Jessie's Gear

11/17/2025

Today is world prematurity day. My two youngest girls, Jess and Jordie, were both born 5 weeks early and only 11 months apart. That makes them Irish Twins also.

11/13/2025

Neurogene is focused on developing life-changing genetic medicines for patients & families affected by rare, devastating neurological diseases.

11/11/2025

11/10/2025

Christmas is fast approaching. Get your order in for our g-tube/button buddy Christmas advent calendars now. You can order by DM or by messaging on our page

Each kit contains 12 different christmas themed g-tube/button buddies. Perfect for our kiddos who are hard to shop for. 30$ each. Pick up in Flatrock before December 5th or meet up in St. John's before December 12th.

11/10/2025

💜 Rett Syndrome Parents Be Like...

I can do this.
Wake up every day and handle it—no matter what the night before looked like.

Doctor appointments, therapy sessions, seizure meds, feeding schedules, wheelchair transfers, communication devices that need charging, endless paperwork, insurance calls, and fighting for services that should already exist.

Cleaning the house between episodes.
Working, cooking, loving, praying, hoping.
Trying not to compare progress or milestones—just focusing on what’s real today.

We learn to read silence, decode stares, and celebrate every tiny victory.
We wipe tears, both theirs and ours.
We advocate like warriors and love like it’s our last breath.

And some of us do it as single parents, caregivers, veterans, or families spread thin—but still, we show up.
We keep going.

Because giving up was never an option.
Our children are teaching the world how strong love really is.

So yes — we’re tired, but we’re proud.
We’re the quiet heroes behind every giggle, every calm breath, every ounce of hope that Rett Syndrome couldn’t take.

To every Rett parent, every caregiver — you’re doing incredible. 💜

11/09/2025

💜 Rett Syndrome Gene Therapy Update — NGN-401 & the Embolden™ Trial 💜

“Hope is not pretending that everything is fine — it’s believing something better is coming.”

🧬 A New Step Forward for Rett Families

Neurogene has officially dosed the first participant in Embolden™, the registrational (pivotal) trial of its gene therapy NGN-401 — marking the most advanced attempt yet to correct Rett Syndrome at its source.

This trial isn’t just another study. It’s the step that could one day lead to FDA approval if results hold true.

🌿 What NGN-401 Is

NGN-401 is a one-time AAV9 gene therapy designed to deliver a safe, regulated copy of the MECP2 gene — the gene that causes Rett Syndrome when mutated.

It’s administered directly into the brain via intracerebroventricular (ICV) infusion — chosen for its ability to reach key brain areas more effectively than spinal delivery.

It uses Neurogene’s EXACT™ regulation platform to maintain a healthy level of MECP2 expression — enough to restore function, not enough to harm.

🧠 What Earlier Results Showed

From the initial Phase 1/2 studies at the same dose now used in Embolden (1×10¹⁵ vg):

The first four girls treated were each rated “much improved” on the Rett-specific Clinical Global Impression-Improvement scale.

They achieved 23 new developmental skills — in hand use, communication, walking, and fine-motor control — areas that rarely change after age 3.

Parents reported 28–52% improvement in Rett symptoms using standardized scales.

At this dose, side effects were all mild (Grade 1) — a strong safety signal in the gene-therapy world.

⚠️ What Was Learned the Hard Way

In 2024, one participant at a higher dose (3×10¹⁵ vg) experienced a serious systemic inflammatory reaction with liver toxicity — a known risk of high-dose AAV therapy.
That tragedy reshaped the field:

Neurogene permanently discontinued the high dose.

The FDA reviewed all safety data and approved continuation only at the lower 1×10¹⁵ vg dose — the dose that produced meaningful gains without major toxicity.

🧩 Inside the Embolden™ Trial

Design: single-arm, open-label, baseline-controlled (each girl is her own control).

Participants: about 20 females aged ≥ 3 years with classic Rett Syndrome.

Goal: determine if a single infusion can deliver clear, measurable functional improvement.

Primary success measure:
1️⃣ Clinician-rated “improved” status on the CGI-I scale, and
2️⃣ At least one new developmental milestone (from 28 defined skills) within 12 months — verified by centralized video review.

