It's news that no mother wants to hear, your son is diagnosed with a rare disorder that only 250 people in the world have.
That's now a reality for Krystal Middaugh, a Petoskey mother who recently got the word that her 2-year-old son Zander has Pitt Hopkins Syndrome. A mental and physical disorder that is new to the medical world and has few treatment options available.
From birth, Zander faced an uphill battle. Early on, he struggled with simple physical activities and his motor functions were unusually slow.
Just this summer, doctors began doing tests that would reveal that he was battling the disorder.
"They tell me that the possibility of him walking is something that we will never know," Middaugh said.
Pitt Hopkins Syndrome was just discovered in 2007. Early research shows that it is one of the most severe mental disorders on record.
"They told me not to expect more than 5 to 10 words out of him, the most that they never found was 50 words in a Pitt Hopkins child so their vocabulary is next to near nothing," Middaugh said.
But that hasn't stopped Middaugh from seeking out answers. Each week, they visit two different therapists and each month she takes him to hospitals in Traverse City and Grand Rapids for studies.
"There is no treatment and no cure," Dr. Glenn Seagren, Zander's pediatrician said. "They can make some forward progression with their delays but it's hard to know just how far they may progress."
With little information, Middaugh now wants to take Zander to California to speak with the only doctor in the world doing research on this Syndrome.
But to make this happen, it costs a lot of money and this single mother is taking all the help she can get to make her child's life easier.
But to anyone who offers a helping hand, she wants them to know that this isn't something to be sad about. She believes it's better to keep a positive outlook.
"I don't want to see pity in peoples eyes I just want them to learn about it and hear about it and talk about it and help fund the research," Middaugh said.
To donate to Zander's cause visit this site.