KMT2E Foundation O'Donnell-Luria-Rodan Syndrome

KMT2E Foundation O'Donnell-Luria-Rodan Syndrome KMT2E Foundation is accelerating research and treatment options for KMT2E (ODLURO) Syndrome. We work with Simons Searchlight and Citizen Health. EIN: 33-3590325

Run in partnership with KMT2C Foundation Board & Council and KMT Gene Family Foundation.

📣 Simons Searchlight Releases New Quarterly Reports! 📣📊 Your Simons Searchlight July 2026 quarterly report is here—with ...
07/10/2026

📣 Simons Searchlight Releases New Quarterly Reports! 📣
📊 Your Simons Searchlight July 2026 quarterly report is here—with updated insights and fresh data on individuals with KMT2E-related syndrome, powered by families like yours.
Check out the valuable information in this report here: https://bit.ly/KMT2EReport
These reports are based on medical history information generously shared by participants and include data in four key areas:
- Age Ranges
- Developmental and Behavioral Conditions
- Neurological Conditions
- Gastrointestinal Conditions
They also feature community participation progress numbers, showing how families are actively moving research forward.
💡 By completing surveys over time, you're helping researchers better understand your condition and how it changes across the lifespan. Together, we’re turning limited knowledge into meaningful discoveries—for your family and others in the future.
Thank you for being part of this important work! 💙
*Not a current Simons Searchlight participant?

Learn how you can contribute to our study and be included in future reports: https://bit.ly/Why_Join_Simons_Searchlight

06/18/2026

Exciting news! The Simons Foundation Autism Research Initiative (SFARI) is funding 17 patient advocacy group (PAG) conferences in 2026 — and we’re proud to see so many of our Simons Searchlight partners included!

These gatherings are vital for bringing together families, researchers, and clinicians to accelerate progress in rare genetic neurodevelopmental conditions. 💡🧬

Learn more and see the full list of funded meetings: https://www.sfari.org/2026/06/15/sfari-to-fund-patient-advocacy-group-conferences-and-travel-awards-for-scientists/

06/16/2026

The laundry was piling up faster than answers. I was growing weary that my son's diagnosis seemed to have more letters in its name than published research papers.

I was Googling at midnight, 2am, 4am and reading research papers I barely understood. I had joined multiple online forums I never thought I'd need. I was calling specialists who weren't calling back, so I kept a spreadsheet so I wouldn't fall through the cracks in their emails.

Somewhere in the middle of all of it — my body made a decision my mind refused to.

I didn't have the energy to make the bed, but I never let my baby go. The baby's bedtime hugs became the approval I needed to quietly close my eyes. This was a marathon and I was sprinting through the first five miles.

It was the relentless pull of exhaustion, sleeping so close to the baby that I could feel his little heartbeat at night.

Eventually my body chose rest before my mind gave it permission.

That's what the second wave looks like; discernment in disguise. It's the subtle echo of a circadian rhythm, synchronizing with the baby's heartbeat. In wave two, it becomes an internal lullaby.

Our son's first birthday; it arrived somewhere between nearly four medical appointments a week — with some drives up to ...
06/15/2026

Our son's first birthday; it arrived somewhere between nearly four medical appointments a week — with some drives up to four hours round trip. I remember setting up the tables and the chairs and thinking... with my state of panic and disconnect, who would feel comfortable sharing the joy of a first birthday with a mom who had become a shell of herself? Fear and anxiety over an uncertain future consumed me.

The spoiler -- Every family we invited showed up, & the outpouring of love was unbelievable.

These same families are the same dear friends who, to this day continue to sit at our table for moments that call for a gathering. Sometimes we gather for celebration, and other times for respite and the solace that comes with a tight hug. This is what we modeled the Bear Den after — a table already set, surrounded by community. Come take a seat and stay as long as you'd like.

Welcome. 🐻🧡💚

06/12/2026

Nobody prepares you for the exhaustion of having to prove your child.

To the doctor who says "wait and see." To the specialist with a six-month wait list. To the insurance company that denied the therapy your child needs to walk. To the school that sees a behavior problem where you see a child desperately trying to communicate.

This photo was taken approximately 30 seconds before a doctor told me "the baby will grow out of it. We just need to wait and see what happens."

You become an expert in a disease most physicians have never heard of. You learn to read research papers. You show up to every appointment with documentation, because you've learned that being believed is not a given.

It costs something. Every single time.

But you're still here. Still showing up. Still fighting for the child who didn't ask for any of this — and who deserves every bit of it.

Weary. But standing. 🐻🧡💚

Hashtags:

06/12/2026

Nobody tells you that joy becomes a discipline.

That somewhere between the diagnosis and the research and the appointments and the advocacy — you have to decide to let it in. Every single day. On purpose.

It doesn't arrive automatically. It doesn't wait for the hard things to be over. It shows up in a slant of afternoon light through a window. In small hands turning slowly, like they hold something sacred.

That's where I find it. Right there.

Joy isn't the absence of hard. It's what you choose inside of it. 🐻🧡💚

06/12/2026

There's a version of this life where you spend every waking moment fighting for the future — the right diagnosis, the right specialist, the right school, the right outcome.

And then there's a moment on a staircase, golden hour, barefoot — where your child reaches for your hand and you realize: this is the only time you will ever get to see the world the way he does.

[Now is] the only time I will get to see the child-like magic in otherwise daily things the way that he does.

I'm learning to live there. In the now. In the reach. In the give-us-this-day.

Give us this day. 🐻🧡💚

Read the full Simons Searchlight interview: https://www.simonssearchlight.org/2026/02/24/leading-the-way-an-interview-with-jordana-koch/

06/12/2026

Don't focus so hard on giving your child a good life that you forget to give them a good day.

I said this to myself after a particularly heavy week — too many appointments, too many phone calls, too much planning for a future that isn't here yet. And I forgot to just be present.

Your child doesn't need a perfect tomorrow. They need you today.

— Jordana Koch, Founder

06/12/2026

If you've ever Googled a diagnosis at 2am and ended up more scared than when you started — this is for you. 🐻

If you've sat in a waiting room and realized the doctor across from you knows less about your child's condition than you do — this is for you.

If you've fought an insurance denial, translated a genetic report, coordinated six specialists, and still had to make dinner — this is for you.

If you've ever felt completely alone in a battle that nobody around you fully understands — you just found your people.

Rare disease caregivers don't get enough credit. We become researchers, advocates, case managers, and medical translators — usually overnight, usually without a manual.

This account exists to change that. To share what I've learned. To connect the dots between families, researchers, and resources that can actually move the needle.

You are not alone. You are not behind. You are exactly where you need to be.

Welcome to the bear den. Pull up a chair. 🧡💚

06/12/2026

We didn't just get a diagnosis. We got a calling. 🐻

I'm Jordana — an east coast mama who moved to Texas, built a life, and then got a phone call that changed everything.

My family lives with a rare chromosomal condition that affects fewer than 400 documented families worldwide. No roadmap. No specialist who's seen more than a handful of cases. No one to call at 2am when you're scared and overwhelmed and Googling things you can't pronounce.

By grace, my family came together to build that roadmap.

I founded the . I partnered with .health as a Change Agent to put AI-powered advocacy in the hands of every rare disease caregiver. And this November, I'm bringing the world's top KMT researchers to Houston for the first time — ever.

This account is where I share the real stuff. The wins. The walls. The work.

Welcome to the Bear Den. 🧡💚

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