October is Gaucher Disease Awareness Month. Like many awareness days and months in our rare disease world, disease communities like ours come together to do a heavy push on social media and in other public outlets to find ways to tell our stories and raise funds, to encourage empathy from the communities around us, and honestly, we hope that people outside our small disease community will understand the value of the stories we share and carry them far beyond our little rare disease world.
One disease, two very different communities
As many of you know, Hannah had Gaucher disease type 2, the neuronopathic form of Gaucher disease. Gaucher disease as a whole is rare, and the larger community, made up primarily of type 1 families, welcomed us. But type 1, the form most people have and the non-neuronopathic form (little to no effect on the brain), has had an approved treatment since the early 1990s, and many people with it live full lives. Type 2 had no treatment that crossed the blood-brain barrier and nothing in the research pipeline close to the finish line.
So we were a single disease community significantly divided by our symptoms and our treatment options. One segment of the community had a treatment and a future. Families in the other segment, same disease, different subtype, usually lost their children before the age of three. We didn’t really feel like we could relate.
Because of the blog I kept at LittleMissHannah.com, families of children with type 2 and type 3 (the juvenile form) found me through search engines and reached out. A few dozen families contacted me over Hannah’s three years, because I was one of the first public people sharing our day-to-day challenges with this subtype of Gaucher disease. Many of their children had already passed away, but their parents had finally found someone who could relate to them. I became the bridge for the neuronopathic Gaucher community without even realizing that’s what I would become.
After Hannah died, the families kept coming. At least a few times a month, someone found her blog by searching the name of the disease, and newly diagnosed parents were still emailing me for help. So, in 2012 I started a private Facebook group for families of children with type 2 and type 3. I wasn’t building an organization or a registry. I wanted a safe place where a parent could ask a hard question without strangers reading it, and where a family who had lost their child could stay without having to explain why they were still there. We had one rule when I ran it: no researchers, no physicians, no students. Because this subtype is ultra-rare, our group never got big, but it did grow, one family at a time, from countries all over the world. It’s still open today, with over 500 members, and most of us are parents whose children have passed.
Two dozen faces on one Photoshop screen
At some point I decided the group needed a cover graphic. I asked the families for a photo of their child, and they sent them, which is its own kind of trust when your child is gone. I spent hours one evening lining them up in Photoshop (long before AI and online tools could do it easily), cropping, resizing, and moving faces around until the collage looked right. It was busywork, the kind of thing you do to feel like you’re doing something meaningful.
Somewhere in that evening I stopped moving photos and just looked. The type 2 kids all had the same nose. Small, turned up at the end, the same shape on every one of them. We had always said Hannah had a “cute button nose” and joked that we didn’t know where she got it from. Now I was looking at a screen full of children I had never met in person, and every one of them had it.
I’m not a clinician, and I had no way to tell a pattern from a coincidence. What I had was something no clinic had: about two dozen type 2 children in one place, side by side. NIH’s Gaucher natural history study sees a few children with type 2 a year. Nobody there had ever had a reason to line up their faces. Our families had put them there without meaning to.
The pattern the researchers could not see
I sent what I had seen to the lead principal investigator of the Gaucher natural history study at the NIH, who had become a strong advocate for Hannah and a real support to me. She went back through the photographs of every type 2 child her team had evaluated, and she confirmed it. The feature was real.
In 2014, her team published a clinical management guide for type 2 Gaucher disease, written for the doctors who meet these babies when they first start showing symptoms, while the diagnosis is still a guess. It describes the facial features to look for, and the button nose is one of them, though they describe it more technically. The NIH PI contacted me herself to tell me it was in the paper. It’s still on PubMed today.
Stanford Medicine’s Scope blog told this story in 2017, and this NIH researcher said she learned a great deal from my Hannah, and that parents can help medical professionals learn about a disease. That guide is what a pediatrician or geneticist finds when they look for what type 2 looks like. The science was theirs, and the writing was theirs.
Ironically, the first observation came from inside a Facebook group that had a rule against letting researchers in.
What families see that researchers can’t
Clinicians and researchers see our children one at a time, on the worst days, in an exam room, for an hour if they are lucky. Families see them every day, at every stage, in every mood, and when we gather, we see them all at once. We know which symptoms showed up first in every child in the group, what regression looks like at home, what stopped working, and in what order. That is data. It just doesn’t live anywhere a researcher can query, because we built these private Facebook groups to keep researchers out.
So this is what I would say to a parent running one of these groups now. The thing you built to survive is also a record. You are sitting on observations that the researchers studying your disease are not positioned to make, because they can’t see your kids the way you do. When something keeps repeating across families, write it down, keep it de-identified, and send it to the researcher who knows your disease best. Worst case, you get a kind reply and nothing more. The best case is that a pediatric specialist you’ll never meet recognizes a baby you’ll never meet a little sooner.
I started that Facebook group because our families were alone and I couldn’t fix that. I didn’t know what to do with all the families who came to me for a connection, and I had a hard time being the one everyone turned to, whether it was a parent who needed to talk to someone who got it, or a family with desperate questions about where to go next. I never expected it to change anything about how this disease is diagnosed. It did anyway, in a small way, through a Facebook cover photo.
First published on LinkedIn, October 6, 2026.
These views are my own, written as a rare disease parent and advocate, and do not represent any employer or organization I work with.