Understanding ALD

Navigating Testing
& Diagnosis

Understanding ALD

Navigating Testing
& Diagnosis

Navigating an
ALD Diagnosis

Navigating an adrenoleukodystrophy (ALD) diagnosis can come with a lot of questions. It’s important to remember that no matter where you are in your ALD journey, having a care plan in place can help you be prepared. 
At the time of diagnosis, I didn't even hear what he said, I just heard a very long word.
Marisa Vutrano
ALD caregiver
At the time of diagnosis, I didn't even hear what he said, I just heard a very long word.
Marisa Vutrano
ALD caregiver
THERE ARE A FEW WAYS A CHILD MAY BE DIAGNOSED WITH ALD:

For those who were not diagnosed through newborn screening, an endocrinologist or geneticist/genetic counselor can confirm an ALD diagnosis by measuring very long–chain fatty acids (VLCFAs) levels in blood plasma and testing for a mutation in the ABCD1 gene.

Family History: Importance of Testing Family Members

Receiving an ALD diagnosis may be overwhelming but you can take control by building out your care team. Because ALD is a genetic disease, you may want to meet with a geneticist or genetic counselor to determine if ALD has been passed down to your child or if it occurred spontaneously (de novo). 

If genetic testing reveals that ALD does run in your family, your geneticist will be able to help you identify who in your immediate and extended family should be tested. 

This information empowers you to care for your children…It empowers you to keep them healthy...to enjoy every moment...and to know that this could be okay.
Suzanne Flynn
ALD caregiver
This information empowers you to care for your children…It empowers you to keep them healthy...to enjoy every moment...and to know that this could be okay.
Suzanne Flynn
ALD caregiver

Conversations about diagnosing ALD and genetic testing can be hard to predict because every family is unique. However, testing is critical because it can lead to diagnosis of ALD before symptoms occur. This can also help your family develop their own care plan if needed. Having a care plan in place can help you determine your next steps.

Learn more about talking with a geneticist

Navigating an ALD Diagnosis Through Newborn Screening

Most women of childbearing age know nothing about ALD. I think newborn screening for ALD is such a sensible idea. A simple blood test would save so much heartache.
Deirdre Corr
ALD caregiver
Hear more from the Corr Family and their ALD journey.
Watch the Corr family video
Most women of childbearing age know nothing about ALD. I think newborn screening for ALD is such a sensible idea. A simple blood test would save so much heartache.
Deirdre Corr
ALD caregiver
Hear more from the Corr Family and their ALD journey.
Watch the Corr family video

In 2016, ALD was added to the USA Recommended Uniform Screening Panel (RUSP), which lists genetic diseases recommended for state newborn screening (NBS) programs. Since then, many states have begun screening for ALD. Newborn screening can be lifesaving, as early diagnosis and management of ALD is crucial. 

To learn more about newborn screening, explore the Aidan Jack Seeger Foundation.

If your child has recently been diagnosed through newborn screening, you may feel a number of different emotions. Working with a doctor or ALD specialist can help you develop a care plan and next steps. As you build out your care team, you may want to speak to a geneticist or genetic counselor about screening other family members, particularly siblings.

It’s important to remember that with newborn screening, you can establish a care team early to help manage adrenal symptoms and monitor for cerebral ALD.

Start building your care team

Identifying ALD through Adrenal Symptoms

Since newborn screening for ALD isn’t available in every state, many boys with ALD may be diagnosed through the onset of symptoms. In ALD, adrenal insufficiency is often the first detected symptom. Adrenal insufficiency is a condition where the adrenal glands aren’t producing enough of the hormones that are needed to regulate and balance the body. Adrenal insufficiency symptoms may include:

  • fatigue

  • loss of appetite

  • hyperpigmentation (skin darkening) 

  • belly pain

These symptoms may also mimic other diseases, such as Addison’s disease, so they can often be misdiagnosed as the symptoms can be unrelated to ALD. 

If your child experiences ALD with adrenal insufficiency, learning to manage adrenal symptoms will be an important part of addressing ALD.

Diagnosing ALD through Neurologic Symptoms

Neurologic symptoms of ALD can be difficult to differentiate from other conditions, such as ADHD, autism and other learning disabilities. Without additional testing to confirm ALD, symptoms can easily be mistaken for behavioral or developmental issues, and many boys can go misdiagnosed. 

If your child was diagnosed with ALD through neurologic symptoms, it's important to consult with a neurologist and/or an ALD specialist. This team of specialists will work with you and your family to develop a care plan to manage ALD.