Private draft — medical review pending. This post shares our family’s perspective and research discussion. It is educational and does not replace advice from your care team.
You’re still trying to understand what a result related to adrenoleukodystrophy (ALD) means for your family. Then another question comes up: What about everyone else?
Do your brothers and sisters need to know? What about their kids? How do you bring it up without scaring them when you’re still trying to make sense of it yourself?
These conversations can be difficult. You want the people you love to have information that could matter to them. You also may not know exactly what the result means or who should be tested. That’s a lot to carry.
A genetic counselor or doctor can help you understand the result, work out who may need to know, and decide where to start.
What is cascade testing for ALD?
When a genetic condition is found in one person, it can raise questions for biological relatives. Cascade testing is the process of sharing that information with family members and offering appropriate testing to relatives who may have the same genetic change.
It doesn’t mean everyone in the family has ALD or that everyone needs the same test. A genetics professional can look at the actual result, how people are related, and whether anyone has already been tested to help decide who may benefit from a conversation or evaluation. The CDC explains how cascade testing works.
If a disease-causing or likely disease-causing change in the ABCD1 gene is known in a family, a genetics professional may discuss testing certain relatives for that specific change. Even then, a result doesn’t tell a person exactly how ALD will affect them. That’s something to talk through with the care team. International recommendations for ALD.
Start with the actual result
Before you try to explain the result to everyone else, it can help to ask your doctor or genetic counselor what the report says and what is known about it. If you have a copy of the genetic laboratory report, bring it to that conversation.
Some questions to ask:
What exactly did the test find, and how certain is its interpretation?
Which biological relatives might benefit from genetic counseling or testing?
Is there anyone who should speak with a care team more promptly, including children?
What would a positive, negative, or uncertain result mean in our family?
What information should I share, and who should I talk to first?
Who will let us know if the laboratory updates its interpretation?
The answers will depend on your family’s situation. A counselor can help map the family relationships and explain what the different results might—and might not—tell you.
How do I tell my family about ALD testing?
You don’t need a perfect script. You can start with what you know and offer a way for your relative to get more information. For example:
“We learned something about ALD in our family that could be important for other relatives to know. I don’t have all the answers, but I’d like to share what we’ve learned. A genetic counselor can help explain whether it has any implications for you or the kids.”
You might say it in person, make a call, or send a short message first. You know your family, and you can choose a way to start that gives them room to ask questions.
It’s okay to tell them you’re still learning, too. You’re sharing information because you care about them, not because you’re expected to have every medical answer.
What should I share with relatives?
A relative may want something they can take to their own doctor or genetic counselor. With permission, a copy of the relevant genetic report can help their care team see the exact finding and its classification. Your genetics team may also be able to help prepare a short family letter.
You could ask, “Would it help if I sent you the information for your doctor?” You might also offer to help them find a genetic counselor or join an appointment if they want support.
A report contains personal health information. Ask before sharing someone else’s results, and let your relative decide how they’d prefer to receive the information. The CDC’s family communication guidance includes options for sharing a report or a letter.
What if the family’s genetic result is uncertain?
Some families are told they have a variant of uncertain significance, or VUS. That means there isn’t enough evidence to determine whether that particular genetic change causes disease.
A VUS alone does not give a definitive yes-or-no answer about ALD or a relative’s future risk. In some situations, a genetics team may discuss testing selected relatives or looking at other clinical or laboratory information to help understand an uncertain result. They can also explain the limits of that information. MedlinePlus explains how genetic test results are interpreted.
If that’s where your family is, you can say so:
“We don’t yet know what this genetic result means. Our genetics team can help explain what’s known and whether there’s anything the family should do next.”
You don’t have to make the result sound more certain than it is. Ask the genetics team how the result will be followed and how you would hear about a change in its classification.
What about women, children, and relatives who feel fine?
ALD can affect women, too. A normal very-long-chain fatty acid, or VLCFA, blood result alone does not reliably rule out ALD in women. Blood tests and genetic tests answer different questions, so a genetics professional can explain which evaluation makes sense for a particular relative. International ALD recommendations.
When children may be affected, ask the genetics team or pediatrician whether an evaluation is appropriate and how soon. For some at-risk boys, ALD-related health problems can arise in childhood, and a specialist can explain the value and timing of evaluation. That doesn’t mean every child has ALD or needs the same testing or care.
A relative who feels well can still ask what the family result means for them. And if you believe a child had a normal newborn screen, it’s still worth telling their pediatrician about the family result. Screening and diagnostic testing are different, and newborn screening programs vary by place and time. HRSA explains newborn screening results and follow-up.
What if someone doesn’t want to talk about testing?
This can be one of the hardest parts. You’re sharing something because you care, and the person you’re talking to may not want to hear it—or may need time to process it.
Ask what concerns them, listen, and give them room to decide whether to discuss or pursue their own testing. If you’re worried about a child or another relative, ask your genetics team what information to share, who may be able to seek evaluation, and how soon. One relative declining their own test does not automatically mean there are no options for other family members.
You don’t have to do this alone
There’s already so much to take in when ALD enters the conversation. Having to explain it to the rest of your family can feel like one more thing you’re supposed to get right.
Start with what you know. Ask for help with what you don’t. And remember that giving someone information and a way to ask their own questions can be an act of care.
The Lucas Project shares information and family perspectives. It is not a medical site and does not provide medical advice. Talk with a doctor, pediatrician, genetic counselor, or ALD care team about your family’s results and care.