My youngest child, Hannah, was seven months old when my husband, Robert, and I sat across a desk from a geneticist at one of the top children’s hospitals in the US. The path we had to take had been long. Five months of going from specialist to specialist, from test to test, with no answers, until Robert took the symptoms everyone kept naming, the enlarged spleen, the dangerously low platelets, and Googled them himself until one disease kept coming up: Gaucher disease. That search is why we pushed for fibroblast testing, a single hole punch in our daughter’s arm to take her DNA to be analyzed. The results took two months.

While we waited, Hannah sat on my lap, happy and charming and entirely herself. She did not look sick. Whatever was happening was happening inside her, where I could not see it or reach it. That is the gap I want you to understand before anything else. My child in front of me and the words about to be said in that room did not match. The diagnosis was Gaucher disease, likely type 2. The prognosis was that she would not live to see her first birthday. We were told to “take her home and love her.”

What 2009 got wrong

This was 2009, and I want to be specific about what failed us, because “the healthcare system” is too easy to say. Two things failed us in that room. The first was how the diagnosis was delivered. The geneticist was not unkind, but he was clearly out of his depth. He gave us the diagnosis the way you would read a lab result, and he had almost nothing to offer for what came after. I do not think that was a character flaw. I think no one had ever taught him how to tell two parents their daughter was going to die, because that is treated as a soft skill instead of a core one.

The second failure was bigger. A rare diagnosis is handed to you as an ending, an answer to a hard-to-solve puzzle. The people who deliver it treat it as the last meaningful thing they can provide. Then their team leaves the room and you are left with words that you have to navigate into meaning.

No one tells you the diagnosis isn't the hard part. The hard part is the thousand days after it, and you will face most of them without a guide unless you go and build one yourself.

Some of this has changed. The best hospitals today, the ones with experience in rare diseases, deliver a diagnosis very differently now than they did in 2009, and that progress is real and meaningful. But it has not reached most places. Many families hearing a rare diagnosis today still get some version of what we got. That is why I am still writing about it seventeen years later.

So here is what I wish someone had said to me in that office. Not the comfortable version, the version I actually needed. None of it is complicated. All of it would have saved me time I did not have to spare.

Go looking for people, not just papers

The night we got Hannah’s diagnosis, I got online and did not really stop. I had absolutely no science background, and I sat there reading medical journals I was not equipped to read, every waking hour, trying to understand a disease I had never heard of three days earlier.

But here is what I would tell a newly diagnosed parent about that scramble to take in what you can to understand what you have been given. You think you are looking for information. What you are actually looking for is people. The research matters most for where it leads you, and where it needs to lead you is to someone who has done this before.

For me, in 2009, that took months, because there was no community to find. There was no patient group for my daughter’s subtype of Gaucher disease that had already gathered families together, so I had no place to land. I read, and I searched until the searching finally turned up a person: Chris Hempel, a mother of twin girls with Niemann-Pick type C.

Chris had been exactly where I was, further down the same kind of road, and she became my mentor. She showed me how to find the right researchers to contact, which steps to follow in what order, and how to turn my panic into something organized. I did not find her because the system pointed me to her. I found her because I refused to stop looking.

Today, a newly diagnosed parent often has a softer landing than I did. Patient groups now exist for many rare conditions, communities that real patient and parent advocates built so the next family would not have to start alone.

But not for every disease. The rarest and most overlooked conditions still have no community waiting, and the families living with those diagnoses still have to do what I did: search in the dark until they find one other person. That gap, between the diseases that have a community and the ones that do not, is the thing I have spent seventeen years trying to close.

If a patient group exists, use it early

If a patient group or nonprofit exists for your child’s diagnosis, get involved early, and do not be shy about it. Introduce yourself directly to the leadership. In our rare disease community, the person running the organization is often a parent or patient who has lived through what you're experiencing now, and they haven't forgotten what your first month feels like. Ask them what resources already exist before you set out to build your own. And if you don't yet know what to ask your child’s doctors, ask the group first. No question is too basic, and walking into an appointment with the right questions in hand changes what you walk out with.

Walk into the room as the most informed person in it

That last point deserves its own place, because it is the most useful thing I can hand you, and almost no one says it out loud because it sounds arrogant. It is not.

With a rare disease, you will frequently sit across from intelligent, well-trained physicians who have never seen your child’s condition and never will again. You are not there to defer. You are there to inform. Request every record, every visit note, every lab, and keep your own organized copy. There are apps now that will do this for you, tracking records, medications, and appointments in one place, and they did not exist when I was starting out. Use them. Then learn the vocabulary of your child’s specific disease until you can use it without flinching.