Timeline: U.S. enrollment is underway at 13 Rett centers, expected to complete within 3–6 months (as of Nov 2025).

🏛️ Regulatory Momentum

The FDA has formally agreed on the trial design and endpoints.

NGN-401 holds Regenerative Medicine Advanced Therapy (RMAT) designation and participates in the FDA START rare-disease program, streamlining oversight.

Neurogene reports funding stability into 2028, ensuring completion and potential submission if results succeed.

💜 Why This Matters

For families like ours — and for girls like Alex, who live with rare MECP2 variants — this therapy represents something the world has never had:
a one-time treatment aimed at the genetic core of Rett Syndrome.

It’s still early. Long-term safety, durability, and mutation-specific responses remain unknown.
But for the first time, real developmental progress is being recorded in girls once told their skills would only decline.

That’s not just science — that’s hope becoming visible.

📖 Learn More ➡️ Neurogene official update: Neurogene Newsroom

➡️ Rett Syndrome Research Trust & IRSF community letters: rettsyndrome.org

11/07/2025

💜 Rett Syndrome & MECP2 Duplication — Two Sides of the Same Gene 💜

Even though it’s not Rett Syndrome Awareness Month, every month is awareness month when you live it.
So let’s talk about something that often confuses people — how Rett Syndrome and MECP2 Duplication Syndrome are connected, yet completely different.

Both disorders come from the same gene — MECP2, found on the X chromosome — but what happens inside that gene determines the path each family walks.

🧬 The Rett Syndrome Side — When MECP2 Is Missing or Misfiring

In Rett Syndrome, a loss-of-function mutation in the MECP2 gene means the protein either doesn’t work as it should, or it’s missing altogether.
Without this protein doing its job, the brain struggles to regulate the many genes that rely on it for timing, communication, and balance.

That’s why Rett can affect almost every system of the body — breathing, movement, digestion, sleep, and communication.

💜 It’s seen mostly in girls, because boys with the same mutation often don’t survive infancy unless mosaic or Klinefelter (XXY).

It’s not a degenerative disease — the brain doesn’t die off — it’s a disorder of arrested development. The wiring is there, but the signal can’t always get through.

🔁 The Duplication Side — When MECP2 Is Too Active

Now imagine the opposite problem: too much MECP2.
That’s MECP2 Duplication Syndrome, where extra copies of the gene create too much of the protein.
Instead of underactivation, the system becomes overloaded.

This condition appears most often in boys and can cause:

Low muscle tone and developmental delay

Seizures and frequent infections

Motor and cognitive challenges

Speech and communication difficulties

Some girls can be affected too, depending on how their X chromosomes activate or silence.

⚖️ Two Different Paths — One Common Thread

What’s fascinating is how these two disorders mirror each other — one from too little MECP2, one from too much.
Both affect how the brain develops, communicates, and maintains balance.
Both lead to complex medical and neurological challenges — and both are teaching the scientific community how vital MECP2 is to human life.

When researchers study one, they learn about the other.
They’re discovering that the key to treating either isn’t just adding or taking away — it’s balance.
Restoring MECP2 function to that delicate, God-designed level where the brain can find peace again.

🔬 Why It Matters — Hope in the Details

Every discovery about MECP2 — whether it comes from Rett Syndrome or MECP2 Duplication research — moves us all forward.
Because the more we understand how this one gene works, the closer we get to therapies that bring real, lasting change.

And that’s why awareness matters every day.
Because our daughters and sons living with these rare conditions deserve a world that sees them not as broken — but as the reason we fight for better science, better care, and better hope.

💜 The same gene that caused their struggle might one day hold the key to their healing. 💜

❤️🤹‍♀️

10/31/2025

Elliot and E.T. had a great time trick or treating at the Janeway children's hospital.

10/31/2025

Happy Halloween 🎃

10/30/2025

🌟 Join Us in Spreading Rett Syndrome Awareness with our "I CAN" campaign! 🌟

📢 How You Can Help:
✔️ Share this message
✔️ Highlight the abilities of someone you know with Rett syndrome
✔️ Use to spread the word

10/30/2025

Our Fire Fighter community showing their support for Jess and persons living with Rett Syndrome. 💜

# # #