Why don’t I have a diagnosis for my child?

Genetic interpretation is getting better every day, but we still have a long way to go before we can identify all faulty genes. It may be that your child has a combination of faulty genes or has more than one syndrome. This makes it extremely difficult for geneticists and researchers to identify a specific faulty gene or syndrome that your child might have.

How often should I see a geneticist?

Genetics is an evolving science. Researchers are regularly making discoveries and undertaking new research. Testing gets more accurate over time. Geneticists recommend a consultation every two years.

Why do I have to repeat my story?

Although it might feel frustrating at the time, it is important that you consult with a range of specialists and seek out a variety of services and resources. Every professional and specialist has their niche area and something to offer. In the end, everyone is working in the best interests of your child.

The current disability sector in Australia is fragmented and many clinical, allied health and support services may be engaged to provide the overall care for someone with a disability. Different parties involved in your child’s care may not always communicate effectively or efficiently with other specialists or services. Hopefully, with the introduction of the National Disability Insurance Scheme, this will improve.

What can I do to help?

Spread the word and let the broader community know there are a large number of children without diagnoses.

Form close links with health and social care experts both in Australia and overseas so that they can create a more positive experience when liaising with parents and carers of undiagnosed children.

Lobby both the private and public sectors to create awareness and attract more funding for genetic research.

Support others who are in a similar situation to yourself.

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