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How can genetic testing help me in managing my Ataxia condition?

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.   

Ataxia-Type Specific Treatment Options 

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.    

Lifestyle Choices and Modifications 

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.   

Family Planning 

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.  

Read Our Other Genetic Testing Articles

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