Wilson’s disease is a genetic disorder characterized by a buildup of copper in either the liver, the brain, or both. Individuals with this condition are unable to excrete excess copper, a vital process in healthy individuals. When too much copper accumulates in either of these organs, it causes copper poisoning, which can be fatal if left untreated.
There are multiple ways a genetic condition can be inherited. One mechanism is called autosomal recessive inheritance. Autosomal recessive disorders are genetic conditions that occur because of a genetic mutation located on a non-sex chromosome.
Wilson’s disease is described as an autosomal recessive disorder. If you have a child with this condition, it means that he or she inherited copies of the faulty gene from both parents. In this case, each parent is considered a genetic carrier of the disorder.
What is a Genetic Carrier?
Individuals who carry a mutation for an autosomal recessive disorder often do not show any signs or symptoms of the genetic condition. This is because there is a second, normal gene that can compensate for the error. However, there is a 50 percent chance that a genetic carrier will pass the mutated gene on to his or her children.
How Can I know if I’m a Genetic Carrier for Wilson’s Disease?
Scientists can analyze DNA in our bloodstream to identify genetic and chromosomal abnormalities. Genetic carrier screening uses a blood draw to look for specific mutations associated with autosomal recessive genetic disorders. This noninvasive testing technology can tell your doctor whether you are a genetic carrier for Wilson’s disease.
If you test positive as a genetic carrier, your doctor will want to test your partner. If both you and your partner are carriers of Wilson’s disease, there is a 25% chance that your child will be born with the disorder.
Who is at Risk of Having a Child With Wilson’s Disease?
Individuals who are at risk of having a child with Wilson’s disease are those who:
- Have a child with Wilson’s disease
- Have a family history of Wilson’s disease
- Receive a positive genetic carrier screening result for Wilson’s disease
Is Genetic Carrier Testing Right For Me?
In order to determine the best treatment outcomes and to halt the progression of the condition, it is important to diagnose Wilson’s disease early. Healthcare providers can better understand your risk of having a child with Wilson’s disease by knowing if you and your partner carry a genetic mutation associated with the condition.
Work With a Genetic Counselor to Learn More About Genetic Carrier Testing
Genetic counselors are healthcare professionals trained in medical genetics and counseling who help expecting parents understand risks associated with genetic and chromosomal disorders. If you’re interested in learning more about Wilson’s disease and/or genetic carrier screening, contact a genetic counselor.