Guide for Newly Diagnosed Patients & Families
Naturally, people often do not know what to do next after they or a loved one receives an ALD diagnosis. The following guide is intended to help.
Step 1: Is the diagnosis correct?
There are two essential lab tests to confirm ALD:
1. Elevated very long chain fatty acids (VLCFAs)
2. Abnormality in the ABCD1 gene
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 the diagnosis.
An ALD diagnosis is not an automatic death sentence. There are many non-fatal forms of the disease and therapies for those that are. But it is important to put the right medical team in place and follow certain care guidelines.
Step 2: What do I do next?
1. Make an appointment to talk to your primary care doctor about the diagnosis right away.
2. Work with your primary care doctor to get a prompt referral to see these three specialists: (1) a neurologist; (2) an endocrinologist; and (3) a geneticist.
3. Provide your medical team with the widely accepted ALD care guidelines found here: www.ojrd.com/content/7/1/51
4. Make sure you and each member of the medical team have a clear understanding of who is in charge of what.
5. Promptly begin working through the care decision tree found in the published care guidelines.
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 needs 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 and how best to provide support.
Other family members outside of your immediate family should be told of the ALD diagnosis because it is important that they be tested for the ALD gene mutation as well. Because the defective gene may be passed down from generation to generation, family testing often identifies other members as patients. Testing also empowers family members who may be considering having children.
Step 4: What treatments are available?
Here is a brief list of current medical therapies to discuss with your medical team:
For asymptomagtic boys age 3-10 years
• Lorenzo’s Oil
For adrenal insufficiency (if diagnosed by an endocrinologist)
• Daily oral steroids
For cerebral ALD
• Prompt evaluation for BMT (Bone Marrow Transplant)
• Rehab therapy
• Symptomatic medications for pain and stiffness
• Diet and Exercise
• Clinical trials are forming and will be enrolling soon
Step 5: How can I help others affected by ALD?
You can help those affected by ALD through education and sharing accurate information about the disease with the public and your medical team. You can participate in a clinical trial and ALD Connect’s [Patient Portal] so the research community can better understand the disease.