Genetic counseling is a service that provides information and guidance to people who have, or are at risk of having, a genetic condition like Batten disease. People who have a family member affected by a genetic disease may also be at risk of having children with the same disease and may benefit from genetic counseling.

What is a genetic disease?

Certain conditions such as Batten disease are caused primarily by mutations in certain genes. Everyone inherits two sets of genes — one from each parent. Therefore, genetic defects and the risk of developing a genetic disease can be passed down from parents to their children.

What happens during genetic counseling?

It involves meeting with a trained genetic counselor to discuss the likelihood of developing a genetic condition, its nature and consequences, as well as the risk of passing the disease to future children.

More than one counseling session may be necessary to address all concerns. It’s common to have a consultation both before and after a person undergoes genetic testing. A genetic counselor is also able to give recommendations about whether someone should undergo genetic screening, as well as what types of tests should be done.

Sessions that take place after genetic results are obtained aim to address questions about the genetic condition, to discuss implications of test results, and to give advice on future plans based on the results.

A genetic counselor is also able to help patients and families cope with emotions such as anxiety, anger, and grief that may arise when faced with the prospect of a genetic disease. These counselors can refer patients and families to support groups, other health professionals, and community or state services.

Who may benefit from genetic counseling?

The following people could benefit from genetic counseling:

  • People who have a genetic disease but do not show any symptoms yet;
  • People who have relatives with a genetic condition;
  • Couples who are carriers of a genetic disease and who plan to have a child. Carriers are individuals who have one copy of a defective gene but do not show any symptoms. Parents who are both carriers of the same gene mutation have a 25 percent chance of having a child with the genetic condition. These genetic conditions are said to be inherited in an autosomal recessive manner, where children must inherit both copies of the gene mutation for the disease to develop.
  • People who have had children affected by a genetic disease;
  • People who have had a baby who died and who have had two or more miscarriages.

Genetic counseling for Batten disease

Batten disease (a group of genetic conditions also referred to as neuronal ceroid lipofusinoses, or NCLs) leads to severe neurological symptoms. It most commonly manifests during infancy and childhood (and rarely during adulthood) and can significantly shorten patients’ life expectancy and quality of life.

Genetic counseling for Batten disease may benefit parents who wish to have a child but have relatives or have had previous children with Batten disease. Adult patients who are suspected of having Batten disease may decide to consult a genetic counselor before and after undergoing genetic testing.

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Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.