What to Do Following a Diagnosis

Genetic testing focuses on individual mutations in genes, large genetic changes in chromosomes, and the levels and activity of certain proteins or enzymes. Testing can help identify the presence of a genetic disorder before or after a patient experiences symptoms. It can help provide a diagnosis, determining the chances of passing these disorders down to your children, acquiring genetic counseling, and informing treatment strategies.

Amazingly, genetic testing has been found to be able to detect heart disease, Celiac disease, Parkinson’s disease, cystic fibrosis, sickle-cell disease and trait, Wilson Disease, Tay-Sachs Disease, Stickler Syndrome, Noonan Syndrome, Ehlers-Danlos Syndrome, Alport Syndrome, bipolar disorder, age-related macular degeneration (AMD), diabetes, psoriasis. Genetic cancer testing has also been successful in identifying certain forms of cancer, including breast and ovarian cancer.

How to Manage a Positive Genetic Result

If a genetic test has revealed that you have one of the conditions listed above, you may feel confused, scared, or concerned about how it will impact your daily life. Your response to a diagnosis can significantly impact your recovery and long-term outcomes, so it's important to take steps to properly care for yourself during this time. Here are a few things you can do after a diagnosis to help pave the path to recovery: 

1. Take Time to Absorb the Diagnosis

Denial, anxiety, anger, fear, guilt, and grief are all normal reactions. Allow yourself to experience these emotions and work through them in a healthy way rather than fighting against them. 

2. Create a Strong Support System

Reach out to your family, friends, neighbors, and colleagues so they can help you work through your diagnosis. 

3. Set Boundaries

After learning about your diagnosis, others may offer advice, share stories, or provide encouragement. Setting boundaries is crucial for protecting yourself and can greatly impact your mental wellbeing. 

4. Educate Yourself

Some people want to learn as much as possible about their condition, while others can find that overwhelming. Be sure to critically evaluate anything you read, and speak with your doctor if you are unsure about where to find the right sources. 

5. Avoid “What If” Scenarios

After receiving your diagnosis, you will probably have to wait for more comprehensive information about your condition and treatment options. It can be challenging but avoid spending time imagining “what if” scenarios, as this only adds to stress.

Get Help When You Need It

Receiving a diagnosis for a genetic disorder can lead to a whirlwind of emotions. While it may initially be daunting, a diagnosis can also be empowering, allowing you to identify potential issues, take proactive steps to manage them, and learn to cope and adapt with your condition.