Happy Fall, everyone! 🍂

We hope you’ve been able to savor the season before it slips away too quickly! Time has certainly sped along since we last shared.

Thank you for coming along with us season after season.

The Emma Fund update: $40K raised!

We are astounded by the generosity of our community. The Emma Fund raised over $40,000 to support families of kids affected by rare disease and help fund promising rare disease gene therapies.

So many rare disease families host 5K’s and bake sales and hope to raise a few thousand dollars toward research and relief—we didn’t have to do that. You all, in your compassion, responded to a very simple ask and BLEW US AWAY! Thank you, thank you, thank you!

The Emma Fund has already granted to the Batten Disease Research & Support Association (BDRSA) and made an impact investment into Kylix Bio, a biotechnology company that develops gene replacement therapies for rare, terminal neuromuscular conditions that would otherwise be uncommercializable and have no path forward. Kylix Bio is a part of Praxis, an entrepreneurship community that has had a profound impact on Stephen and Charityvest. You can read more about Kylix Bio and its founder, Catherine, here. Catherine herself is a rare disease parent. We’re proud to partner with you all and support their work.

We moved this summer!

Slowly, but surely, we are settling into our new home in Tyrone, GA.

As long as we searched Zillow for a floor plan that would accommodate Emma’s long-term sleep and mobility needs, we only ever found one house that would work without a major transformation, and that’s where we live now.

Our new house has brought major change laced with a lot of goodness for each of us:

• 3-minute drive from our church’s Sunday meeting location — it’s a small but mighty church plant in Tyrone

• Walking distance to friends at our new church

• 35 minutes from The Arthur Blank CHOA Hospital on early infusion mornings

• A short Uber to the airport for Stephen’s work travel

• 15-30 minutes away from my side of the family and one of Stephen’s sisters

• A new school in Peachtree City for James & Annie

• And only 70 minutes back to Columbus when needed

We do miss our family and community in Columbus deeply. No one will ever replace the ones who held us up physically, emotionally, practically, spiritually, through our diagnosis season. That fact has only been reinforced as we enter new friendships and we aren’t yet fully “known” by many in Tyrone. To those who lived that part of our story with us, thank you. You will always feature as a testimony to God’s kindness in our lives.

How is Emma?

While she continues to fall further behind developmental milestones for a healthy child, Emma continues to thrive by relative measures. Our hearts are grateful for the many smiles, giggles, and absence of major seizure activity.

Her new therapy visits in Newnan/Sharpsburg are going well—her new practice sees her twice each week for Physical, Occupational, and Speech/Feeding. We are treating these appointments, spread across four mornings each week, as her personalized “Kindergarten” routine.

I write this update from the AFLAC infusion floor at the Arthur Blank Hospital as she has just completed her 7th eye injection and has 45 minutes left of her 60th Brineura infusion. We are so thankful for these treatments that are sustaining her life and faculties.

Emma is loving the cooler weather. She drags James and Annie to the trampoline almost daily and loves zooming around the driveway in her new foot-powered “Cozy Truck!”

We also recently started our own little ballet class in the basement with four other little girls from our church; it’s been such a life-giving endeavor for both of us!

We may be starting to see some decline in her comfort with feeding…or she might just be a normal 5-year-old…but we are praying for her to continue to eat a wide variety of foods for a long time to come. We are also recognizing the extent to which some of her sleep struggles are simply bad habits in this season, so please pray for wisdom and course-correction.

What’s next?

At some point before 2028, we expect Emma will need to have a feeding tube placed. Every CLN2 family I’ve talked to has encouraged us to pursue this intervention before we need it. Adaptation and recovery seem exponentially easier if she undergoes the procedure in a healthy state before we hit significant nutritional deficits. The timing for such a decision needs wisdom. We aim for Emma to eat as much and as often as she wants from the table for as long as she can, but we believe it will be advantageous to supplement sooner than required.

CLN2 is also at the forefront of two significant research initiatives, and we would love your prayers toward the success of both!

First, a biotechnology company called Latus Bio is developing a gene therapy that could fundamentally change how children like Emma are treated. Rather than replacing the enzyme her body cannot produce every two weeks, this treatment aims to give cells in her brain the genetic instructions to produce that enzyme themselves. Early research has been encouraging, and the FDA has cleared the treatment to begin human clinical trials. There are still many unknowns, but the possibility of a longer-lasting treatment that could slow or even stop disease progression gives us tremendous hope. It’s designed to be a one-time treatment as well.

Another remarkable effort is being led by the family of a little girl named Helen, who also has CLN2 Batten disease. Through Helen’s Pink Sky Foundation, her parents have helped advance an experimental treatment using Helen’s own immune cells, genetically modified to produce the missing enzyme. Her cells have now been collected, and researchers are preparing them for what could be the first treatment of its kind in a human patient. We are deeply grateful for families like Helen’s who are pouring their resources, energy, and love into research that could benefit so many children. Neither of these treatments is a cure yet, but we are encouraged by the work God is doing through brilliant scientists and devoted families who refuse to give up hope.

Reflection: On being hospital “regulars”

Emma tromps into the hospital lobby, waves at security, and loudly announces, “I back!”

She knows exactly who has stickers at which registration desk and looks forward to pushing elevator buttons and eating bacon at our breakfast stop in the cafeteria.

The ladies who see every patient who enters the hospital, day in and day out, know our names and recognize us as one of the frequent fliers.

Well-meaning technicians tell me some standard healthcare protocol information, and I just smile “thanks” as they share notes that do not pertain to Emma’s circumstances at all.

The nurses who know us don’t even bother to print discharge papers; we are saving trees with our MyChart expertise.

And I know to buy the coffee on the second floor and doctor it with the free creamer on the first floor and use this door to that garden and walk around like I’m at home.

In a hospital. For children.

For two years we’ve taken up residence in these halls for the hurting and broken. It never fails to astound me as I pull onto the property — not one person who walks through the doors wants to be here. No parent wants to darken these doors. Not once. I know because I was one who never came here, never thought to, never knew what a gift it is to pretend it doesn’t even need to be here for me.

And now we make a home here.

I feel it in my chest — an ache that tumbles and flutters, that squeezes and reaches and finds hope. Even in the worst of places, there is a beauty in being seen and known. There is an invitation to place my own hand into the wounds of Christ and make a home in the brokenness that makes me whole.

These halls will need a different purpose when the old is made New in Christ’s New Heavens and New Earth. Until then, we invite the blood of Jesus to cover it all — to cover each precious little bearer of the Image of Christ within and all their aching parents. We gratefully walk the unwanted halls, inviting the Healer to make His home here too. And soon.

Life lately in photos

Prayer requests

• For gracious habit training as we try to help Emma sleep better.

• For the supernatural acceleration of research and results for all rare diseases.

• For wisdom in timing Emma’s GI tube placement, likely in 2027.

• For increasingly deep connection in Tyrone for each of us.

• For extended family walking through big changes, near and far.

As always, thank you for walking with us. We would love to hear from you and yours.

Big love and deep gratitude,
Katie