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.
By Alison Adler
When Lucas was three months old, we got a call that divided our lives into two parts: life before ALD and life after ALD.
In 2017, California had only recently started screening newborns for adrenoleukodystrophy, or ALD. I remember hearing what this disease could mean and trying to understand how it could be part of our baby’s life. I don’t remember much from those first days. The shock and trauma seem to have erased so much, including some of the good parts of having a new baby.
One question kept coming back to me: Were there people out there who never developed symptoms?
At the time, the message I understood was that everyone with ALD would eventually have symptoms. We researched everything. I found the words “likely pathogenic” next to our family’s genetic variant on an ALD information site. To a researcher or doctor, that is a classification. But to us, likely pathogenic meant likely a brain lesion.
That was what I feared, not an answer about Lucas’s future. The classification of a genetic variant and the question of how a particular person will be affected are not the same thing. But in that moment, those words felt like a prediction.
The ALD monitoring plan that helped us
We found ALD Connect and met other families. Not long after, we went to Stanford and met Dr. Keith Van Haren and the ALD team. They gave us something we desperately needed: a plan.
We couldn’t control what might happen in the future. But we could show up for appointments and make sure Lucas was being monitored. When we first got that plan, it felt like something we could hold on to. I am still grateful for it and for the people who helped us.
As the years went on, though, ALD became much bigger than appointments. It shaped how we parented, how we heard every symptom, and how much fear we carried into ordinary days. There were blood draws and MRIs, decisions about anesthesia, time away from work, and the weight of trying to give our children a normal childhood while waiting for answers.
Some of those appointments were frightening. Some were exhausting. And we kept going because we wanted to protect Lucas. I’m not saying his MRIs were wrong. We agreed to them. I don’t know what he will need in the future, and I am not asking anyone to stop monitoring. But families should be able to ask what we know about their child’s risk, why a plan is recommended, and what evidence supports it. Those are conversations to have with their care team.
A discovery that changed my questions about ALD
Years into our journey, further family testing brought us an unexpected answer. My dad had the same genetic variant as Lucas. Before that, we hadn’t known it was on his side of the family.
I was terrified for him. My fears shifted to my dad, and I wondered what this could mean for his health.
But I also kept thinking about the life he had lived. He was in his seventies, still working and spending time with his family. For decades, he had lived without knowing about this variant or following an ALD monitoring plan.
Then I thought about Lucas, growing up with the same variant and a very different experience: the appointments, the tests, and parents waiting and watching. My dad and Lucas even share the same birthday.
I don’t know what my dad’s experience means for Lucas’s future. One person’s experience cannot tell us exactly what will happen to another. But seeing their lives side by side made me ask the question I had asked from the beginning: How much do we really understand about the differences between families, and between people in the same family?
Both things are true
I believe in newborn screening. I have sat with parents who have lost their sons, and I would do this all over again to save a single child. Finding children who may be at risk gives families and doctors a chance to follow them and, when appropriate, act early.
I also believe we need to talk honestly about what years of monitoring can mean for a child and a family. The fear between appointments is real. So are the time, financial, and emotional costs. From the outside, families whose children remain well can look like the lucky ones. But that doesn’t mean the fear between appointments isn’t real.
Both things are true. Newborn screening has the potential to save lives. And families deserve support, clear information, and room to ask questions about the care being recommended.
That’s why I care so much about the Grey Zone Project and the work being done to understand ALD more fully. I hope researchers can learn more about genetic variants, biomarkers, family history, and long-term outcomes, so that doctors and families have better evidence to guide care. That research is still developing; my family’s experience is one part of a much bigger conversation, not proof of what another child’s future will be.
We tried to turn some of our fear into action. We helped bring families together through ALD Family Weekend and started The Lucas Project. Supporting research gave us a way to work toward better answers. Connecting with other families reminded us that we weren’t alone in the questions we were asking.
To the family who just got the call
If you are holding a new baby and trying to understand a newborn-screening result, I am with you. I know how terrifying and exhausting those first conversations can be.
Please hold on to hope. An out-of-range newborn-screening result needs prompt follow-up, and your child’s doctors and genetics team can help you understand what the results mean. If your baby is ill, seek urgent medical care. Ask about what is known, what remains uncertain, and why each part of the plan is recommended. Ask for support for everything that happens between appointments, too.
We don’t know what will happen to Lucas. But we do know there is more than one family story in the ALD community. Families deserve honest answers, a plan, and a place in the conversation about the research that will shape their children’s care.
The Lucas Project shares family experiences and information; it does not provide medical advice. Discuss screening results, monitoring, and care with your child’s pediatrician, genetic counselor, and ALD care team.
Sources for medical context: HRSA: Newborn screening results and follow-up; ACMG: X-ALD newborn-screen guidance; International recommendations for the diagnosis and management of ALD; The Grey Zone Project: exploratory research.