Meet Emmy
A few days after our beautiful daughter was born, Emmy was taken to the NICU after experiencing seizures. After two weeks of life, we finally brought our girl home, and at three weeks we received Emmy’s diagnosis: a mutation of the KCNT1 gene with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS). While the prevalence of KCNT1 related epilepsy is still unknown, approximately 3,000 cases have been identified globally, making this an ultra-rare disorder with fewer than 20 cases per million people and even more rare for those individuals with EIMFS.
After spending her first three months of life in and out of hospitals, we started to understand more about Emmy’s condition and how to best cope with it. Her first months were characterized by seizures ranging anywhere from 10-50 daily, ongoing trial and error with various medications, and eventually finding some stability with the Ketogenic Diet. And while her seizures have stabilized, the combination of daily seizure activity and her genetic condition mean that Emmy has missed almost all developmental milestones. She is unable to roll over or sit up. She has limited movement of her limbs and she can’t yet smile or make eye contact. She requires around-the-clock care. As of now, there is no cure for her genetic condition and her seizures are resistant to medication.
But there is some hope. Emmy is currently part of a data gathering study and we have since learned about the possibility of clinical trials starting as early as this year; something we thought was far into the future! We also found the KCNT1 Epilepsy Foundation [kcnt1epilepsy.org] which was founded by parents and loved ones of KCNT1 Warriors who work hard to accelerate research and drug development efforts focused on finding a cure for KCNT1-related epilepsy. We hope this accelerated research will help our baby as well as other kids with this ultra-rare disease.
For now, our days are filled with love and snuggles, but also with counting seizures and comforting an upset, but growing baby. Emmy goes to physical therapy twice a week and has a team of neurologists, pediatricians, opthamologists, and gastroenterologist doctors working to make her life as enjoyable as possible. She is working hard to hold her head up and still eats from a bottle – both of which are huge accomplishments and something only a rare few of KCNT1 kids with EIMFS are able to do! But, we hope for more!! Treatment or possibly cures can only be found through research and donations. And while potential treatments and medicines may not help Emmy, our hope is that one day there will be a cure for this awful disorder.
With how newly discovered and rare this disease is, awareness for KCNT1 is incredibly limited, which means funds to support the possibility of clinical trials are, too. Donations are the one major limiting factor that will prevent clinical trials from happening. This being said, we are so grateful to anyone who may consider donating so that one day no family will have to suffer through this disease. And if you’re not in a position to donate, we completely understand — sharing our story is just as valuable and can help drive an equally positive impact to the KCNT1 community.
If you would like to donate, please go to: KCNT1 Slack Epilepsy Foundation [kcnt1epilepsy.org]. If your company matches charitable donations (like Georgia Power does), please request gift matching so your money can go even further!
I share this because, she is our girl and I want everyone to know all of her! I also share to raise awareness, grow the KCNT1 community, and accelerate efforts to stop this disease! Attached are photos of our beautiful girl from her initial time at the hospital (1 week), at 4 months, and at Christmas (8 months).
