MERIDIAN, Idaho — Emma Case is only three years old, but she is already raising awareness for a rare genetic disorder. Her parents are sharing her story in hopes of finding a cure.
Emma was born in 2016 and welcomed with love by her parents and two big brothers. She seemed to be a healthy baby - until she was about eight months old. Her parents noticed something wasn't quite right. Months passed, Emma couldn't walk or talk.
Megan and Drew Case weren't sure what it could be, local doctors weren’t sure either, so they went online for more information about Emma's symptoms.
"We did what we were told not to do and googled her traits and her symptoms and that was the first time we heard anything about Rett Syndrome," Megan said. "At that point, we knew we needed to seek out genetic testing."
"I don't think anyone was thinking it could be what she was diagnosed with," Drew said.
But, Emma's parents were right, she was diagnosed with Rett Syndrome. The disorder only takes place in girls and affects the X chromosome.
"It takes on traits that look a lot like cerebral palsy, autism, epilepsy, anxiety disorder, so it often goes misdiagnosed," Megan said. "It affects every part of her life every day, she can't currently walk or talk and the likelihood is she won't be able to do those things in her lifetime."
Soon after finding out the diagnosis, Megan and Drew had to break the news to their two sons.
"I remember the night we got the diagnosis," Megan said. "That was really hard to tell them and we were both crying at the table, and my son came to me and said Momma it's okay that Emma can't walk, I will bring her all her toys. They have just been by her side and they know that she does things differently."
Now, Emma is three and Megan and Drew have started sharing her story with the world, educating their friends and family about what the disorder is.
"We decided to start a facebook page so people could see the good and the bad of Rett Syndrome. It's called Emma's Village," she said. "We can all come together and support not only Emma but the other girls in our community, in the nation and in the world."
A few months ago, the Case family traveled to Denver for the Rett Clinic there.
"Luckily we were able to make it over and meet with them, they were able to give us a lot of great information that was very specific for Emma," Megan said. "Part of that is that they evaluate her for these clinical trials."
"We want Emma to be cured and right now there is no cure for Rett Syndrome, it is a lifelong diagnosis," Megan said. "But the scientists and the researchers with the Rett Syndrome Research Trust think they are in three years of finding a genetic cure."
Drew and Megan are doing what they can to help research efforts to find a cure with a fundraising event in September. The event, Reverse Rett Boise, will share Emma's story. The family is also praying for a cure.
"We want Emma to know that she is loved and a wanted part of this family, and she contributes things no one else could," Megan said.
Emma may not know it yet, but she is spreading so much awareness about Rett Syndrome. She is already making a difference for other little girls just like her.
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