Hi Everyone,

I have news: a potential diagnosis that might explain what’s been going on with my health.

A little context: Last year, right after giving birth to my son and ending up in the ICU, a friend went down a Google rabbit hole and found a blog called Rare Disease Girl by Taylor Coffman. Taylor also nearly lost her kidneys and her life during childbirth. She was eventually diagnosed with a rare disease called atypical hemolytic uremic syndrome (aHUS).

Here’s a brief explanation of aHUS (read or skip!):
aHUS is a rare disease that causes tiny blood clots to form in vital organs, especially the kidneys, which can lead to serious damage and other complications. It can be triggered by factors like pregnancy, viral infections, or certain medications. Also some people who develop it have an underlying genetic susceptibility. In aHUS, the complement system—part of the immune system that usually helps fight infection—doesn’t turn off like it’s supposed to. Instead, it stays switched on and starts attacking the body’s own blood vessels, especially in the kidneys.

When I read Taylor’s story, I remember thinking, Wow, this is wild what happened to her, and this sounds a lot like what happened to me. I found her blog to be well-written and relatable, and she provided tons of practical resources. So, while I hadn’t been diagnosed with aHUS at the time, I’ve been following her ever since.

Back in May 2024, I was tested for aHUS to see if it could explain what happened during childbirth and why my kidneys failed. The results showed I was missing one copy of two genes (CFHR1 and CFHR3), which can increase the risk for aHUS—but at the time, it wasn’t seen as a clear diagnosis. Since the rest of the genetic panel didn’t show much, we were more focused then on figuring out whether Barney might be a carrier, so we prioritized testing Ian instead of looking more closely at how this might affect me—and to be honest, I forgot about it.

Fast forward to now: My transplanted kidney has been showing signs of severe rejection—not getting worse, but not improving either—despite plasma exchange and immunotherapies (which are also used to treat aHUS). I also had complications after a minor procedure last year that made me start wondering again if something autoimmune was being missed.

Thankfully, one of my nephrologists took my concerns seriously. He re-reviewed the genetic test and looked into other autoimmune causes. That’s when he came across newer research suggesting that even a single deletion in CFHR1/CFHR3 can increase a person’s risk for aHUS—especially when paired with an environmental trigger like pregnancy or a viral infection (both of which impacted me: pregnancy last year, and a virus this year).

Based on my genetic background, recent biopsy, and lab findings, the current working diagnosis is aHUS.

I started ravulizumab (Ultomiris) infusions this morning. Ultomiris works by blocking part of the complement system to keep it from attacking the body’s own blood vessels. The goal is to reduce further kidney damage and potentially turn things around.

Emotionally, I’m feeling a mix of relief, anger, and fear. I’m grateful we might finally be on the right track. But I’m also frustrated that this wasn’t caught sooner.

Physically, the past couple of weeks have been rough. Between plasma exchange and IVIG treatments, I’ve been dealing with a lot of nausea, migraines, and vomiting. I’m still figuring out the right timing for my meds, but it’s slowly getting better. I’ve spent most of my days resting, listening to audiobooks, watching TV, and scrolling Instagram.

I’m trying now to get in with a top aHUS nephrologist at Johns Hopkins and hematologists at MedStar Georgetown for expert opinions.

I also reached out to Taylor, and she’s going to be talking with me tomorrow to help support me until I can connect with a specialist. That means a lot to me.

That’s my big update. Wild, right?

Please keep sending me cards, emails, texts, and pictures—they’re a welcome distraction. If I don’t reply, please don’t take it personally; I read and appreciate everything you send.

I’ll keep you posted as I get more updates.

Love,
Danielle