MOREHEAD, Ky. (LEX 18) — Emilia "Emi" Joseph loves looking through books, catching bubbles, and spending time with her mother, Kelsey Joseph. But when Emi was a newborn, her mother noticed something wasn't adding up.
"I think she was 3 months old when we first started noticing her head growth wasn't progressing," Joseph said.
Joseph took Emi to get checked out, but answers didn't naturally come. Two years later, after several tests, doctors were able to give a proper diagnosis.
"I didn't know what CASK was until it affected my home," Joseph said.
Emi was diagnosed with a rare genetic disorder related to the CASK gene. It's a neurological disease that affects the gene responsible for brain development and function. Symptoms can include developmental delays, disabilities, and seizures.
The revelation caused Joseph a lot of stress. With limited medical information and not knowing what's next, she felt stressed. So she went online and scrolled through Facebook, finding several CASK support groups. One led her to a nonprofit called Project CASK.
"Our Facebook group is a lifeline, but it's also where you can get the best information about the disorder is from other parents right now," said Hitomi Kubo, Project CASK co-founder.
Kubo is also a parent of a child who has the disorder and can relate to families and the struggles that they will face.
"Every time we have a new parent come in the group, I feel that feeling I had when I heard my daughter's diagnosis — just the utter fear, terror, and uncertainty," Kubo said.
Project CASK is parent-led, with each one telling their story while trying to bring awareness to the disorder. With limited resources, Project CASK hosts fundraisers that will go toward research and treatments. The members want to provide relief and hope.
"At least I feel like I can tell them that treatment isn't tomorrow, but there are things happening. Treatment is possible and we're doing something about it," Kubo said.
With each day, Emi is growing and new challenges may arise. Joseph hopes that with the help of Project CASK, Emi will have a bright future.
"It's so often that people see them just as kids forever. I want the world to get ready for her as an adult, and get ready for all the kids as adults. Because that's what Project CASK is working towards: making it so they can have happier, longer, independent lives. I think that's all we want for our kids," Joseph said.
Project Cask is looking for volunteers to help with its cause. For more information, visit Project CASK | Cask Gene Disorder | Innovative Rare Disease Non Profit.
