Calcium Channels
The CACNA1A gene encodes the alpha-1A subunit of the CaV2.1 P/Q-type voltage-gated calcium channel, controlling neurotransmitter release in brain neurons.
Crucial for brain communication →
Archie’s Story & Journey
A fighter from the very beginning.
Archie
Warrior & InspirationOur sweet, resilient boy.
“We are trusting that God has a path forward, and we are fighting with everything we have to give our sweet, resilient boy the future he deserves.”
The Family
A Fighter From the Very Beginning
Our journey with Archie began on the day he was born. Following a delivery with no prior warning signs, the umbilical cord was found wrapped tightly around his neck twice, resulting in moderate Hypoxic-Ischemic Encephalopathy (HIE)—a severe lack of oxygen to the brain. Within his first few minutes of life, Archie began experiencing rapid movements in his arms and legs, prompting emergency transport to Cincinnati Children’s Hospital Medical Center.
For three critical days, Archie underwent therapeutic hypothermia (brain cooling) to prevent further injury. When he was warmed, an MRI showed remarkably promising results—an answered prayer that allowed our family to bring him home after nine days in the NICU.
3 Days of Brain Cooling
Therapeutic hypothermia in his first days of life, to prevent further injury.
Home After 9 Days
A remarkably promising MRI let us bring him home from the NICU.
Those early months were filled with watchful anxiety. While nothing major occurred initially, we noticed he was significantly weak and hypotonic with notable head lag, leading us to start physical therapy right away.
The Onset of Epilepsy
At five months old, our worst fears were realized when Archie suffered his first major tonic-clonic seizure, which required emergency intervention by paramedics, followed by a second seizure in the EMS vehicle on the way to the hospital. Diagnosed with epilepsy, we held onto hope that he would eventually outgrow it.
However, the seizures continued, accompanied by delayed developmental milestones. Around 15 months of age, Archie began experiencing unprovoked startle and jerk-like movements. Because standard EEGs could not register them, doctors suspected these myoclonic seizures were originating deep within the brain. After a harrowing nine-month period, we finally found a medication regimen that successfully brought these myoclonic seizures under control.
Despite these hurdles, Archie’s determination—and his family’s support—shone through. With the dedicated help of physical, speech, and occupational therapy, and nightly living room walking sessions guided by his big sisters, Archie reached a joyful milestone and learned to walk around 20 months of age.
Walking at 20 Months
A joyful milestone, reached with therapy and nightly living room walking sessions guided by his big sisters.
The Turning Point: CACNA1A A713T
In the fall of 2025, we noticed new, frightening symptoms: sporadic losses of coordination lasting one to five minutes a few times a month, accompanied by sudden falls where his reflexes failed to catch him.
On New Year’s Day 2026—just the day before his second birthday—Archie suddenly lost the ability to sit up or walk. Rushing him to the ER, we underwent an array of tests that offered no immediate answers until an emergency neurologist recommended comprehensive genetic testing.
After two excruciating weeks of waiting, the diagnosis arrived: Archie has a CACNA1A-related disorder, specifically the A713T variant. This is a de-novo mutation (meaning it was not inherited) and is one of the more severe variants. It caused him to suffer a debilitating 21-day ataxic episode during which he had to completely re-learn how to walk.
Living with the CACNA1A A713T variant presents a complex daily spectrum of neurological challenges. The primary symptoms and struggles we navigate include:
Medication-Resistant Epilepsy
Seizures that are exceptionally difficult to control with standard pharmaceutical treatments.
Episodic Ataxia
Sudden, unpredictable episodes of severe loss of coordination and balance.
Hypotonia & Global Developmental Delays
Persistent low muscle tone and significant delays in reaching developmental milestones, with speech being most profoundly impacted.
Nystagmus
Involuntary, rapid eye movements affecting visual focus.
Potential for Hemiplegic Migraines
A severe form of migraine that can cause temporary paralysis on one side of the body.
A Miracle Within Reach: Personalized ASO Treatment
When Cincinnati Children’s delivered the diagnosis, they shared the devastating news that there was no existing cure. However, because Archie’s specific variant is nano-rare (affecting fewer than 30 people worldwide), a specialized pathway opened up.
A pioneering organization called n-Lorem has the capability to create a personalized, custom Antisense Oligonucleotide (ASO) targeted treatment designed specifically to quiet Archie’s mutation and reduce his symptoms.
While n-Lorem generously covers the cost of manufacturing the medication itself, insurance does not cover the process because it is classified as research. Consequently, hospital administration and clinical care costs fall entirely on our family—estimated at $300,000 to $500,000 in the first year, and $50,000 to $100,000 annually thereafter.
$300,000 to $500,000
Estimated hospital administration and clinical care costs in the first year.
$50,000 to $100,000
Estimated costs each year after that.
Why We Need Your Help
When we first learned of these numbers, our hearts broke knowing we could never meet this financial burden on our own. But we also know that our son’s life is priceless, and there is extraordinary power in community and prayer.
We are trusting that God has a path forward, and we are fighting with everything we have to give our sweet, resilient boy the future he deserves. Every contribution, share, and prayer brings Archie one step closer to the treatment that can save his life.
Thank you from the bottom of our hearts for walking this journey with us.