Young girl with rare mutation continues to surpass doctor’s expectations
UPPER PENINSULA — A little over a year ago, we brought you the story of a young girl born two months premature with a genetic disorder.
This girl was told by doctors she would not make it to her first birthday. Tonight, we have the story on this strong girl who is proving those doctors wrong and is continuing to amaze the people around her.
Shortly after being born, doctors told Maddie’s Mom that her daughter would have no quality of life.
“They figured that should we never be able to see, hear, eat without a feeding tube, breathe without a tracheal tube. We faced the ethics committee who thought that it might be best to pull her tracheal tube and let her go. I decided since she wasn’t suffering and was doing good, that we weren’t going to do that,” said Maddie’s Mom, Patsy Rady.
Two and a half years later, Maddie is defying the odds and proving these doctors wrong.
“She really likes to dance, dancing and music are her favorite things in the world. Even if she just hears someone humming or anything that can remotely resemble music, she’ll start dancing, it’s pretty cute,” said Rady.
Maddie was born with Agnathia-Otocephaly Complex, a rare genetic mutation along with a heart condition. This mutation causes different abnormalities such as malformations of the mandible, mouth, tongue, and even ears.
“Abnormalities in the face and with her, her jaw is missing. Just general facial structure abnormalities,” said Rady.
Maddie is developing at an average rate and has even started to try speaking.
“Everything looks good as far as her voice box and vocal cords from what we know. Her airways are getting bigger and she did start making little squeaky sounds around her tracheal tube,” said Rady.
Maddie is currently hearing impaired, but that doesn’t stop her from living life like any other-two and a half year old.
“She’s walking, she is running around, other than having a tracheal tube, she is a completely normal kid and she plays with other kids now and she fits right in,” said Rady.
Although doctor visits can be intimidating especially with Maddie set for her second jaw surgery in the near future, looking back at Maddie’s accomplishments has kept the family going.
“It helps to be able to look back and see everything that she has already overcome, everything they said she wouldn’t do, she’s doing. It’s really been amazing and I’m honestly in awe, she’s my hero, that’s for sure,” said Rady.
If you are interested in donating to Maddie’s medical fund, you can find a link to the You Caring page by clicking here.