Family Update || May 30

Precious friends and family,

Thank you so much for your prayers and support for our family in this confounding season we find ourselves in.

The most important thing to share is that our Rock holds fast. He is holding us. We believe he will make both goodness and glory out of this storyline of suffering.

There’s much that is still in flight with our family and Emma’s care, and our ability to explain has been spotty at the outset, so we’ll use this initial note to share an overview of Emma’s diagnosis and prognosis (if you’re inclined to more details, here’s my personal record of the significant events of her road to diagnosis).

After a series of significant seizures led to extensive testing throughout the months of March and April, we sat with our new pediatric neurologist and her genetic counselor at Children's Healthcare of Atlanta (CHOA) on May 3rd and received final confirmation that Emma has an extremely rare neurodegenerative genetic disease called Late Infantile Neuronal Ceroid Lipofuscinosis (also known as, CLN2 Batten Disease). CLN2 explains not only Emma's seizures, but her significant developmental delays in speech and gross motor skills.

The prognosis for such a diagnosis is bleak; there is no cure. Emma's brain does not produce an enzyme necessary for clearing toxins from her brain cells, and this will lead to neurological degeneration. Her MRI shows brain volume loss already, and this will only worsen until the end of her abbreviated life. Seizures will continue, and she will steadily lose her independence as her motor skills, speech, and vision decline over the years ahead.

However, this particular form of Batten Disease does have a treatment to slow the progression. Emma will have a port placed in her brain in the next month so she can receive enzyme replacement infusions every 14 days for the remainder of her life. This treatment has been shown to materially slow the decline of motor skills (and, in some cases, keep seizures at bay). We are hopeful that Emma might thrive a while longer once she begins. She is still making small but steady gains on her own in speech and motor skills, and we hope these infusions, plus the beginning of PT/OT/ST will help preserve her quality of life.

James (8.5) and Annie (nearly 6) are handling all of this with tender resilience. They are graced with family and friends who see them and care for them well, and they each have a new counselor who is walking with them through these big feelings. We've withheld some of the hardest details of all that Emma's decline will entail, but they know she'll slowly lose her ability to walk and talk, and that she will go to heaven before she grows up.

I'm certain we will have more words to share and process as the weeks, months, and years unfold, but for now we’ll rest here: 

1. We have never been so grateful for a God who is so heartbroken and angry at the devastation on earth that He would sacrifice His own Child to make it right. 

2. We have never leaned so directly on the hope of the resurrection. Emma will be healed.

What can you do for us?

Will you pray and worship with us? Our church is planning a special night of prayer and worship (date forthcoming), and we would love to invite this group of family and friends to join us, whether in person here in Columbus or online.

What’s next?

In our next update, we’ll share more definitive details about Emma’s forthcoming medical steps when they are more clear.

Resources that have encouraged us — we would love your recommendations

• Katie’s playlist

• Blog post by Fred Smith: An Interrupted Life

• A Poem by Annie Johnson Flint: One Day at a Time

• Tim Keller’s sermon series on the book of Job

• Book by Dane Ortlund: Gentle and Lowly: The Heart of Christ for Sinners and Sufferers

Prayer requests

• Emma’s anti-seizure meds are causing her to be extremely irritable and disrupting her sleep, a vicious cycle. Please pray this improves as we slowly transition to other meds.

• Speedy hospital and insurance approvals for enzyme treatments.

• For each of our kids to experience the love of Jesus in these initial months of upheaval.

• For peaceable timing for Emma’s surgery, first infusion, and any interrupted hopes and dreams for the summer.

• Grace to enjoy the goodness and mercy of God each day.

We’re thankful for…

• YOU and so many who are both interceding for us and providing practical help with childcare, meals, cleaning…we are being carried.

• The speed with which Emma was diagnosed; many children suffer much longer and decline much further before genetic testing reveals the disease.

• CHOA has already been treating a CLN2 case for most of a decade and is fully equipped for this enzyme replacement therapy.

• A new classical Christian school is opening here in the fall, and James and Annie are (mostly) excited to be enrolled. We will grieve this exit from homeschooling (at least for now), but we’re grateful for this opportunity.

• Securing spots for Emma in all the therapies she needs.

We love you all very much and welcome your questions, calls, texts, and encouragement. We’re not able to respond every time, but your outreach always ministers to us.

“The Lord gave, and the Lord has taken away. Blessed be the name of the Lord.” Job 1:21

Love and gratitude,
Stephen & Katie