Dear family and friends,

Thank you for continuing to walk with us along this road. We’ve just cleared our last preliminary diagnosis hurdle with a visit to Nationwide, and we have so much to be grateful for. We love hearing from you all and would love to know what’s going well in your world and how we can pray.

A quick trip to Columbus, Ohio

On Monday, September 23, Stephen and I took Emma to meet Dr. de los Reyes at Nationwide Children’s Hospital in Columbus, Ohio. She’s widely known as the global expert on Batten disease diagnosis and treatment. She sees many patients from all over the world (affectionately known as “Dr. Emily” to the Batten community).

It was a very quick trip but worthwhile and encouraging. She called me personally even before we met Dr. Keller, our CHOA neurologist, and assured me that she was already in touch with our entire team at CHOA, we were in the best hands, and we could come see her at any point if we chose to. As the dust began to settle around Emma’s port placement and infusion schedule, we decided it was time to make the trip.

Dr Emily’s entire team of therapists, her psychologist, and her social worker spent 3 hours with us evaluating Emma and offering their recommendations on her care going forward.

While there wasn’t anything groundbreaking to uncover at this point, they were very encouraged by how well she’s doing and all the resources that are coming together for her therapy and in our community.

Dr Emily offered some insight into which seizures we should continue to medicate for and which are non-threatening. Em is still having 25-50 very tiny episodes daily, but we’re hopeful that enzymes will clear these up as she continues to stabilize.

We also enrolled in an ongoing psychological study of CLN2 patients; we hope Emma’s life can be a blessing to the research that’s being done and mitigate the devastating effects of this disease in years to come.

My biggest takeaway from the visit was a shift in my mindset about Emma’s abilities. It became much more clear just how bravely Emma has been fighting to gain every skill she has. While it’s most natural to compare her slow development to James and Annie and to grieve what she lacks (and all she will never gain), the reality is that her brain was never equipped to dispose of toxins until her first infusion of synthetic enzymes on July 3, 2024. For every single day of her life, her brain has suffered the effects of mounting waste, and she has continued to move, walk, run, and talk while facing a silent, invisible, uphill battle in her brain. Batten Disease did not begin in the spring with her first seizure; it has been with her all along. There is plenty ahead to be lost and to grieve, but for these precious days, we’re choosing to celebrate all the vitality and determination she has. Praise God for days with our wiggly, giggly girl!

Sleep is improving!

Just a quick note to say THANK YOU for praying that we would sleep! Emma started on sleep meds in the middle of August and her body seems to finally be adjusting to them! We’ve had our first full nights of sleep (10ish hours alone in her bed) for the first time in 6 months this last week. We are so grateful!!!

Fall family updates in photo form 📸

A reflection on mourning and comfort…

One of the first lines of Jesus’ first sermon lands upside-down applicable to the season we find ourselves beginning. Both Stephen and I are turning this promise over in our hearts and to each other on a regular basis.

A promise like this could not possibly be what bumper sticker designers had in mind when they printed those “#blessed” tags for minivans. Christianity that depicts God as a sovereign who stamps approval on nice things for nice people grinds against the realities of suffering and pain that each of us inevitably faces.

The real Jesus issues a deeper blessing, a promise of wholeness and peace and real joy, not to the ones who have it all together, but to the ones who are living with the reality that all is broken. If you, like us, are waking up each day, struggling to put one foot in front of the other, heavy with the weight of a life and a world you cannot possibly fix, we find in this promise that we are exactly where we need to be to find true comfort and healing. Contrary to human nature’s repulsion and what we therefore assume about a deity, the God of the Bible is drawn to those who suffer, who are isolated, who are sickly and fragile and sad all the time. His is a heart of compassion we can only truly fathom when we look at the cross — where He slaughtered His own Son for the healing of the world.

The comfort we need and are finding in Jesus is more than a therapeutic bandaid for the grief we’re living with. This comfort is the living, breathing, healing presence of God Himself. He runs to our tears, He saves each in His bottle (Psalm 56:8), and He has promised with His blood both to stay next to us always and to wipe all those tears away in the end.

There are still days when I’m on the actual floor with this pain, times I cannot look at Emma without a devastating bewilderment over the reality of her prognosis, and conversations with Jesus about why we have to carry this when it all feels just so heavy.

But there is also comfort. He is near.

And I wish I had better words to wrap around that truth, but I’ll finish with a simple blessing — may you find in your own mourning the ever-approaching comfort of Jesus. He is coming to you in love even, and especially, in this pain.

Prayer Requests

• That sleep would continue to stabilize. Praise God that it’s begun!

• For coordinating therapies as Emma’s schedule begins to fill up.

• For future partnerships for Charityvest that will have day-to-day impact on Stephen’s life margin.

• For 2 new children beginning enzyme therapy at CHOA; we have not met them yet, and our infusion schedules may never sync up, but please join us in praying for these 2 new families who are beginning to navigate the CLN2 road as well.

• Our sweet friend, Millie, a CLN1 patient living here in Columbus. Her form of Batten disease is even more aggressive than Emma’s, and her days are very hard right now. Please intercede for Millie and her family whenever you think of Emma.

We’re SO grateful for…

• An incredible start to the school year for Annie and James.

• Secondary insurance approval that significantly lifts the financial load of our journey.

• The remarkable community carrying us in so many ways on a daily basis.

Resources we’re loving…

• Song: So Much Better by Gracie Binion & Legacy Nashville

• Song: Watch and Pray by Rachel Blackmon

• Devotional Reading: Morning of October 2nd, by Charles Spurgeon

Thank you all so much for your continued love, prayers, encouragement, and support. “It takes a village” has never been more true in our lives, and we are daily astounded by the strength of ours.

As Stephen often says, all our worldly wealth is found in our relationships.

Thank you for being such a treasure to us. “You are Jesus with skin on,” as my childhood pastor, “Pastor Keith,” would say.

We love you so much.

For His glory,

Katie