Monitoring will consist of a multidisciplinary team consisting of your pediatrician, neurologist and endocrinologist. You may decide to see a dietitian as well. Included in this section is a list of specialists, a description of the tests they will be performing, and information on how often testing will take place.
Thanks to expanded newborn screening and advancements in ALD research there are now ongoing research project(s) aimed at determining the clinical significance of specific ABCD1 gene variants. While this research is important, at this time there is still no absolute way to correlate one’s ABCD1 variant with disease outcome. Therefore, the recommendation is to follow standard monitoring guidelines. If you have concerns, please discuss this with your ALD expert.
Please remember to keep the contact information for your pediatrician, neurologist, and endocrinologist easily accessible. Keep a record of scheduling appointments as they are outlined under each of the specific monitoring sections. Remember it may take some time to get an appointment with your neurologist and endocrinologist, so please schedule in advance.
Some centers of excellence may offer an “ALD Clinic Day.” This is typically a set day once a month (frequency may vary) where patients can see multiple doctors at once. This makes it easier for doctors across different disciplines to collaborate. Being able to see more than one doctor in one visit also makes the monitoring process easier for patients and their families. Some ALD experts offer clinic days to their patients, so be sure to ask if that is an option for your son.
Learn More About Monitoring Options for ALD
Neurology & MRI Information
An MRI or Magnetic Resonance Imaging is a medical imaging technique used in radiology to form pictures of the brain, and is necessary in order to observe any changes.
Endocrinology & Adrenals
Because of newborn screening, adrenal insufficiency can be detected before a child has significant symptoms and treated with standard therapies.
