COLORADO SPRINGS, Colo. (KRDO) -- Rett Syndrome is a rare disorder with less than 1,000 new cases in the U.S. each year. It affects brain development, walking, and speaking. One Colorado Springs family is faced with many challenges after their daughter was diagnosed, but they have a unique opportunity within Children's Hospital Colorado.
"Hi my name is Maddy Cummins, I am 19 years old from Colorado Springs."
Maddy Cummins is someone who wants to be heard. "And I have Rett Syndrome," Maddy told KRDO. And Rett is debilitating.
"Rett Syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls," Maddy explained. "Rett causes severe impairments affecting nearly every aspect of life. The ability to speak, walk, eat, and even breathe easily."
But with this special eye-daze device, Maddy can get her point across.
"So this is unheard of for a girl to have this many buttons, usually there are just 10 but she is so good at navigating and she's been doing it for so long," said Maddy's home health nurse, Jenna Lisi, RN.
For the last few years, Maddy has been mastering the Tobii Dynavox. It's a speech-generating device and eye tracker to help people like Maddy, find their voice.
"She's got a lot to say on this page," said Maddy's mom, Amy Cummins. "It's an augmentative communication device and this one has different cameras throughout the device that track her eye and when she figures out what she would like to say she activates it with her eyes."
After loading up several buttons with information about who she is and what she likes or what she needs, Maddy can communicate by moving her eyes to certain squares on the tablet. It's not for everyone with Rett, and it has its challenges, but it has eliminated some of the guessing game between Maddy and her mom Amy.
"We do have our own language," says Amy. "But we are mind reading at the same time which has its challenges."
Maddy wasn't meeting developmental milestones after her first birthday. A few years later she was finally diagnosed with Rett Syndrome.
"They are just in an internal fight with their bodies," says Amy. "Nothing in their body works properly but they are so intelligent and they are trapped in their bodies and communication is extremely difficult."
And while it has been a hard journey to this point, the Cummins family always sees the good.
"Maddy has the best personality and such a positive, kind, patient outlook," says Amy. "Can you imagine not being able to express any of your wishes?"
That patience, in addition to a whole lot of resilience, has granted Maddy some pretty cool opportunities. Not only has she raised thousands of dollars for Rett Syndrome, but she also has a meaningful role within Children's Hospital Colorado.
"There's 25 other patient ambassadors," said Amy. "Maddy is the first with Rett Syndrome and we were pretty excited about that. She graduated high school at Air Academy High and this has been her new job and she takes it very seriously."
"Through this program, I raise funds, teach people about Rett, and advocate for all youth who need specialized care. I have enjoyed this work and hope to continue it in the future," said Maddy.
Maddy recently went to Washington D.C. to speak with Colorado Congressional members about continued funding for specialized pediatric care, training, and education.