Adrenoleukodystrophy is an inherited condition caused by a mutation in the ABCD1 gene located on the X-chromosome.
The condition can be identified either during newborn screening, or confirmed through genetic testing after diagnosis with a blood test.
Parents of newborns carrying the mutation, diagnosed patients and their family, or couples with a family history of ALD planning a pregnancy, all can benefit from genetic counseling by trained counselors. Although for each group the advantages of the counseling session will vary, the one common benefit genetic counseling offers is access to someone who can provide more information about the condition.
Genetic counselors
Genetic counselors are experienced health professionals trained in medical genetics and counseling. They translate technical medical information and review the genetic screening results with the family. They help the family understand how genetics contributes to the condition and its overall impact. They provide support and can direct the family to other community support groups to help them adjust to the diagnosis.
Genetic counseling after an ALD diagnosis
Genetic counseling involves extended discussions between the family and the counselor. Being prepared with questions, medical information about close family members, and all current test results can be beneficial.
Hospitals usually offer counseling programs and they determine the duration of each session.
One should expect a lot of information-gathering and -sharing at the counseling session. One of the goals of the session is to identify other family members who may have ALD. As an inherited condition, others in the family also may have undiagnosed ALD due to the variations in the severity of the symptoms. Genetic counselors can explain the inheritance pattern of ALD and identify family members who may be at risk of developing ALD. Informing others and early detection by testing can help start treatment early and increase the chances of managing the condition.
If the counseling session is taking place after a newborn screening, the counselor and the parents can discuss what to expect as the child grows, what to be aware of, and how to identify symptoms early on. The counselor may recommend that siblings be tested, too.
Genetic counseling before an ALD diagnosis
Genetic counseling can also happen prior to genetic testing. If the doctor suspects ALD and wants to confirm it with genetic testing, they may refer the patient to genetic counseling. In such a situation, the counselors can discuss the test and the potential diagnosis with the family and prepare them for the test results.
Genetic counseling before planning pregnancy
Genetic counseling can help couples who have had someone in the family diagnosed with ALD, or mothers who are ALD carriers. It is important to learn about the inheritance pattern of ALD while planning a pregnancy. The counselor will review the family history and explain to the couple the likelihood of it affecting their child. They also may provide information, if deemed necessary, on in vitro fertilization (IVF) with pre-implantation genetic diagnosis, in which the embryos are screened for genetic defect before being placed into the mother’s womb.
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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.