When our pediatrician called about Lucas’s newborn screen, Alison and I were still getting used to being parents. Then we were trying to understand a word we could barely say. Adrenoleukodystrophy. ALD.
I Googled it. I wanted to know what this meant for our son, and I found some of the scariest stories I’d ever read. We still had a newborn to take care of. What helped was finally talking to people who could look at Lucas’s results with us and tell us what came next.
Get clear on the next step
An out-of-range ALD newborn screen means your baby needs prompt follow-up testing to find out what the result means. Ask what the screen flagged, who is arranging the next test or appointment, and how soon it needs to happen. Ask for a copy of the result and a number you can call if you’re waiting for an appointment. Follow the timing your care team gives you, even if your baby looks well. California’s ALD family action sheet
For us, one of the people we found was Dr. Keith Van Haren at Stanford. It helped to have a specialist who could explain what we knew, what was still uncertain, and what the next appointment was for. Your pediatrician or newborn screening follow-up team can help you figure out who should see your child. Stanford Medicine Children’s Health
Ask what each test is for
As the appointments started, I found it easier to ask about one test at a time. What are we looking for? When will we hear back? Who will explain the result? For boys with confirmed ALD, regular blood tests for adrenal function and brain MRIs are recommended, even when they feel well. Ask the care team when each test should begin. If an MRI is coming up, ask the imaging team what it will be like and what help they can offer your child. If follow-up raises questions for relatives, ask a genetics professional who in the family might benefit from a conversation or testing. International ALD recommendations · Stanford’s pediatric radiology visit guide
You’ll also come across treatment and research headlines. Bring the ones that raise questions to your ALD team. Ask what kind of ALD the story is about, whether it describes a treatment in use or one still being studied, and whether any of it applies to your child right now.
Find people you can talk to
ALD Connect is one place to start. You can also ask your care team if they know of groups for families at the same point in follow-up. Sometimes I wanted information. Sometimes I wanted to hear from another parent who knew how it felt to wait for a call. ALD Connect’s peer mentor program
One family voice I want to share is Jesse Torrey’s. Her book, Smiles & Duct Tape, and her blog tell her family’s story with her son Jack. On the blog she also made room for other families to tell their own stories. Read those accounts as individual experiences. Some were written years ago, and their care details belong to those families and that time. Jesse Torrey’s book launch account · A family story from 2018
We met families who had lost their boys, adults living with ALD, and parents who were still waiting for answers. It took me a while to take all of that in. If you’re reading this with a newborn in your arms, you can make the next call, go to the next appointment, and still have an ordinary afternoon with your kid. I’m glad we found people who reminded us there was room for that.
Related guide: ALD newborn screening guide.