When 3-year-old Piper Jones smiles, she looks just like any other child her age. She has a twinkle of curiosity in her eye and an independent streak to know what she wants to do and when she wants to do it.
But Piper is no ordinary little girl. She is one of an estimated 250 children with a rare genetic disorder. Her parents first noticed something wasn’t right shortly after she was born.
“It became more obvious between nine and 12 months that she wasn’t meeting her milestones the way that typical children do,” said Emily Jones, Piper’s mother.
They tried every test they could think of, but were getting nowhere in terms of answers. That is, until they had Piper’s genes tested. The test comes with a $21,000 price tag most of which is covered by insurance.
Six months after drawing blood from Piper and both of her parents, they had an answer.
“We finally got results just a few days before he second birthday, and found out that she had a mutation on her STXBP1 gene,” said Jones.
The mutation affects several things. Most people with the disorder are non-verbal, 95% of them suffer severe seizures. A large portion of those with the genetic mutation also have severe to profound intellectual disabilities.
Due to Piper’s ability to learn, and a gut feeling, Jones believes her daughter is not going to have to deal with the severe, let alone profound, intellectual disabilities. The child is also free of seizures, at least for now. She admits, all of that can change at any time.
As a result, the Jones family is making the most of their time together while Piper is still able to interact with them. They visited Disney World twice last year, and after the second trip realized it would be the perfect place to meet with other families that have children who also have the genetic disorder.
So far, 60 families have expressed interest in getting together at the Magic Kingdom in May 2018. All of them are planning to pay for their trips themselves. However, Jones wants to make sure they can all be together in one place, if only for a short time.
Emily Jones wants to rent a space at Disney for four hours, so the group can have breakfast and the children can spend time together while interacting with Disney characters. Jones says, the estimated cost is around $10,000. She wants to raise the money, to take that weight off family’s shoulders.
“We’re just trying to make sure that nobody is paying for more than their trip, because that’s expensive enough in itself,” she said.
Jones has set up a GoFundMe page, and is about halfway to her goal.
In the meantime, Piper will continue to dress up in her Disney costumes and admire herself in front of her magic mirror that joyfully tells her she’s as pretty as a princess. To which she gleefully repeats, “princess,” one of the few words she does use.