Adrenoleukodystrophy

Who you inform about your child's diagnosis is completely up to you. At minimum, your child's healthcare team needs to know about their diagnosis. In addition, many families benefit from informing and educating family members as well as it helps build up their support system.

Published healthcare guidelines for adrenoleukodystrophy can be found at http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-51. These guidelines were published in August 2012 and serve as a comprehensive guide to the clinical presentation and management of adrenoleukodystrophy.

Resources to teach others more about adrenoleukodystrophy include:

• Genetics Home Reference: https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy
• The Stop ALD Foundation: http://www.stopald.org/what-is-ald/
• Kennedy Krieger Institute: https://www.kennedykrieger.org/patient-care/diagnoses-disorders/leukodystrophy/adrenoleukodystrophy-ald
• ALD Database: http://www.x-ald.nl/

Carriers of adrenoleukodystrophy can have neurological symptoms. Approximately 20% of carriers have symptoms that resemble AMN (adrenomyeloneuropathy). Carriers who show symptoms usually start to show symptoms in the 30s or 40s. Additionally, their symptoms will be less severe than males who are affected with adrenoleukodystrophy.

Hematopoietic stem cell transplantation has not been proven to be useful in children with advanced stage adrenoleukodystrophy. If your child is in the advanced stages of adrenoleukodystrophy, the benefits of the procedure do not outweigh the risks. Your child would not be a candidate because the hematopoietic stem cell transplantation cannot reverse damage to the neurological system. Children who are candidates for this procedure are children who are newly diagnosed and do not have advanced stage cerebral disease.

Finding a genetic counselor and/or a medical geneticist near you would be an ideal way to make sure you have the information you need for your adrenoleukodystrophy to be managed correctly. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Make sure your primary care physician has the appropriate information on adrenoleukodystrophy in order to ensure that you are receiving the proper medical management.

Unfortunately, the severity of adrenoleukodystrophy cannot be predicted. Clinical symptoms, severity, and progression all differ from one person to the next.

Children with adrenoleukodystrophy usually begin to show symptoms between 4 and 10 years of age. If left untreated, the prognosis can be poor. Children who are not treated or there is a significant delay in diagnosis (allowing significant symptoms to develop) die within one to ten years after symptoms develop. Available treatment options have been shown to alter prognosis, but it is not a guarantee. For people who develop symptoms later on, disease progression and prognosis vary widely from person to person.

Below are a few helpful steps if you have been diagnosed with ALD and want to know who to see and what to do next:

1. The best place to start learning about ALD is seeing a neurologist or genetic doctor in your area that focuses on ALD. If you haven't had genetic testing for ALD they can help order that. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.
2. There is an adult form of ALD that is called Adrenomyeloneuropathy or AMN. A neurologist of genetic doctor can confirm this, but in the meantime ALD Life has a great on-line brochure called Practical Information for Men with AMN.
3. Currently there is no cure for AMN, but to learn about treatment options it can be very useful to reach out to the Moser Center at Kennedy Krieger. You can all them at (844) 334-3211 or visit their website.
4. There are some options for support and learning more about life with ALD/AMN. Start by talking with David Cry at the ALD Foundation. He can be reached by phone at (985) 718-4728 or email at information@aldfoundation.org. Other support sites that could be useful are the StopALD Foundation or the Myelin Project.