Lack of a diagnosis

Sometimes when there is no formal diagnosis. We struggle to find the right direction to take and which direction will best assist our child’s growth and development. Our children’s medical conditions, physical condition, cognitive processes and behaviours might not make sense. It may be difficult to connect and engage with our children.

  • A diagnosis may not be important for everyone. It may put limitations on your child/children. For others, the impact of medical implications might be important, especially if the family is thinking of having more children.
  • A diagnosis may be able to explain unanswered questions. It may be a relief to know your child’s behaviour or medical condition is not a result of your parenting skills or something you “did” while your were pregnant.
  • A diagnosis might breakdown barriers. It may be easier to apply for funding if you can tick a box about your child’s syndrome.
  • It might be easier to plan for your child’s future if you have a diagnosis for your child. You might want to know when your child’s development may start to plateau or what stage in life they might reach their full potential. Will they walk or talk? What skills might they develop? You may want to consider what medical implications a diagnosis might bring for your child and how to best to prepare for your child’s situation.
  • It can be an emotional time and a period of high anxiety when you are waiting for test results to come back. Test results may come back negative but your child could still have the syndrome they were tested for. It is only when advancements in genetic tests are made that a more accurate result may be achieved. How can you find out more about your child/children’s condition when you don’t have a name for what you are looking for?
  • If you are planning more children, getting a diagnosis can help you understand the chance of the condition recurring in a future pregnancy, and may make it possible for testing of that pregnancy for people who want this.

Below is an extract ow what some parents/carers have told us:

  • “We want diagnosis for medial implications more than anything”.
  • “I think of my other children, and wish they have healthy children without the threat of their children developing an undiagnosed genetic disorder”.
  • I get tired of the questions and attitudes of people – What do you mean she does not have a diagnosis, she must have something to explain why she is the way she is”
  • “The terms “Global Development Delay” or “Intellectual Disability” do not explain or sum up my child”.

Sometimes when there is no formal diagnosis, we struggle to find the right direction to take and which direction will best assist our child/children’s growth and development. Our childrens’ medical conditions, physical condition, cognitive processes and behaviours might not make sense. It may be difficult to connect and engage with our children.

It may be that your child is the only one in the world that possess those particular signs, symptons and characteristics. The obsecurity of a condition means it can be difficult to diagnose.

A combination of different or atypical characteristics may make the diagnosis harder to recognise. In many genetic conditions, many of the symptoms overlap with other features of other syndromes.
Different syndromes can affect children in different ways and to different degrees. This in itself can be a hindrance when trying to identify a syndrome.

Some characteristics of a syndrome may not develop until later on in life, hence the delay in confirming a diagnosis or the withdrawal of a diagnosis.

Geneticists estimate that in Australia, that approximately 60% of children they see with syndromic features do not have a diagnosis. This is only an estimate as factors such as misdiagnosis and late diagnosis can skew the data. In the UK it is estimated that 30-50% of children with learning disabilities and 50% of children in contact with genetics departments may never get a diagnosis to explain the cause of their differences.