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Made by a PURA parent in the UK. Information only, not medical advice. Read our disclaimer.
PURA organisations & specialists

Diagnosed later in life: PURA syndrome for teens and adults

A gentle UK guide for families who got a PURA syndrome diagnosis in the teenage or adult years: why it came late, what it can change now, and moving to adult services in England, Wales, Scotland and Northern Ireland.

By PURA Family Directory team · published

  • 8 min read
  • Last reviewed
  • Not medical advice

Information only, not medical advice. Every child with PURA syndrome is different. Please talk to your child's own doctors and therapists before making decisions about their care. In an emergency call 999; for urgent advice call NHS 111. Our disclaimer.

An answer that came later

If your son or daughter was diagnosed with PURA syndrome as a teenager or adult, you are not alone. PURA syndrome was only first described in medical literature in 2014 (GeneReviews), so anyone born before then could not have been tested for it at birth or in early childhood.

Many older diagnoses came through large research studies that used new genome sequencing. Two examples are the Deciphering Developmental Disorders (DDD) study, which says families may still get new diagnoses as knowledge grows, and the 100,000 Genomes Project, which is still returning results to participants. Today, genomic testing is part of routine NHS care through the NHS Genomic Medicine Service in England and the regional genetics services in Wales, Scotland and Northern Ireland.

Many families, including the parent who started this site, got their answer years later through research genetic testing. Whatever your route, the guide below is here to help with what comes next.

Relief, grief and everything in between

Families often describe mixed feelings after a late diagnosis. You may feel relief at finally having a name, sadness for the years of not knowing, frustration, or even guilt. Some people feel very little at first. There is no right way to feel, and feelings can change over time.

Your son or daughter may have their own feelings about it too, if they're able to share them. Talking to other families can help. Contact has a free helpline for families with disabled children, Unique supports families affected by rare chromosome and gene disorders, and Carers UK supports anyone caring for an adult. If you're struggling, your GP is a good place to start.

What a diagnosis can change now

A name doesn't change who your son or daughter is, but it can open doors. Things families often do include:

Asking for a review. You can ask your GP or your son or daughter's consultant whether a review would be useful now that the cause is known, or a referral to a clinical geneticist. You could take the PURA Syndrome Foundation's free Clinical Considerations for PURA handout (see our first appointments guide), which lists the checks it suggests for long-term follow-up. Your doctors will decide what's right.

Genetic counselling for the wider family. Brothers, sisters or other relatives who are planning a family may want to ask their own GP about a referral for genetic counselling, to talk through what the result means for them. The NHS explains how genetic and genomic testing works.

Updating records and plans. You can ask for the diagnosis to be added to GP and hospital records, and mention it in education plans, benefit forms, care assessments and a hospital passport. A named diagnosis can help professionals understand needs that were described before only as symptoms.

Moving from children's to adult services

Many young people with PURA move from children's to adult services between about 14 and 25. Each part of the UK has its own rules, so we've split the details by nation. Planning usually starts in the early teens, but it is never too late to ask for it.

Education: plans to 25 in England and Wales, different systems elsewhere

England

An EHCP can continue up to age 25 if the young person stays in education or training and still needs it. A young person aged 16 to 25 can request an assessment themselves. Reviews from Year 9 should focus on preparing for adulthood (see the SEND code of practice).

Wales

The additional learning needs (ALN) system covers ages 0 to 25. Learners with ALN have an Individual Development Plan (IDP), which is reviewed at least once a year. Welsh Government's guide explains your rights.

Scotland

Scotland uses additional support for learning, which is not the same as an EHCP. A child with complex needs who needs support from education and another agency may have a Co-ordinated Support Plan (CSP). From 16, a young person at school has the same rights as their parents. Enquire gives free advice.

Northern Ireland

Children with significant needs may have a statement of special educational needs. From Year 10 the annual review includes a Transition Plan, which covers education, work, health, housing and leisure. Statements generally end when a young person leaves school.

Disability benefits at 16 and beyond

Disability benefits change in the teenage years, and the rules depend on where you live.

England and Wales

Child DLA usually stops at 16. Your son or daughter will get a letter shortly after their 16th birthday inviting them to apply for Personal Independence Payment (PIP). If they can't manage their own benefits, you can apply to become their appointee.

Scotland

Social Security Scotland runs Child Disability Payment, which usually continues until 18. Adult Disability Payment (ADP) has replaced PIP for people living in Scotland. You can apply from 13 weeks before the 16th birthday up to the 18th birthday. The move is not automatic: you need to make a new application.

