When I was expecting my first child, my favorite reference book was What to Expect When You’re Expecting. Every twinge, every movement, every bout of nausea, every mood swing would send me running to that book to make sure what I was experiencing was “normal.”
And almost every time, I found what I was looking for. Someone else had experienced this before me. There was an explanation. There was reassurance, and I could breathe a little easier.
There was comfort in knowing I wasn’t alone.
When my daughter was diagnosed with a rare autoimmune disease at four years old, I found myself searching again. This time, though, I wasn’t looking up pregnancy symptoms. I was looking for something, anything, that would tell me what to expect when your whole world is turned upside down and the ground beneath you no longer feels steady.
What should I expect from treatment? How was this going to affect her childhood? How would it affect our family? Was the fear I was feeling typical? Would I always worry this much?
I wanted a book I could pull off the shelf that would tell me what she was going through, what we were going through, and what I was going through as her mom was normal.
That book didn’t exist.
More than a decade later, there are so many things I wish someone had told me in those early days. If you are new to living this Rare Disease Life, here are some things to know…
- Rare disease can feel lonely.
Rare really does mean rare. Your friends and family may love you deeply and still not completely understand your life. Find other families who get it. Community matters. But remember that no two JM journeys are exactly alike. Another child’s story doesn’t predict your child’s future.
- You don’t have to learn everything today.
After diagnosis, there is an overwhelming amount of new information. It might feel like drinking from a firehose: medications, labs, specialists, symptoms, insurance, school accommodations and words you may have never heard before….immunoglobu..what, methotrexa..who??
You will learn it. But you don’t have to learn it all at once, so give yourself grace and patience.
Write down your questions. Ask them again if you don’t understand the answer. Ask them to spell it so you can look it up later. Keep notes. Bring someone with you when you can. You’re allowed to be a Newbie.
- Medicine doesn’t always come with certainty.
This was one of the hardest lessons for me. I wanted someone to tell me exactly what would happen and exactly how to fix it.
Rare disease doesn’t always work that way.
Your child’s medical team brings knowledge, research and experience, but there may still be uncertainty. Treatments that work beautifully for one child may work differently for another. Research continues to evolve.
There will be times when this journey calls for faith. Faith in your providers, faith in the process, and eventually, faith in yourself.
- You will discover strength you didn’t know you had.
I don’t mean the kind of strength that requires you to be positive all the time. You are allowed to be scared, angry, exhausted and overwhelmed.
Strength sometimes looks like asking one more question. Sitting beside another hospital bed. Making another phone call. Or admitting, “I can’t do this by myself today.”
You will do hard things. Not because you want to, but because your child needs you.
5. Your village may surprise you.
Rare disease has a way of revealing who shows up. Some people you expect to be there may not know how. Others may step forward in ways you never imagined.
Let people help. Tell them what you need. And find people who don’t require you to explain why this is so challenging.
And finally, your child’s diagnosis will change your perspective, but it doesn’t have to define your family.
Over time, you may find yourself caring less about the things that once seemed enormous. You learn what matters. You celebrate victories other people might never notice. You learn to hold gratitude and grief, fear and hope, sometimes all at once.
If you’re newly diagnosed, I wish I could hand you that book I was searching for all those years ago. Maybe one day
I can’t tell you exactly what to expect.
But I can tell you this: You don’t have to figure out the whole journey today. Learn what you need for this moment. Ask for help. Find your people. Give yourself grace.
And when tomorrow comes, you’ll learn what you need for that day too.
By: Ronda Thorington, MA, LPC
September 2026