The parent who walks in organized and fluent gets a different standard of care than the parent who walks in apologetic, and that is not how it should be, but it is how it is, and your child cannot afford for you to learn that lesson the slow way I did.

Grief and advocacy are the same job

None of what I've described waits for you to feel ready. That is the part I most want a new parent to hear. I lost months believing I had to be done being devastated before I was allowed to be useful. I thought there was a sequence: fall apart, recover, then function. There is no sequence.

We made some of the most important medical decisions of Hannah’s life on days I could not form a sentence without crying. That is not a failure of composure. That is what this work is. If you are waiting until you feel strong enough, I need you to hear that the feeling is not coming, and the waiting has a cost measured in your child’s actual days. You do not build capacity and then act. You act, and the capacity builds underneath you. Badly at first. Then less badly.

You do not have to carry all of it

Doing the work while you grieve what you imagined for your child is only possible if you are not also trying to do everything. After a rare diagnosis, the list is infinite: insurance appeals, durable medical equipment, school plans, therapies, research, fundraising, policy. I believed a good parent mastered all of it, and I nearly broke myself trying to prove it.

Here is what I know now. Advocacy is not all-or-nothing, and the parent who does one thing consistently is worth more to their child than the parent who does ten things until they collapse. Pick your lane on purpose. Maybe insurance is yours, and you let a grandparent own equipment logistics. Maybe you run the medical relationships, and someone else handles school. Deciding what you will not carry is not a moral failure. It is the single clearest sign that you have understood the size of this and intend to last.

Quiet advocacy still counts

Your foundation to manage your children’s disease is advocacy. So is walking into one appointment with the right three questions written on an index card. So is keeping your child comfortable, seen, and known, and making sure every adult in that child’s life understands the diagnosis well enough to act in an emergency. I have watched parents apologize for not doing more, and it has made me angry every time, because the parent doing patient, daily advocacy inside their own home is doing the entire job. There is no hierarchy. Do not let anyone, including the voice in your own head on a hard night, tell you it does not count. It matters more than you can imagine.

The diagnosis is only the beginning of the journey

My husband and I went on to build the Little Miss Hannah Foundation. We started it within days of losing Hannah, at three years, four months, and nine days old, though the paperwork to formally incorporate took until the summer of 2012. We did not build it to chase a cure. We built it for the families living the reality right now, including the ones a treatment will never reach in time, because those were our people, and almost no one locally was serving them. We ran it for thirteen years.

That day in the geneticist’s office felt like the end of the entire story. It was the first page of the most meaningful work of my life. I will not tell you it gets easier, because that is not true, and you've already heard enough from people who meant well but didn't know better.

What I will tell you is this. You are not alone, even though that moment in the doctor’s office feels like the most isolating experience. You do not need a plan for the upcoming weeks and years. You need the next family, the next question, and the next decision in front of you, and you can let the rest wait without guilt.

The rare disease community took me in when I had no map and no idea one existed, and I am still here so the next parent walking out of that geneticist’s office doesn't have to find all of this the slow, costly way I did.

If that is you right now, I am one of the families further down the road. Come find me.

First published on LinkedIn, May 27, 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.

The second started three days after my sweet Little Miss Hannah was born in July 2008. So many people were asking for updates that having one place to share them was easier. That blog followed her diagnosis of Gaucher disease type 2, her life, her death, and the first years without her. I started it for the people who already knew us. Along the way, it connected us with researchers, reporters, and other families.

Writing has always been a kind of therapy for me. It still is. Now, I also write because there are things families think and rarely say out loud, and assumptions about rare disease that deserve a closer look.

Here, I write about what happens after a diagnosis, the distance between support on paper and help in everyday life, and the parts of family life that can get overlooked when so much revolves around one person’s care. I bring my experience as a rare disease parent and advocate, knowing that another family may experience the same thing differently.

Some pieces are for families and people living with rare disease. Others are for advocates, clinicians, and anyone whose work touches their lives. I hope you recognize something you have struggled to explain, or understand something you hadn’t considered.

I’m bringing earlier articles together here alongside new writing. All of it is free. If this sounds like writing you’d like to keep reading, subscribe to receive new pieces by email.

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A good place to start is The Geneticist’s Office, about the day of a diagnosis and what no one tells you afterward. If it puts words to something you’ve experienced, or helps you understand someone else’s life, send it to someone who needs to hear it.

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