Duchenne Into Adulthood: Transition and Adult Care in Australia

Duchenne into adulthood: the generation the system did not plan for

When Monash University summarised its own researchers’ findings on Duchenne muscular dystrophy in Australia, it used a headline that is unusually direct for a university media release: science is rewriting the Duchenne lifespan, and care must catch up.

The study behind it, published in The Lancet Regional Health – Western Pacific in 2025, followed 356 Australian males with Duchenne born between 1958 and 2014. For those born before 1970 the median was 18.2 years; for the 1990s birth cohort it was 24.0 years. Corticosteroid use, ACE inhibitor use, echocardiography and respiratory support all increased over the period, and the people who received them lived longer.

The authors’ conclusion was not about drugs. It was that as more people with Duchenne reach adulthood, Australia needs stronger clinical services and surveillance — particularly transitional and adult care.

This is the defining problem in Australian Duchenne care, and it is a problem created by success. For most of the twentieth century, Duchenne was a paediatric condition because the people who had it did not become adults. So Australia built excellent paediatric neuromuscular services: multidisciplinary clinics, physiotherapy, orthopaedics, respiratory and cardiac teams, family support, school liaison, all under one roof, all coordinated.

Then steroids, ventilation and cardiac protection moved the survival curve, and a generation of men arrived in adulthood — with jobs, degrees, relationships, tenancies and plans — and found that the structure stopped at 18.

This guide is about that gap: what changes at the transition, what to arrange and when, what adult life with Duchenne actually involves, and the specific things that go wrong. It is written by an adult disability provider, which makes it partial, and it is the guide on this site most worth reading if the person is over fifteen.

What actually changes at 18

Families describe the transition as falling off a cliff, and the specifics are worth setting out because each one can be prepared for.

One clinic becomes five. The paediatric neuromuscular clinic held neurology, respiratory, cardiology, physiotherapy, occupational therapy, orthopaedics, dietetics and social work in one place on one day. In adult services those are separate departments, in separate buildings, with separate waiting lists and separate referral processes, and nobody is coordinating between them.

Nobody owns the whole picture. This is the central loss. Paediatric care had a clinic coordinator or a consultant who knew the person and tracked the schedule. Adult care has specialists managing their own organ.

The surveillance schedule stops being delivered automatically. In paediatrics, the annual echo and the six-monthly spirometry happened because the clinic booked them. In adult services they happen if somebody requests them. The thresholds from the care considerations do not change at 18 — the delivery mechanism does.

Expertise thins. Adult neurologists and respiratory physicians who have managed many adults with Duchenne exist, and they are concentrated in a small number of centres. A general adult respiratory clinic may have seen very few.

School ends, and with it six hours a day of structure, supervision, company and a funded support framework. This is routinely underestimated and it is one of the commonest causes of deterioration in the year after leaving.

Consent becomes the person’s own, which is correct and which changes how families participate, sometimes abruptly.

Funding changes character. Paediatric NDIS plans are frequently built around therapy, school support and development. Adult plans need to be built around personal care, community participation, employment, equipment and — eventually — housing and overnight support. These are different plans, not continuations.

And the paediatric hospital’s informal goodwill disappears. The physio who fitted you in, the registrar who answered emails, the clinic nurse who chased the orthotist. None of that transfers.

When to start, and what to ask for

The honest answer on timing is about fifteen, not seventeen, and certainly not eighteen.

Ask for a written transition plan. Most Australian states have a formal transition process for young people with complex conditions attached to their children’s hospitals. It has to be asked for, and it should name the receiving adult clinicians individually rather than naming departments.

Get the adult referrals made while the paediatric service is still open. Specifically:

Adult neurology, ideally at a centre that sees adults with neuromuscular conditions.

Adult respiratory, with a home ventilation service attached. This is the most important single referral, because respiratory management is what keeps people alive and because ventilation needs ongoing specialist adjustment.

Adult cardiology, with the baseline imaging and medication regimen handed over explicitly.

A GP who will hold the whole picture. The most valuable relationship in adult Duchenne care and the one most often not arranged. Find a GP willing to take it on, book a long appointment, and give them the summary document described below.

