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People doing things: Reflections of an OT in the field of rare diseases

People doing things: Reflections of an OT in the field of rare diseases - Variant Transthyretin Amyloidosis - The Occupational Therapy Hub

How often have we heard:

  • "Sign up for an activity!"

  • "You should get out more."

  • "Don't you think you spend a lot of time doing nothing? Go for a walk"

  • "You need to start a new routine."

  • or "I'm worried about you."

These are expressions commonly used to attempt to 'motivate' someone to do something. However, a number of questions come to my mind: What am I signing up for? When? Where? How? With whom? And why?...


What we do is part of who we are

What we do is part of who we are - People doing things. Reflections of an OT in the field of rare diseases - The Occupational Therapy Hub

I am writing this as an occupational therapist (OT). I wonder why people know so much about the properties of aspirin, for example, but not about the make-up and importance of occupation, sleep, habits, roles and routines; certainly not about the properties of everyday life activities.

Four years ago, I started a journey through a 'strange' world. I am an occupational therapist, specialising in mental health. My PhD in Psychology focused on researching the daily lives of people diagnosed with a rare disease: Variant Transthyretin Amyloidosis.

I started by studying the condition, although after some time I became immersed in others, such as other Amyloidoses, Tuberous Sclerosis, Familial Spastic Paraparesis and Epidermolysis Bullosa (known as 'Butterfly Skin').

How lucky I was!


Daily life

Variant Transthyretin Amyloidosis is a rare genetic disease, complex to understand and with a variable prognosis. It was first described in 1952 by the Portuguese neurologist Corino Andrade as a peculiar form of peripheral neuropathy.

In Europe, the incidence of Variant Transthyretin Amyloidosis varies widely. In Portugal, Sweden, Majorca and Cyprus, Variant Transthyretin Amyloidosis with Polyneuropathy is endemic and one particular mutation predominates - Val30Met.

Low prevalence, little research and therefore little understanding. That is the reality.

Variant Transthyretin Amyloidosis - 'People doing things.' Reflections of an OT in the field of rare diseases. - The Occupational Therapy Hub
Presentation of Variant Transthyretin Amyloidosis

First symptoms of the disease usually appear in the third decade of life. Patients usually experience severe physical limitations due to the genetic mutation - but psychological, social and occupational effects have also been described (Luigetti et al., 2020). Existing research suggests that being diagnosed affects activities of daily living (Buades-Reinés et al., 2016).

However, in addition to the clinical approach, no type of intervention has been described that focuses on the maintenance, improvement and adaptation of the daily life of patients and their carers after the diagnosis - a competence that sits within the discipline of occupational therapy.

Specifically, my PhD project aims to analyse the effectiveness of an occupational intervention in patients with Variant Transthyretin Amyloidosis. The objectives were to have concrete understanding of:

  • what the benefits of this intervention would be

  • in which parameters of the daily life of patients these benefits would be realised

  • what the magnitude of their impact would be

I wanted to illustrate the impact of this disease on the occupational dimension and

on daily life - to open up avenues for future research, to stimulate reflection on possible lines of intervention and to highlight the importance of a differentiated multidisciplinary team - complemented by professionals in the psychosocial field, such as occupational therapists.


It is the journey that is important, not the destination


The Beautiful Brain - 'People doing things.' Reflections of an OT in the field of rare diseases. - The Occupational Therapy Hub

During these four years I have worked with people in group and individual sessions, to work on daily living and understand how the body works as a whole. Studying, adapting, changing or starting new occupations have been my goals during my time specialising in rare diseases.

I discovered that the occupational therapist is the key to motivation, planning and understanding the basic and not-so-basic aspects of daily life. And that it is not about people doing things; it is about having a meaningful life, without being conditioned by a diagnosis.

I understood that occupation is not a luxury for a few; it is a right for all.

Asociación Balear de la enfermedad de Andrade (ABEA) - 'People doing things.' Reflections of an OT in the field of rare diseases. - The Occupational Therapy Hub

Asociación Balear de la enfermedad de Andrade (ABEA)

To make contact regarding this research:

Aina Gayá Barroso




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