Rare diseases can be devastating, especially if they are unexpected. It can turn a family’s life upside down and cause distress for both the affected person as well as their loved ones. While these genetic disorders can leave a family feeling hopeless or overwhelmed, there are professionals who are trained to help families prepare for and deal with these situations.
What Is Genetic Counseling?
Genetic counseling is the process of working with families to address their risk of genetic disorders and the implications of these disorders on their lives. Typically, a genetic counselor and the family will discuss testing, management, prevention, and the effects of living with disorders that they or their future children are at higher risk for. Genetic counseling can reference a variety of genetic disorders including birth defects, sickle cell disease, cancers, and fatty acid oxidation disorders (FAODs).
Fatty Acid Oxidation Disorders Genetic Counseling
Genetic counseling can be helpful for many reasons as well as for many different people. Because fatty acid oxidation disorders are genetic, genetic counseling for FAODs can be beneficial for families who are at high risk of developing these disorders.
People who should consider genetic counseling for fatty acid oxidation disorders include:
- Families with a history of fatty acid oxidation disorders
- Parents whose baby is showing signs of a fatty acid oxidation disorder from prenatal screening
- Parents with a history of miscarriages or sudden infant death syndrome
- Families with members showing mild symptoms of FAODs like CPT2 deficiency which may have gone undetected
Fatty acid oxidation disorder genetic counseling will help families not only understand the disorder better but also what its implications are for the future. These genetic disorders are life-altering so it can take time to adjust to life when you or a member of your family is affected. This is why genetic counseling for fatty acid oxidation disorders can be helpful. The genetic counselor will help families cope with this new future as well as deal with the emotional effects that accompany it. Parents can feel more prepared for the birth of their child when they know what to expect.
If you are already a parent of a child with a fatty acid oxidation disorder, we understand that even with genetic counseling you are probably still feeling overwhelmed at times. At INFORM Network, we want to help. We want to be your source of reliable information on the topic. You can even ask the FAOD experts your questions.