Orthopaedics, if there is a spinal fusion or ongoing contracture management.

Adult physiotherapy and occupational therapy, which in adult services are usually funded through the NDIS rather than the hospital — a change that surprises people.

And a joint appointment, if you can get one. A single appointment with the paediatric and adult teams in the same room transfers more useful information than any letter.

Then make the summary document. Two pages: diagnosis and the specific genetic variant; steroid history including current dose and the fact of adrenal suppression; cardiac history, current medication, last imaging and ejection fraction; respiratory history, last FVC, ventilation settings and equipment; surgical history; current function and transfers; equipment in use; allergies and anaesthetic considerations; and who to ring. Send it ahead of every new appointment. This single document prevents more harm than anything else on the list.

The adult medical issues

Respiratory management is the thing. By adulthood most people with Duchenne are using nocturnal non-invasive ventilation, and many extend it into the day. The 2018 care considerations state that most or all core respiratory therapies should be in use by age 18 to 21. What matters in adult life:

Ventilation settings reviewed by somebody who knows the condition. Not adjusted by a general sleep service unfamiliar with neuromuscular disease.

Cough assist available and used, particularly during chest infections. A mechanical cough assist device during an infection is the difference between a bad week and an intensive care admission.

A chest infection plan. Written, held by the person, the family and any support provider, specifying when to start antibiotics, when to increase ventilation, when to use cough assist more frequently, and when to present to hospital. Chest infections are the commonest acute crisis in adult Duchenne and they escalate quickly in somebody who cannot clear secretions.

And the oxygen warning, which belongs in every adult Duchenne file. Respiratory failure here is a problem of ventilation rather than oxygenation — carbon dioxide is not being cleared. Giving oxygen by itself can blunt the drive to breathe and push the carbon dioxide higher still. Somebody presenting to an unfamiliar emergency department needs this stated, and a card or letter in the wallet is a reasonable precaution. See breathing and muscular dystrophy.

Cardiac management continues and intensifies. Cardiomyopathy is a leading cause of death in Duchenne, and adult cardiac care means ongoing surveillance, medication optimisation, and in some cases heart failure management. Make sure the handover includes the current regimen and the most recent imaging, and that annual review actually happens. See the heart and muscular dystrophy.

Steroids and adrenal suppression. An adult on long-term corticosteroids needs stress dosing during illness, injury or surgery, and an alert card or bracelet. Emergency departments do not always know this. It should be on the summary document in bold.

Bone health. Fracture risk remains elevated and vertebral fractures can be silent. Surveillance should continue into adult life and frequently does not.

Nutrition and swallowing. Weight management matters mechanically. Swallowing difficulty appears in adulthood for some people and needs speech pathology assessment rather than improvisation.

Pain. Under-recognised and under-treated in adult Duchenne — from contractures, from sitting in one position, from scoliosis, from overuse of remaining muscle. It is a legitimate reason to ask for a pain specialist, and a legitimate reason to re-examine seating.

And anaesthetic risk. Any surgery, including dental work under general anaesthetic, requires an anaesthetist who knows the cardiac and respiratory status. Certain agents carry specific risks in muscular dystrophy. Never let a procedure proceed without the neuromuscular team being informed.

Adult life, which is the point of all of it

The medical list above is necessary and it is not what adult life is about, and a guide that stops there has missed the subject.

Work and study. Men with Duchenne complete degrees, work, run businesses and build careers. What that needs: accessible transport, a workstation set up by an occupational therapist, personal care available during the day, assistive technology, flexibility around fatigue and appointments, and an employer who makes reasonable adjustments. JobAccess and the Employment Assistance Fund can pay for workplace modifications and assistive technology. The NDIS can fund support in a workplace in some circumstances. The main barrier reported is not capability; it is the practical scaffolding, and the scaffolding is fundable.

Moving out. The default assumption is often that an adult with Duchenne lives with their parents indefinitely, and a great many want to live independently. That is achievable with an NDIS plan built for it, and the structure that usually fits is Individualised Living Options, which funds a designed arrangement rather than a place in a group house. See supported independent living with muscular dystrophy.

