Why teachers having a greater awareness of rare diseases could help faster diagnosis

At Rare4Schools, we work closely with schools, families and professionals who are navigating the complex reality of rare diseases in education. One message comes up again and again: teachers are often the first professionals to notice that something isn’t quite right.

Long before a child reaches a specialist clinic, it is usually a teacher who observes differences in communication, learning, behaviour or development over time. That places educators in a uniquely powerful position not to diagnose, but to notice, question and advocate. When teachers have a greater awareness of rare diseases, this can make a profound difference to how quickly a child receives the right diagnosis and support.

Diagnostic overshadowing: when rare diseases are missed

Awareness of autism has improved significantly in recent years, which is both necessary and positive. However, through our work at Rare4Schools, we repeatedly see the unintended consequence of this progress: rare diseases being mistaken for autism, or overlooked once an autism label is applied.

This is known as diagnostic overshadowing. Many rare genetic and neurological conditions share characteristics with autism, including:

delayed or atypical communication
repetitive or restrictive behaviours
sensory sensitivities
differences in social interaction

When these shared traits are viewed in isolation, children may receive an initial autism diagnosis while an underlying rare condition remains undetected, sometimes for years.

Rare conditions commonly mistaken for, or co-occurring with, autism

We regularly highlight in our Rare4Schools blogs that a number of rare diseases either mimic autism or co-occur with it. These include:

Rett Syndrome – Often affecting girls who appear to develop typically before experiencing developmental regression, including loss of speech and purposeful hand use. Repetitive hand movements are frequently misinterpreted as autistic behaviours.

Fragile X Syndrome – A common inherited cause of intellectual disability. Features such as language delay, social anxiety and hand-flapping often lead to an autism diagnosis before the genetic cause is identified.

Angelman Syndrome – Characterised by severe speech impairment, balance difficulties and a frequently happy demeanour that can mask significant developmental challenges.

Landau-Kleffner Syndrome (LKS) – An acquired epileptic condition where children lose language skills. Reduced response to speech and social withdrawal often result in misdiagnosis as autism.

Williams Syndrome – Although individuals are often highly social, developmental delays, anxiety and learning difficulties can still lead to confusion with autism.

Cornelia de Lange Syndrome (CdLS) – Associated with growth delay, intellectual disability and behaviours such as sensory hyperactivity, repetitive behaviours and self-injury.

Prader-Willi Syndrome (PWS) – Early hypotonia and developmental delay followed by compulsive and rigid behaviours that can resemble autistic traits.

Tuberous Sclerosis Complex (TSC) – A genetic condition involving seizures and brain differences, with a high proportion of children also meeting diagnostic criteria for autism.

ADNP Syndrome (Helsmoortel–Van Der Aa Syndrome) – Causing global developmental delay, severe speech impairment and autism-like behaviours.

Crucially, some children are both autistic and living with a rare disease. Our message is never about removing an autism diagnosis, but about ensuring the full picture is seen.

Why teachers are central to faster diagnosis

At Rare4Schools, we emphasise that teachers are expert observers of children over time. In contrast to short medical appointments, educators notice patterns such as:

developmental regression rather than delay
sudden loss of language or skills
behaviours that change significantly over time
physical, medical or neurological features alongside learning needs
seizures, extreme fatigue or unexplained health issues

When teachers are aware that rare diseases exist and that they can look like autism they are more likely to:

raise informed concerns
share detailed observations with families and SENCOs
support appropriate referrals to health professionals
contribute meaningful evidence to diagnostic assessments
This awareness can significantly shorten the diagnostic journey.

Why earlier diagnosis matters

Through our work with families, we see first-hand the impact of delayed diagnosis:

years of uncertainty and frustration
inappropriate or ineffective interventions
missed medical monitoring
increased emotional and financial strain
Earlier and accurate diagnosis can unlock:
targeted therapies and interventions
appropriate medical surveillance
more tailored educational support
access to specialist communities and resources

Teachers do not need to become medical experts. What we advocate for at Rare4Schools is confidence to ask the right questions, such as:

Has there been regression?
Are there medical or physical features alongside learning needs?
Does this child’s profile fully fit autism, or could something else be going on?

Building rare disease awareness in schools

Rare4Schools exists because rare diseases are often missing from SEND conversations. Collectively, rare diseases affect millions of people, yet they are frequently misunderstood or overlooked in education.

We believe that:

even small amounts of training can have a big impact
rare disease awareness should be part of SEND CPD
collaboration between schools, families and health professionals is essential
no child should be defined by a label without being fully understood

A powerful role – without diagnosing

Teachers are not diagnosticians, and we do not expect them to be. But they are powerful advocates.

By increasing awareness of rare diseases that overlap with autism, teachers can help reduce diagnostic delay, ensure children are seen as individuals, and support families in reaching answers sooner.

At Rare4Schools, we know that awareness doesn’t just change understanding it changes lives.

Beyond Autism: How rare diseases are misdiagnosed and diagnoses delayed in education