Hello everyone,

Meet Erin. She is a bright, beautiful, adventurous, strong, and a little bit crazy girl born on March 7, 2025. For the first thirteen months of her life, she was healthy and the happiest baby you'd ever meet.

In April of 2026, Erin began having an eye flutter—nothing crazy at first. It looked as if she had gotten an eyelash or a piece of dirt stuck in her eye. It lasted no more than five seconds, and she never missed a beat of what she was doing. But on May 7th, everything changed.

The five-second flutter didn't stop. Her face started turning red, a tiny bit of saliva peaked between her lips, and then she suddenly dropped. What felt like forever was only thirty seconds. We rushed her to Mercy Children's Hospital, where they did blood work and a CT scan. Everything came back clear, and we were released with a diagnosis of "seizure-like activity" and a referral to neurology.

Something didn't feel right. The next day, we brought her to Cox South. Upon arriving at the Emergency Department, we were immediately admitted. During her stay, Erin underwent a 1-hour EEG, a 24-hour EEG, and a 1-hour MRI with and without contrast. She was diagnosed with both absence and focal seizures. Because she was having around 30 episodes a day, we immediately started medication. We saw a decrease in her seizures and were discharged for outpatient treatment, feeling like we were on the right track.

Unfortunately, the medication only worked for so long (which we learned can be normal as you try to find the right drug and dosage). With no luck on the first medication, we added a second. For about two weeks, it helped; we were only seeing nocturnal seizures and averaging nine a day. But then, her nocturnal seizures started clustering, and the daytime, conscious episodes returned.

Due to the frequency of the seizures and the medications failing, we were given a new diagnosis: Refractory Epilepsy (drug-resistant epilepsy).

With no answers and very little progress, Erin, her father, and I all did genetic swab testing. While waiting for the results, Erin's seizures increased in both severity and frequency. We were averaging thirteen a day. We tried two more medications. Four. Four medications, and her seizures still weren't stopping. Today, we are averaging fifteen seizures a day.

Then came the day we got the results. Instead of a standard portal notification, our neurologist called to open them with me over the phone.

Then, the words no parent ever wants to hear were spoken: "Your daughter has a gene mutation and a code deletion."

We finally had the answer to why she was having seizures, but it came with a rare mutation, an even rarer deletion, and a heavy new diagnosis:

• Diagnosis: Familial Focal Epilepsy with Variable Foci 3

• Gene/Variation:NPRL3: c.1032del, p.Y345fs*68

When I searched for how many cases of this specific gene variation exist, this is what I found:

"The specific NPRL3 c.1032del (p.Tyr345fs*68) variant is an exceedingly rare, ultra-private mutation with no heavily documented cohort history in open public medical literature."

Exactly what every parent wants to read about their child’s diagnosis, right?

This means Erin’s epilepsy journey is just beginning. We have been referred to WashU in St. Louis, a Level 4 Epilepsy Center. It is a five-hour drive from home—a massive journey for anyone, let alone for a sick baby and her two older siblings, who refuse to leave their baby sister's side through all of this.

How you can help:

We are asking for your help to take the financial burden off of our family as we fight for Erin. Your donations will go directly toward:

• Gas and travel expenses for the 5-hour drive to and from medical appointments

• Hotel stays and lodging near the specialist hospital

• Food while we are away from home

• Any unexpected medical costs and copays not covered by insurance

• Bills from potentially missed work

If you are unable to donate, please consider sharing Erin's story. We are incredibly grateful for every prayer, share, and dollar during the hardest fight of our lives.

Thank you from the bottom of our hearts,

Elijah, Sarie, Elemira, Hank and Erin.