Thank you for taking the time to be here.
We are here asking for your help. Our beautiful daughter, E, was born on February 27, 2021. She was nine days late, born after an emergency cesarean section. Traumatic, not as planned, but we both made it out alive. She was beautiful, and she was here. She was ours. We were ecstatic to welcome our firstborn home, the beginning of a new chapter in our life.
The first month was difficult for all of us. Little sleep, difficulty feeding, and E’s cries - nonstop, inconsolable. She is our first, and we knew no different. We were told she had silent reflux, given medication, and we waited. We waited for all the moments' first-time parents are promised: eye contact, first smiles, reaching for our faces, coos of excitement. But they didn’t come.
After many hospital appointments and visits to the Emergency Room, we received the devastating diagnosis of KCNC1 developmental and epileptic encephalopathy (DEE). How much of life will be taken away from her because of one little mistake in her KCNC1 gene? Our world turned upside down, our hearts shattered, our dreams and wishes for our baby girl disappeared before our eyes. The future we envisioned - gone.
KCNC1-DEE causes E to have involuntary eye movements, inability to process visual information her eyes send to her brain, low muscle tone inhibiting her ability to keep her head up and explore the world like other children her age, developmental delays, and cognitive impairment. She is at high risk for seizures and a movement disorder. At one year old, she cannot sit on her own, feed herself, play with toys, crawl, or keep her head up for extended periods. She is not pulling to stand or trying to take her first steps. She does not recognize our faces or respond to her environment. She has yet to say her first words or babble. Yet, she works so hard for every little thing she does daily; everything that other parents might take for granted, we praise.
We need your help to give E a chance for a brighter tomorrow, help her work less for basic skills, and live life on her terms, not the terms determined by one spelling mistake in her KCNC1 gene.
Life-altering gene therapies and drug treatments exist for several rare genetic disorders. We know the technology exists; we know there is a way to give these children a fighting chance for a brighter tomorrow; however, Big Pharma won’t invest in treatment for these ultra-rare conditions since there is no financial incentive to support their interest in helping our children. Therefore, it is up to us, the parents of children suffering from KCNC1, to come up with the funds to develop treatments to cure our babies. How can we sit back knowing other parents are doing this for their children and not try to do this for E?
Our goal is to raise 2 million dollars to support the development of a treatment for E, and all children affected by KCNC1-related disorders. We cannot wait for someone to do this for us while E struggles daily, falls further and further behind her peers, and develops uncontrollable seizures that will impact her quality of life.
1% of donations will support E in her much-needed therapies to help her reach her fullest potential.
We want to give our baby girl the world and free her from suffering, but we need your help to do this.
We thank you for your generous donation from the bottom of our hearts. Each dollar brings us closer to our goal of finding a treatment for E and all children impacted by KCNC1-related disorders.
Every dollar helps. Please donate what you can, but most importantly, please share our story on social media, share with your friends and family, and let’s get E her cure!