Relationships, sex and having children. Covered almost nowhere, asked about constantly. Men with Duchenne have relationships and sexual lives, and the practical questions — positioning, fatigue, privacy when you have paid support workers, fertility — deserve real answers from a clinician rather than embarrassed silence. Ask the neuromuscular clinic, or ask for a referral to a sexual health service with disability experience. Privacy from support workers is a legitimate thing to specify in a support plan.

Driving. Modified vehicles with hand or joystick controls are a genuine option for some people, and an occupational therapy driving assessment is the route.

Community, friendship and getting out. This is what support hours are for as much as personal care, and plans that fund only personal care produce a clean, well-fed person with no life.

And decision-making. An adult with Duchenne makes their own decisions. Cognitive ability is unaffected in most people with the condition, and where there are learning differences they rarely remove capacity. The commonest complaint from adults with Duchenne about the health system is being spoken about rather than to, with parents addressed over their head in appointments they are attending as adults.

Planning ahead, honestly

This is worth including because adults with Duchenne consistently say they want the information and are rarely offered it.

Advance care planning. What treatment the person wants and does not want: ventilation and how far it extends, tracheostomy ventilation, intensive care admission, resuscitation, and antibiotics for recurrent chest infections. Tracheostomy ventilation in particular is a decision to make in advance, because an emergency intubation during a respiratory crisis can become irreversible — and a decision made in advance is a decision made by the person rather than by a system at 3am.

An enduring power of attorney and an enduring guardianship, naming who the person wants making decisions if they cannot.

Superannuation and insurance. Total and permanent disablement cover and terminal illness provisions exist and are frequently unclaimed. Check every fund.

Palliative care, early and for symptom management — breathlessness, pain, secretions, anxiety, sleep. It runs alongside active treatment and is not a transition to giving up. Most people are referred far too late.

And distribute the directive. With the appointed decision-maker, the GP, the neuromuscular clinic, the local hospital, the support provider, and somewhere the ambulance service will find it.

What good adult care looks like

A short list, because it is useful to know what to aim at.

One coordinating relationship — a GP, a support coordinator, or ideally both.

An adult neuromuscular or home ventilation service that knows the condition.

The surveillance schedule delivered, with somebody tracking what is due.

A chest infection plan and an anaesthetic alert, written and distributed.

Equipment specified ahead of need, with seating reviewed whenever anything changes.

A support team with continuity, trained in the specific supports this person uses.

Hours funded for a life, not only for personal care.

And the person running their own plan, with as much of the administration taken off them as they want and no more.

School ending, and the gap nobody fills

The single most under-anticipated event in the transition, and it is not medical.

School was not only education. It was six hours a day, five days a week, of structure, supervision, company, a reason to get up, somebody noticing if you were unwell, and a funded support framework that someone else organised. It ends on a known date, and for a great many young men with Duchenne nothing replaces it.

What happens in the year afterwards is well described by families and rarely written down: days that start later and later, a social circle that thins because everybody else went to work or university, deconditioning, weight gain, low mood, and a slide that gets attributed to the condition progressing when a fair part of it is twelve months of nothing to do.

What to put in place before the last term, not after:

Something that happens on a timetable. Study, work, volunteering, a course, a regular activity. The specific thing matters less than the fact that it is scheduled and that somebody expects you.

Study, properly supported. Universities and TAFEs have disability services, and accessible transport, personal care during the day, a workstation set up by an occupational therapist and flexibility around fatigue and appointments make it workable. The barrier reported is almost never academic.

Employment support in the plan. JobAccess and the Employment Assistance Fund pay for workplace modifications and assistive technology, and the NDIS can fund support in some work contexts.

Community participation hours and transport, funded explicitly. A plan that funds only personal care produces somebody clean, fed and sitting at home.

The friendships, deliberately. School friendships maintained themselves through proximity; adult ones need arranging, and that is a legitimate use of support hours.

And a conversation about what he actually wants, had with him rather than about him. The default plan after school is frequently assembled by parents and services with the best intentions and without asking.