Resources for adults living with SAVI

Are you an adult living with SAVI or another rare genetic disease?

Much of what is written about SAVI is addressed to parents, because most people are diagnosed as children. These pages are for you.

Living with SAVI as an adult

Dealing with doctors and medical teams

What to expect from treatment, how to get the most from an appointment, and the questions worth asking a clinician who may never have met SAVI before.

Managing care day to day

Practical advice on medication routines, monitoring, pacing and fatigue — and the support available when you are managing a lifelong condition alongside work and family.

Managing care away from home

Managing treatment at work, when travelling and on holiday — what to carry, what to tell people, and how to plan for a flare.

Living with a rare genetic disorder

Where to start with SAVI or an RGD?

The roadmap below sets out what the years after a diagnosis often look like.

After that, the articles and resources on this site go into more detail.

Would it help to be in touch with other adults living with a rare disease?

And when you are ready — would you be willing to share your own experience with someone who has just been diagnosed?

A potential roadmap

What the road ahead might look like

Early phase: understanding and diagnosis

Many adults reach a SAVI diagnosis after years of being investigated for something else. This phase is mostly about gathering information and making sense of what is happening.

Appointments, tests, medications and unfamiliar medical language
Meeting specialists — often rheumatology, immunology, dermatology and respiratory — and assembling a care team
Adjusting to uncertainty, and to information that changes as you go

It is common for this stage to feel overwhelming. You do not need to have it all worked out at once.

Establishing care and routines

Over time most people find a workable rhythm.

Building routines around medication and monitoring
Coordinating appointments, and keeping your specialists talking to each other
Adjusting work, study and daily life around energy and treatment

Routines shift. Flexibility is part of the process, not a sign that something has gone wrong.

Building a support system

Care is easier to sustain when there are people around it.

Working in partnership with your healthcare team rather than being managed by it
Deciding what to tell an employer, and what adjustments at work would help
Finding practical and emotional support — a partner, family, peers, community, professionals

Support usually grows gradually, and what you need from it will change.

Living and adapting over time

Life carries on alongside the condition.

Monitoring health and revisiting the care plan as things change
Decisions about work, relationships, travel, and whether to have children
Making room for a life that is not organised around illness

You are more than your diagnosis. An adult life can hold treatment and everything else at the same time.

Ongoing uncertainty and change

SAVI is variable, and plans need revisiting.

Periods of stability, and periods of more intensive care
Decisions reopened as new information and new treatments emerge
Asking questions, and seeking a second opinion, is reasonable — it is not being difficult

There is no single right way through this. You are entitled to be an equal partner in your own care.

Moving from children’s to adult services

If you were diagnosed as a child, the move into adult care can feel abrupt. You may go from a team who has known you for years to clinicians meeting SAVI for the first time.

Ask for a written summary of your history to take with you
Ask who is coordinating your care now, and how to reach them
Expect to explain SAVI more often than you did before — it is rare, and most clinicians will not have seen it
It is reasonable to ask your paediatric team to brief the adult team directly

You are allowed to ask for continuity. It is not a favour.