Importance of Genetic Counseling in Adrenoleukodystrophy

Importance of Genetic Counseling in Adrenoleukodystrophy

Adrenoleukodystrophy (ALD) is an X-linked genetic disease caused by mutations in the ABCD1 gene, resulting in the accumulation of saturated very long-chain fatty acids (VLCFAs) inside cells. These VLCFAs can affect the brain and the adrenal glands.

Genetic counseling is of importance to anyone with — or thinks they might have — a family history of ALD, whether or not they are either planning to have children.

When is genetic counseling recommended?

You may be advised to undergo one or more genetic counseling sessions with a trained counselor for reasons that can include:

  • Your doctor requests a genetic test to confirm ALD in you or in your newborn.
  • Your family has a known history of ALD.
  • Your doctor thinks a future child may be at risk of inheriting ALD.

Who are genetic counselors?

Genetic counselors are professionals trained in identifying the nature of genetic diseases, and counseling those who have or are at risk of passing the disease to their children. Genetic counselors work with a family’s doctor and help to interpret the results of genetic tests and what they mean for that family. They also provide emotional and other support to help a person cope with the disease.

What sort of questions can be expected?

Questions during a typical genetic counseling session involve your and your partner’s medical family history, your or another’s symptoms, and understanding the results of your genetic tests. The counselor may also ask about recent activities engaged in prior to the onset of symptoms.

Is genetic counseling important?

Yes. Genetic counseling can help you learn about the inheritance pattern of ALD, which typically is not part of regular clinical testing. If you have been diagnosed with ALD, attending a genetic counseling session can help you understand how to best cope with the disease, the probability of your children inheriting the disease, and its implications for newborns. Such sessions can also offer moral support.

If you have been diagnosed with ALD but are planning to have children, the genetic counselor can recommend such options as in vitro fertilization (IVF) with preimplantation genetic diagnosis. This helps screen the embryos for ALD before implanting them in the mother’s uterus.


Last updated: Sept. 30, 2019


Adrenoleukodystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.

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