For Patients & Families

New Diagnosis

Step 1: Is the diagnosis correct?

  • There are two essential lab tests to confirm ALD/AMN:
  • Elevated very long chain fatty acids (VLCFAs)
  • Gene abnormality in ABCD1

VLCFAs may also be increased in a few disorders  other than ALD  (and because they may not be elevated in some women with ALD), gene testing is very important to confirm who is at risk for complications of ALD.

Step 2: What do I do next?

Step 1: Make an appointment to talk to your primary care doctor about the diagnosis right away
Step 2: Work with your primary care doctor to get a prompt referral to see these three specialists (1) a neurologist, (2) an endocrinologist, (3) a geneticist
Step 3: Make sure your medical team is aware of the ALD/AMN care guidelines that were published in 2012. You can find them here: www.ojrd.com/content/7/1/51
Step 4: Make sure you and each member of the medical team have a clear understanding of who is in charge of what.
Step 5: Promptly begin working through the outpatient care algorithm from the ALD/AMN guidelines
Step 6: Educate yourself & your family about ALD

Symptoms of ALD are highly variable and can occur in any affected individual at any age.  For this reason it is important to follow up with a health professional who is knowledgeable about ALD as soon as possible.   There is much that can be done to improve outcomes in people with ALD.  For example, affected boys must be followed closely to ensure that treatment of symptoms is initiated in a timely fashion in order to maximize its likelihood of success.  

Step 3: Who else needs to know about this?

Your medical team of specialists need to have a clear understanding of their roles in your treatment. They need to know your treatment plan and where each of them falls into it. 

Educating your family about ALD will allow them to better understand what you are going through as well as understand how they can best help you. 

Step 4: What treatments are available?

Current Medical Therapies:

For asymptomagtic boys age 3-10 years
     – Lorenzo’s Oil 

For adrenail insufficiency
    – Daily oral steroids 

For cerebral ALD
    – Prompt evaluation for BMT (Bone Marrow Transplant)

For AMN
    – Rehab therapy 
    – Symptomatic medications for pain and stiffness 
    – Diet and Exercise 
    – Clinical trials are coming 

Step 5: How can I help others affected by ALD?

You can help those affected by ALD through education and the sharing of accurate information about the disease. This can be the sharing of information with other families affected by ALD or helping to educate your medical team.