Northern Ireland

DLA for children continues up to 16. You will get a letter before the 16th birthday, and the young person then applies for PIP, which is run by the Department for Communities.

Adult care and complex health needs

Adult social care and NHS-funded care for complex health needs are organised differently in each nation.

England

Your council can do a needs assessment for adult social care, and a carer's assessment for you. Adults whose main need is for health care may be eligible for NHS Continuing Healthcare (CHC), which is separate from children's continuing care.

Wales

Ask your council for a care and support assessment (GOV.UK). Wales has its own Continuing NHS Healthcare framework for adults whose main need is for health care.

Scotland

Contact your council's social work services for an assessment. Scotland does not use NHS Continuing Healthcare. Instead it has Hospital Based Complex Clinical Care, which is for people whose needs can only be properly met in hospital.

Northern Ireland

Adult health and social care is joined up. Your Health and Social Care Trust carries out an assessment of need. Ask the Trust how complex health needs are assessed and funded where you live.

Decisions, capacity and the law

From 16 or 18, the law treats young people as able to make their own decisions unless it's shown they can't make a particular decision. Each nation has its own capacity law. This is general information, not legal advice, so it's worth talking to an advice charity or solicitor.

England and Wales

The Mental Capacity Act 2005 applies from 16. People must be helped to make their own decisions where possible, and any decision made for someone who lacks capacity must be in their best interests. A Lasting Power of Attorney can only be made by someone aged 18 or over who has capacity to make it. If that isn't possible, the Court of Protection can appoint a deputy.

Scotland

The Adults with Incapacity (Scotland) Act applies instead. Someone with capacity can grant a continuing (money) or welfare power of attorney, registered with the Office of the Public Guardian. If they can't, a family member can apply for a guardianship order. An application can be made 3 months before the 16th birthday, so the order is in place on the day they turn 16.

Northern Ireland

The Mental Capacity Act (NI) 2016 is being brought in in stages. An enduring power of attorney covers money and property only. It is registered with the High Court (Office of Care and Protection) if the person can no longer manage their affairs. Ask your HSC Trust or a solicitor about health and welfare decisions.

Health checks, the learning disability register and hospital stays

If your son or daughter has a learning disability, ask their GP practice to add them to the learning disability register. This can help them get reasonable adjustments, such as longer appointments, and an annual health check.

England

Anyone aged 14 or over on the GP learning disability register can have a free annual health check.

Wales

GP practices offer annual health checks to adults with a learning disability who are on the register. Ask your practice what it offers for younger teenagers.

Scotland

Health boards offer a free annual health check to anyone aged 16 or over who has, or thinks they have, a learning disability.

Northern Ireland

Adults with a learning disability can have an annual health check through their GP practice, often with a learning disability health facilitator (Southern Trust example). Ask your practice or community learning disability team.

Hospital passports and trained staff

A hospital passport is a short document about your son or daughter: how they communicate, their health needs, what upsets or calms them, and the adjustments that help. Mencap has free templates. Adding the PURA diagnosis and a copy of the Foundation's clinician handout can help staff who have never met PURA.

In England, the Health and Care Act 2022 says CQC-registered health and care providers must train staff in learning disability and autism. The Oliver McGowan Mandatory Training is the recommended training. You can ask whether staff have done it.

Finding families with older children

Most PURA families have young children, but more teenagers and adults are being diagnosed as testing spreads. The PURA Syndrome Foundation connects families around the world, and many parents of older children are happy to share what they've learned.

Joining the free PURA Patient Registry is one of the most useful things you can do. Information about teenagers and adults helps researchers understand how PURA affects people across their whole life. Unique has a family guide to PURA, and Mencap and Carers UK support adults with a learning disability and the people who care for them.

When you're ready, print our one-page moving to adult services checklist to take to reviews and assessments.

Questions families ask

Is it too late to ask for support after a diagnosis at 18 or 19?

No. Adult social care, disability benefits, health checks and family support are all open to adults. A diagnosis can be added to existing plans and assessments at any time.

Should my son or daughter be retested?

That's a question for your GP or a clinical geneticist. Many families simply ask for the diagnosis to be confirmed in their records and for a copy of the genetic report.

Can adults join the PURA registry?

The registry is for people with PURA syndrome and their families. Check the PURA Syndrome Foundation's registry page for current details on who can take part and how.

Sources

Checked 1 Nov 2026. Rules, rates and services change, so always check the latest version.

Print the checklist

Take our one-page “what to ask” list to the appointment: Moving to adult services.

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