select the two most appropriate considerations from the options below

A: She may be more likely to resist control

Adolescents may resist treatment as a means of asserting autonomy and independence. This may be more likely when they feel decisions are being made for them rather than with them

B: Adolescents are typically compliant with treatment

Adherence is often challenging in adolescents, especially when treatment interferes with daily life or is perceived as being imposed

C: She may be more prone to taking risks

Due to ongoing cognitive and emotional development, adolescents may focus more on immediate experiences than long-term consequences, leading to risk-taking behaviours

D: She should not be making decisions about treatment at her age

While Alice may need guidance, empowering her to take part in shared decision-making may help foster engagement and adherence

Please select at least one answer

Why might Alice be reluctant to recommence ERT?

key-discussion

Q: How might the experience of losing her father to Fabry disease shape Alice’s beliefs about her own treatment?

Select the option(s) that you consider important

A: She may believe treatment won’t help and feel emotionally disconnected from its purpose

Her father’s late diagnosis and deterioration may have led her to question whether treatment can truly change outcomes

B: She may worry that she is destined to follow the same path

Adolescents processing trauma may develop fatalistic beliefs, contributing to a sense of hopelessness

C: She is likely taking comfort in knowing her condition was caught earlier

While this could eventually be a helpful reframing, it’s unlikely to shape her current beliefs while she is still grieving and disengaged

D: She may view ERT as something that failed her father and could fail her too

If Alice's father received ERT late in his illness, she may associate treatment with decline rather than improvement. This emotional association may be compounded by her own needle phobia, making ERT feel both frightening and futile

Please select at least one answer

What could help to improve Alice’s engagement with healthcare services?

key-discussion

Footnotes

ERT, enzyme replacement therapy
Lyso-Gb3, globotriaosylsphingosine