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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 been diagnosed with Ataxia by your neurologist on clinical examination. Now you are considering genetic testing. Genetic testing might be right for you if:

  • Your neurologist recommends genetic testing to understand your condition better, so they can treat you in a more personalized manner. Sometimes some medications work well for certain genetic forms of Ataxia. If your neurologist does not know your genetic status, you would not be offered these therapies now and in the future as more come out.
  • You are curious. Perhaps you are wondering “why me”? Having a genetic diagnosis will help you understand that you were born with a genetic Ataxia condition and there is nothing you could have done to prevent it.
  • You are worried about disease progression. By studying others with the same gene mutation, your providers may be able to determine what you can expect in the future. For example, if the Ataxia gets worse or is stable throughout a person’s life, what other symptoms are possible, etc.
  • You would like to tell children and other family members if they are at risk for Ataxia. Sometimes Ataxia is inherited and sometimes it isn’t. By doing comprehensive genetic testing you will rule out the known Ataxia genes. In the event you receive a negative genetic test, you can feel relieved that you did not pass on a known genetic mutation to your children. However, it is important to keep in mind that genetics is a new field of medicine and new Ataxia genes may be discovered in the future that weren’t analyzed on your test. For this reason, it is important to keep a copy of your genetics report.
  • You are interested in research/clinical trials. Some genetic forms of Ataxia have research studies or clinical trials associated. If not now, some may become available in the future as research advances. You and your providers would need to know your genetic status to be eligible/offered opportunities.
  • You would benefit from the support of peers. Some people benefit from talking to others with the same genetic Ataxia condition. It may be helpful to speak with people who truly understand what living with a genetic Ataxia is like on a day-to-day basis.

Scenario 2: A Close Relative has Received an Ataxia Diagnosis

Someone in your family has a known Ataxia gene mutation. A close relative includes biological siblings and biological parents. Genetic testing might be right for you if:

  • You would like to know if you are at risk of developing Ataxia in your lifetime. Depending on your age, predictive genetic testing may be available to you.
  • You are considering starting a family and would make reproductive decisions based on genetic results. If there is a known mutation in the family that you are at risk of inheriting, finding out your genetic status will allow you to make more informed reproductive choices like IVF, egg donation, adoption, prenatal testing, etc.

A conversation with a certified genetic counselor will help you make the difficult decision to pursue genetic testing or not. You can find a genetic counselor here.

 

Written by Michelle Rochman, MS CGC

Edited by Celeste Suart, PhD

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