PELICAN RAPIDS, Minn. — Just a few seconds and it's pretty clear 1-year-old Dorothy is a bundle of joy to her parents, Josh and Emily Holmes of Pelican Rapids.
But little Dorothy, whose adorable smile can make anyone's day, is on her 40th doctor's visit because of something called Joubert syndrome.
"(At) the 24-week ultrasound, they noticed her cerebellum was underdeveloped," Emiy Holmes said.
Joubert syndrome is a rare genetic disorder that can affect motor skills, eyesight, intellectual development and kidney or liver function. In fact, Dorothy had an MRI within four hours of being born. It showed something called the molar tooth sign.
While Joubert syndrome is nearly always fatal, Dorothy is getting a lot of early intervention for the issues she faces.
"When you are expecting a baby and come home as a family of four . . . you don't think it will come with this other stuff. And you are worried about it, but it turns out so great," Emily Holmes said. "It is so worth it, every moment is cherished, every milestone is celebrated."
Like most parents, Josh and Emily Holmes have felt the rollercoaster of emotions. Their beautiful baby has many challenges facing her, but they ensure Dorothy gets all the love and attention she deserves.
"Every milestone is amazing," Josh Holmes said. "From day one, (it was) more fear than sadness on what is going to happen in life, but every day she amazes us. Even rolling from her tummy to her back was a big day in our house. She amazes us every day."
There are just a dozen toddlers in the tri-state area with a diagnosis of Joubert syndrome. The parents of these kids often support each other because of the shared experiences.
Because of better genetic testing, more families are learning about the condition early, ensuring quick intervention in treating some of the medical problems impacting those diagnosed.
The Holmes' goal is to get Dorothy to more birthdays.
"She put things into perspective for us. It has made us better parents and better people," Josh Holmes said.