His giggles are contagious. Once Zander Tewksbury, 2, starts laughing, his mom can’t help but laugh along with him.

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 autismand 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.

“We really need to fence in the backyard. It’s not like he can wander off, but we have to protect him from what could come in — like a dog. And hopefully get a wheelchair accessible shower and just do things to make it as comfortable and easy for him as possible as he gets older.”

A benefit will be held from noon to 6 p.m. Sunday, Oct. 27, in the Petoskey High School culinary classroom. The spaghetti dinner will also feature a bake sale, silent auction and a raffle. Entry is by donation.

All money raised will help the family with medical expenses and for house upgrades to help Zander learn to be as independent as possible as he gets older.

“Before I had Zander, I never thought I’d be able to take care of a special needs child,” Middaugh said. “But he’s a blessing. He’s taught me so much about myself and I hope others can learn from him. I can see all that is wrong but he’s perfect and I love him.”

Middaugh tickles Zander’s belly again. He giggles uncontrollably.

“He’s just so happy,” she said as she smiles at him and tickles him some more.

“I would have never picked this life for him, but he loves his life and I will always love this little angel.”