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
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.
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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
ALD caregiver
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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
ALD caregiver
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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.
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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
ALD caregiver
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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
ALD caregiver
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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 ALD Alliance.
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.
Identifying ALD through Adrenal Symptoms
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.
