You've just received a diagnosis. Here's where to start.

There is no correct way to respond to a diagnosis like this. Some families feel relief at finally having a name for what they have been observing. Others feel grief, shock, fear, or a mix of all of these at once.

Whatever you are feeling right now is valid. This is hard. And it is also navigable with the right support around you. When you are ready, this guide will help you understand the practical steps ahead. There is no rush to get through all of it today.

If your child has been identified as having an SCN2A variant, they have a change in a gene called SCN2A that affects how their brain develops and functions. SCN2A variants can cause a range of conditions from early infantile epilepsy to autism spectrum disorder with minimal seizure activity depending on the specific nature of the variant.

If your child has a broader diagnosis of DEE (Developmental and Epileptic Encephalopathy) with a specific genetic cause, the underlying gene matters for understanding what to expect and which treatments are likely to help.

One of the most important things to ask your doctor

Ask your neurologist or geneticist whether your child's variant is a gain of function or loss of function variant. This matters significantly for treatment decisions, some anti-seizure medications that help one group may worsen outcomes in the other.

Genetic results can be complex

Genetic reports often include language like "pathogenic," "likely pathogenic," "variant of uncertain significance (VUS)," or "de novo." If you have received a genetic report that you don't fully understand, a genetic counsellor can walk you through what it means for your child and your family.

SCN2A Australia can link you with genetic counsellors and families who have navigated similar results you do not need to interpret this alone.

Managing an SCN2A-related condition or DEE typically involves a team of specialists working alongside your child and family. In the early stages, your team is likely to grow and that can feel overwhelming.

A typical care team for a child with SCN2A or DEE may include:

• Paediatric neurologist specialist in epilepsy and brain development; often the primary specialist for seizure management
• Developmental paediatrician supports overall developmental monitoring and coordinates care
• Geneticist or genetic counsellor helps interpret the diagnosis, understand inheritance, and discuss implications for the family
• Occupational therapist (OT) supports daily living skills, sensory processing, and fine motor development
• Speech pathologist supports communication, feeding, and swallowing
• Physiotherapist supports motor development, movement, and gross motor skills
• Psychologist supports mental health and wellbeing for your child and for carers

You do not need all of these from day one. Your medical team will guide referrals based on your child's specific presentation. The key is to start building relationships with the right specialists early wait times for paediatric specialists in Australia can be long.

Early intervention matters

If your child is young, early intervention services, including OT, speech, and physiotherapy,  are consistently shown to support better developmental outcomes. In Australia, access to early intervention services can be funded through the NDIS, depending on eligibility.

If your child has seizures, seizure safety is one of the most immediate priorities. Your neurologist will guide you on medication, seizure first aid, and when to call for emergency help. Some key starting points:

Seizure first aid basics

Stay calm. Time the seizure. Keep your child safe from injury. Do not put anything in their mouth. Most seizures stop on their own within a few minutes.

Know your emergency threshold

Your neurologist will tell you when to call an ambulance. This varies depending on your child's condition and seizure type make sure this advice is clear and written down.

Anti-seizure medications and SCN2A

Medication selection for SCN2A requires careful consideration of whether your child has a gain or loss of function variant. Some medications are contraindicated for certain variant types. Always make sure any treating clinician, including in an emergency setting knows your child's SCN2A variant type and any medications that should be avoided.

One of the most valuable things you can do in the early weeks after diagnosis is connect with another family who has been where you are.

SCN2A Australia facilitates peer connections linking families with others who have children with similar presentations, similar ages, or similar challenges. There is nothing quite like speaking with someone who genuinely understands.

We also host regular virtual meetups and an annual family event where families can connect in person.

The SCN2A Insights Registry is one of the most meaningful things your family can do to help advance understanding and treatment of SCN2A-related conditions.

The registry collects information from families with SCN2A variants to build a picture of the condition how it presents, how it progresses, and what helps. This data directly informs research directions and clinical trial design.

Participating in the registry does not commit you to anything else. Your information is de-identified and used for research purposes only. And by joining, you become part of a global community of families contributing to a future where better treatments are possible.

Caring for a child with a complex medical condition has significant practical and financial implications. In Australia, the main avenues for support include:

NDIS

Children with SCN2A-related conditions or DEE may be eligible for NDIS funding, which can cover therapies, equipment, support workers, and other needs. Navigating the NDIS can be complex SCN2A Australia links you to families who have been through it and resources that make the process clearer.

Carer payments and allowances

Centrelink offers a range of payments for carers, including Carer Payment and Carer Allowance. These are income-tested and based on the level of care required.

Workplace and employment support

If the diagnosis affects your ability to work, your employer may offer flexible arrangements, and there are government supports available for carers.

This bears saying clearly: caring for a child with a complex condition is one of the hardest things a person can do, and your wellbeing matters, not as an afterthought, but as a genuine priority.

Many families find that the initial period after diagnosis is intense absorbed by appointments, decisions, and adjusting to a new reality. In time, many also find a rhythm, a community, and a resilience they did not know they had.

Give yourself permission to ask for help. Accept support when it is offered. And when you are ready, SCN2A Australia can connect you with carer support resources, peer connections, and a community who understands.