Celebrating Rare Disease Day: Madison's Story

 

For the past two years, I’ve had the privilege of writing stories for my job about families in our school district who are navigating life with rare diseases. I’ve shared their diagnoses, their challenges, their resilience, and the ways our community has rallied around them. Each story has deepened my understanding of what “rare” truly means, not just medically, but emotionally and practically. This year, Rare Disease Day feels different for me. This year, the story is personal. It’s a reminder of the journey our daughter Madison has walked with courage and grace.

It began in sixth grade with bruises.

They were on the backs of her knees. Dark, stubborn bruises that didn’t fade the way bruises are supposed to. We might have brushed them off as playground bumps if my sister hadn’t noticed how long they’d been there. That comment changed everything.

No one prepares you for the phone call telling you to go to pediatrics oncology immediately because it could be leukemia.

Those are words that stop your heart.

We held our breath through tests and tears, bracing for the worst. Thankfully, it wasn’t leukemia. Instead, Madison was diagnosed with Immune Thrombocytopenia (ITP), a rare autoimmune disorder that causes dangerously low platelets. Platelets help blood clot. Without them, even small injuries can become serious.

For some children, ITP is temporary. After 12 months, when Madison’s numbers never rebounded, we heard a new word: chronic. Chronic ITP is a rare, long-term autoimmune disorder with an estimated prevalence of roughly 10 per 100,000 people. 

We learned how to live by platelet counts. We managed medications, watched for bruising, monitored labs, all while trying to give her as normal a middle school life as possible. She went to school dances, studied for tests, laughed with friends, and performed on any stage she could. We fought quietly behind the scenes so she could just be Madison.

By high school, her platelets stabilized. Then something incredible happened: remission. For nearly eight blissful years, ITP faded into the background. We exhaled. She went to college. She planned her future. We allowed ourselves to believe the storm had passed.

Then one summer, home from college, we noticed something wasn’t right.

She had a cough. Labored breathing. It sounded eerily familiar, like the moments before one of my asthma attacks. The night before we were supposed to leave for a long-planned trip to Aaron’s favorite place, bourbon country, I took her to urgent care just to be safe.

One look at her pulse ox changed the room.

Suddenly, doctors and nurses were rushing in. Her oxygen level was so low that they couldn’t believe she had walked in on her own. We were sent straight to the emergency room. Tests revealed blood clots in both of her lungs. Thank goodness we hadn't left yet. 

How does a healthy 20-year-old get blood clots in her lungs?

At first, doctors assumed it was the birth control pills prescribed to help manage her ITP. But one physician wasn’t convinced. It didn’t add up for someone so young.

That’s the first time we heard the words antiphospholipid syndrome (APS), another rare autoimmune disorder that causes the blood to clot too easily.

APS affects an estimated 2 to 5 people per 100,000 each year, and the overall prevalence is roughly 40 to 50 per 100,000. In the United States, that means well under 200,000 people are living with it, meeting the federal definition of a rare disease. It’s something most people, including us, had never even heard of.

Hospitalization. Specialists. Blood thinners. Follow-ups. New vocabulary. A new reality.

That fall, we sent her back to college, hopeful and admittedly naïve about what APS could do beyond clotting.

APS doesn’t just create dangerous clots. It can bring extreme fatigue and relentless brain fog. Concentration becomes slippery. Studying feels impossible. Your body feels heavy. Madison, once laser-focused and driven, slept constantly. She pushed through classes, but in November, she called and told us she was coming home at the end of that semester and would not be returning to Wisconsin. She would finish the next semester online.

This disease, even when not actively clotting, was quietly ravaging her life.

She was no longer our focused college student chasing goals. She was our exhausted 21-year-old taking daily naps, frustrated by failing courses, confused by a brain that wouldn’t cooperate. We thought she was overwhelmed with all the change and was adjusting to a new way of life. We had no idea!

Then came December 2025.

As we were looking forward to winter break and Christmas, we received another shock: her platelets were at 1,000. Normal is between 200,000 and 300,000.

One thousand.

Since then, it has been a blur of infusions, hospital stays, countless ER visits, and more medications than most people her age can imagine. At 22, she manages blood thinners for APS while battling a disease that makes her prone to bleeding. Two rare, conflicting conditions, one causing clotting, the other causing bleeding. It’s a medical tightrope walk.

The other day, she came home from an appointment and said something that stopped me in my tracks.

“I found myself envying a cancer patient.”

Why? I asked, startled.

“Because you can tell they’re sick.”

Invisible rare diseases are complicated. When you look healthy, people assume you are healthy. They don’t see the fatigue that makes showering feel like a marathon. They don’t see the brain fog that turns simple tasks into puzzles. They don’t see the fear of the next clot or the next dangerously low platelet count.

There is no cure for ITP. There is no cure for APS. There is only management. Monitoring. Adjusting. Fighting. Fighting that makes an already extremely tired individual even more tired.  

Rare has taught us a lot.

It has taught us that strength doesn’t always look loud or dramatic. Sometimes it looks like getting up for an infusion. Visiting family when your brain feels wrapped in cotton. Swallowing another handful of pills with quiet determination.

Rare has taught us gratitude, Gratitude for joy, for sunshine, for the special day each week that our girls call "sister time." And gratitude for any glimpse of hope.  

Rare has taught us that remission is a gift, stability is a victory, and oxygen levels matter more than vacation plans. Most of all, rare has taught us who Madison is.

She is resilient. She is brave. She is more than her platelet count and more than her clotting factors. She is not defined by what her immune system does wrong.

On Rare Disease Day, we honor the millions who fight battles few can see. We advocate for awareness and understanding.

And we celebrate our daughter — rare, yes — but also mighty. Because rare has taken so much. But it has also revealed extraordinary strength.