Rhythm Pharmaceuticals · 2022

Mapping a rare genetic disease

Bardet-Biedl syndrome takes years to diagnose and a lifetime to manage. We interviewed 24 families across three countries and put the whole of it on one map.

Role: Lead UX Researcher & Designer
Year: 2022
Sector: Healthcare
Read time: 5 min

The Bardet-Biedl syndrome journey map: five life phases across the top, emotional lanes for the person with BBS, their caregiver and their healthcare professionals, and four lanes covering health, healthcare, education and food

The condition

Bardet-Biedl syndrome is a ciliopathy. It is a rare genetic disorder that affects several body systems at once: vision, kidneys, cognition, hormones. It also causes hyperphagia, an insatiable hunger that is neurological rather than behavioural and cannot be reasoned away.

It is rare enough that most GPs will never see a case. Symptoms arrive one at a time and years apart, so each one gets treated as its own separate problem.

By the time a family gets a diagnosis, most have already been told they are fine. Or that they are exaggerating. Parents get told the problem is parenting.

The system wasn’t built for them. They know it. Our job was to write down what that actually costs.

Discovery

Rhythm Pharmaceuticals makes precision medicines for rare neuroendocrine diseases. They understood the clinical picture in detail. Nobody had written down the lived one.

So there was no product at the end of this. No screens, no roadmap, no feature list. One question instead: what does a life with BBS actually look like, for the person, the family and the clinician.

I would take that brief again. Research usually gets asked to arrive pre-shaped like a solution, which quietly decides the answer before the fieldwork starts.

Research

The project ran six months end to end. We interviewed 24 families representing 29 people with BBS, alongside five healthcare professionals: GPs and specialists who see this group regularly. The fieldwork covered the UK, France and Germany, with one participant from Austria.

Normal sampling logic does not survive a population this small. You cannot recruit twenty strangers for a moderated session when there are not twenty strangers to recruit.

Surveys were out too. This cohort has been surveyed to exhaustion by a system that asks a great deal of them and gives little back.

So we listened instead. Long, structured conversations about ordinary life rather than about products. What the diagnostic years had cost, financially and otherwise. What a good day looks like, and what a bad one does.

Families interviewed24Across the UK, France and Germany, plus one participant from Austria

Medical Specialists5Healthcare professionals and specialists who see this group regularly

Months6Fieldwork was carried out in three different countries renotely

One journey map

I ran the fieldwork and designed the artefact, so the person drawing the lanes had sat in the interviews. On a map this dense that matters. Every cell is a decision about what to leave out.

Everything went into one artefact. Five phases run across the top: early childhood, prominent symptoms, diagnosis, symptom management, adulthood. Everything below a phase is what that phase actually contains.

Three lanes carry emotion, one each for the person with BBS, their caregiver, and their healthcare professionals. Reading those three stacked is the part that changes minds. At diagnosis a family feels relief and dread at the same time, while the clinician sits somewhere closer to procedural calm.

Four more lanes carry the practical texture of each phase: health, healthcare, education and work, food and sport. A single column tells you what is happening medically, administratively, socially and at the dinner table, all in the same month of someone’s life.

The size is a decision rather than an accident. A condition that spans forty years and four life domains should not compress into a summary slide. Compressing it is part of what went wrong for these families in the first place.

Six areas to act

A map that only describes is half a deliverable. We marked six improvement areas directly onto the phases where they land, so each one points at a moment rather than at the condition in general.

Awareness and knowledgeHealthcare professionals rarely recognise BBS. They see the symptoms one at a time and treat them one at a time, which is why diagnosis takes years.
Information at diagnosisFamilies get handed a great deal of information at once, and almost none of it answers what to do next week. Most of it never reaches the people who need it.
Routine adjustmentsEstablishing a routine, managing hyperphagia and monitoring BMI all land at the same time. There is no template for any of it.
CoordinationCaregivers become the coordination layer between healthcare, education and social services. Most are doing it alongside a full-time job.
Education and employmentClear guidance is scarce, so families research their own options. That research falls due exactly when they have least capacity for it.
ConnectionFamilies with the same problem are rarely in the same city, let alone the same country. Changing schools and locations makes meaningful support harder to hold on to.

Where it ended

The map went to the client and our part stopped there. Delivery was theirs to carry, on their timeline, and we waited to hear whether they wanted us for that too. Discovery engagements work this way and it is worth being straight about it.

So there is no adoption figure at the end of this, and I am not going to invent one. What I can point at is what the map replaced.

Before it, BBS lived inside the business as clinical knowledge plus anecdote. Neither of those survives a meeting. Afterwards there was one reference built from 29 real lives, specific enough that anyone could stand in front of it and disagree with it in public.

Six months of fieldwork, one artefact. For a condition nobody had described end to end, that is the right ratio.