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As the adage goes, knowledge is power. Knowledge gained through genetic testing can be difficult to process. Many people can be hesitant to have genetic testing done. They may not be sure how they will process this knowledge.
At the same time, genetic testing knowledge can be empowering. Genetic testing gives you key information to make important decisions about your health and life. Genetic testing helps you take control of your healthcare journey through knowledge. In this article, we will go over three ways genetic testing knowledge can help you manage your Ataxia.
We are entering an age where treatments are available for specific types of Ataxia. These treatments target the underlying causes of certain forms of Ataxia. This is different from symptomatic treatment, which helps ease the burdens of symptoms shared across Ataxia types. To access Ataxia-type specific options, you need to have a genetic diagnosis.
One example is Skyclarys™ (omaveloxolone), which had only been approved for the treatment of Friedrich Ataxia. More Ataxia-type specific treatment options are currently in development. Getting genetic testing done will help you be prepared for the treatments of tomorrow.
When someone receives an ataxia diagnosis, their physician often recommends that they make certain lifestyle changes. Preventative lifestyle changes like regular exercise, a balanced diet, and getting plenty of sleep can help all people with Ataxia.
However, there are certain lifestyle changes that are only helpful to certain types of ataxia. For example, avoiding caffeine and intense exercise is recommended for people with some types of Episodic Ataxia. Another example is how low-cholesterol, high-protein diets can help some people with Ataxia with Oculomotor Apraxia manage their symptoms. Physicians are not able to provide these customized recommendations without genetic testing.
Getting a genetic diagnosis can also help someone make long-term lifestyle decisions. This could include decisions around career goals, living location, and financial planning. For instance, someone with a genetic diagnosis of ataxia may choose a career path that will allow them to work from home. Additionally, someone with a genetic diagnosis can make financial plans early in life to support their future medical care needs.
Genetic testing can inform people of the risk they have of passing on ataxia to their children. Different kinds of ataxia have different inheritance patterns, the way a condition is passed down through families. It can get quite complicated. Speaking with a genetic counselor can help people understand the risk of passing on their specific Ataxia type.
Some couples may be interested in Preimplantation Genetic Testing (sometimes called Preimplantation Genetic Diagnosis), where embryos produced through in vitro fertilization are screened for specific genetic disorders. Preimplantation Genetic Testing can prevent Ataxia genes from being passed on to the next generation.
Will My Genetic Test Results Have Implications for Family Members? Yes, especially if the results show that you have a genetic diagnosis. Your results might reveal that your parents, siblings, and children have a risk for the same condition. Other relatives could have a risk as well. Genetic conditions are Read More…
Why Is Genetic Testing Important for Ataxia Research? Genetic testing plays a pivotal role in Ataxia research. This is due to the ability of genetic testing to pinpoint specific genetic mutations associated with different forms of the condition. By identifying these genetic variations, researchers can begin to research the underlying Read More…
Who Should Get Genetic Counseling and Testing for Ataxia? There are two scenarios where people should consider getting Ataxia genetic testing. This includes if you have been diagnosed with Ataxia or if a close relative has been diagnosed with Ataxia. Scenario 1: You Have Received an Ataxia Diagnosis You have Read More…
What Types of Ataxia Can Be Identified Through Genetic Testing? Genetic testing can identify the specific type of hereditary Ataxia you have, as Ataxia can be a symptom of various genetic conditions. Based on your clinical examination, your genetic counselor will determine the type of genetic test that is most Read More…
What Should I Consider Before Getting Genetic Testing? There are many things to consider before having genetic testing done. Here are a few common questions to ask yourself, if you are considering genetic testing for Ataxia. Am I the best person to be tested first in my family? We always Read More…
What is the Typical Process of Getting Pre-Test Genetic Counseling? You may be wondering what to expect once you have scheduled your genetic counseling appointment. The below process outlines a typical genetic counseling session: Plan: Your genetic counselor will first review the plan for the visit. This ensures the patient Read More…
What is the Typical Process of Getting Post-Test Genetic Counseling? When your results are back, your genetic counselor will contact you to review them over the phone, via telemedicine, or in-person. You are encouraged to ask clarifying questions to make sure you understand your results fully. Your genetic counselor will Read More…
What Are the Most Common Ways to Give a DNA Sample? Since our DNA is in every single cell of our body, there are many ways to provide a DNA sample for genetic testing. The genetic test most appropriate for you will have requirements on what types of samples are Read More…
What Are the Benefits and Limitations of Ataxia Genetic Testing? Benefits Genetic testing offers a range of valuable benefits to individuals and society. First of all, genetic tests can tell you if you are more likely to get certain diseases and conditions, which can help doctors catch them early and Read More…
How Should I Prepare Myself Emotionally for the Potential Results of Genetic Testing? It’s difficult to predict how you’ll react when receiving your genetic results. For some, a positive test brings relief after years of searching for answers, marking the end of a diagnostic odyssey. This newfound knowledge empowers them Read More…
How Long Does it Take to Get the Results from Genetic Testing? The length of time you are going to wait for your genetics results depends on multiple factors: Type of testing ordered: There are various technologies used for genetic testing, some of which require more time to complete than Read More…
How Do I Tell My Loved Ones About My Genetic Testing Results? The decision to share, or not share, your genetic test results with loved ones is your personal choice. When, with whom, and how to share your results is completely up to you. It is normal to feel worried. Read More…
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