Impact of a diagnosis
Receiving the news that your child has a genetic condition can be overwhelming. Different people respond to a genetic diagnosis in their own unique way. It is not uncommon for people within the same family to feel differently and have different responses.
Some emotions that people experience are:
- Relief
- Sadness
- Grief
- Anger
- Frustration
- Uncertainty
- Confusion
- Happiness
- Closure
What next?
As most genetic conditions are rare, doctors often have only limited information about them and information on the internet may be confusing and full of jargon.
This means that even though the journey to find a diagnosis has come to an end, there may still be many uncertainties for your family, such as what will happen in the future.
Managing uncertainty
Dealing with uncertainty is difficult, but:
- A genetic diagnosis provides some information about your child’s future, however your child will carve their own path.
- Knowledge grows over time. As more people are diagnosed and more research is done, your doctor may be able to tell you more about the diagnosis and its likely impact on your child.
- Your doctors may not have treated a child with the exact same genetic diagnosis, but the way they look after your child will be similar to the way they care for other children with genetic epilepsies.
How may a genetic diagnosis affect the management (medical care) of a child?
- Your child’s medical team will no longer need to consider other possible causes of your child’s health condition.
- Depending on the diagnosis, your child’s interventions, such as physiotherapy, speech therapy and occupational therapy, should still continue.
- Other therapies or screening/tests may be suggested, such as heart/eye checks.
- Although there is currently no cure for genetic epilepsy, this does not mean there will never be a treatment or cure. Research into how best to treat each genetic epilepsy (precision medicine) is making great gains.
What does a genetic diagnosis mean for family planning?
- A genetic diagnosis will help explain how the condition happened, who else in the family might be affected, and the chance of other children being born with the condition.
- You and your family members will have choices about tests and checks around future pregnancies.
Reliable sources of information and support
Healthcare professionals
- Your medical team
- Epilepsy nurses
- Counsellors
- Social workers
The CoGENES group have co-designed with families a series of videos and a downloadable resource called ‘Finding a Way’ which is a positive psychology resource for families with a genetic epilepsy diagnosis.
Many links are available on our links page here which can provide reliable sources of information or links to specific support groups.