A happy life: Despite rare diagnosis, Petoskey family moves forward
Zander Tewksbury, 2, smiles as he plays with his toys. (September 19, 2013)
And as they cuddle together on the couch, Krystal Middaugh tickles her son's belly even more. Happy laughter fills their Petoskey apartment.
"He's just a happy little guy, always so happy," Middaugh said over the laughter.
"This kid doesn't have a choice, but his life is perfect for him."
At first glance, Zander might appear to be like any other 2-year-old. He plays with his toys in the corner of the living room. He bounces in his jumper. He loves being in his mother's arms. He adores his big brother, Kaden, 6.
But that's where the similarities end.
Zander may never walk on his own. He may never speak more than a few words. He may never learn to go to the bathroom on his own. He may never feed himself. Zander will need assistance for the rest of his life.
In July, just four days after his second birthday, Zander was diagnosed with an extremely rare syndrome known as Pitt Hopkins.
Pitt Hopkins Syndrome is a genetic disorder affecting a specific gene in chromosome 18, called TCF4. The syndrome is characterized by intellectual disability and developmental delay which can range from moderate to severe and include breathing problems, recurrent seizures and epilepsy, gastrointestinal issues and distinctive facial features. Many diagnosed with Pitt Hopkins never learn to walk unassisted and typically do not develop speech skills -- some may learn to say only a few words.
While overall prevalence of Pitt Hopkins Syndrome is unknown, estimates put the number of patients at only about 250 worldwide.
"That week of his birthday was a rough one," Middaugh said.
"It was really hard. He's not 2-years-old to me because he can't do anything a 2-year-old does. And when the diagnosis came, I realized that no matter what I do to help him, it won't fix it."
Middaugh said she and Zander's father, Neil Tewksbury, knew very early on that something wasn't right when Zander wasn't progressing like the other children his age. He wouldn't roll over, play peek-a-boo or crawl.
At first, the family and doctors chalked up his lack of developmental advances to asthma, which he was diagnosed with as an infant. But still -- developmental milestones never came. Doctors ruled out autism and Down syndrome. They were referred to a specialist downstate, and after a series of tests, the diagnosis of Pitt Hopkins finally came.
"They told me Zander has a more severe form of a mental disability," Middaugh said. "If he does walk, it won't be before he's 7. Potty training and self feeding is a maybe."
While the diagnosis meant the family could understand Zander's developmental delays and struggles better, it also meant the family now must focus on what they can do to help Zander as he gets older.
He currently attends therapy five times a week where he works on speech and muscle development. He's moved up into a room with toddlers at his day care so he can be around children his own age. And Middaugh is working on how she will make their new home more accessible for Zander.
The family will be a partner family with Habitat for Humanity in Emmet County, with groundbreaking expected this fall.
"The house will help us a lot, but there are things we will need to do on our own to really help with Zander's development," she said.