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Family, day care adapt to child with rare genetic syndrome

Jenny Nelson has a laugh with her son, Josh, at Nokomis Child Care Center II in south Fargo. Eighteen-month-old Josh was born with a rare genetic condition called Treacher-Collins syndrome.

While at a restaurant with her family recently, Jenny Nelson noticed a little girl staring at her 18-month-old son, Joshua.

“He looks different,” the girl said.

Jenny, 34, of Fargo, calmly responded, “Well, do you look the same as everyone else? Everybody looks different, and this is the way he looks.”

Little Josh was born with a rare genetic condition called Treacher-Collins syndrome, in which underdevelopment affects facial structure.

Children with Treacher-Collins may look different, but they typically show normal intelligence and grow up to become normally functioning adults.

But it can lead to complications with hearing, vision, speech, and drinking, chewing and swallowing.

Though Josh’s case is considered mild, he wears a device called a BAHA attached to a soft headband to help him hear. He also needs eye drops, nasal spray and suctioning to help him breathe, and help eating.

Otherwise, he’s a typical almost-2-year-old on the go.

“He’s a happy-go-lucky kid, and he doesn’t let anything stop him,” his mom says.

At Nokomis Child Care Center II in south Fargo, he’s known as a “people pleaser,” says one of his day care providers, Leslie Rice, who’s been working with him for about a year.

He likes to be around the other children in his room, and he freely gives out hugs and blows kisses.

“When he meets someone new, they fall in love with him immediately,” she says.

Rice says she was a little nervous about working with Josh at first. She’d worked with other special-needs children, but not one with Treacher-Collins. But after meeting him, it was no big deal.

“We never treated Joshua like he has special needs. We have to do a little extra, but that’s it. His cares went into our routine, and that was that,” she says.

‘Reality check’

When Josh was born on Nov. 13, 2012, neither Jenny nor her husband, Mike, had heard of Treacher-Collins, which only affects 1 in 50,000 people. All they knew was their newborn baby boy was having trouble breathing.

“The right side of his nose was completely blocked off, and the left side was pinhole-sized,” Jenny says.

Her medical team immediately began a flurry of tests.

“At that point, it’s a reality check, because you’re thinking, ‘OK, what’s going on? What are we going to have to deal with?’ and you’re scared, very, very scared,” she says.

Josh spent the first three weeks of his life in Sanford’s neonatal intensive-care unit. He’s done a sleep study, been hooked up to an oxygen monitor, and worked with speech, occupational and physical therapists. He’s had three surgeries – two involving stents in his nose and one to repair the hole in his hard palate. He may need more in the future.

But life has gradually become less scary for the Nelsons as they’ve grown and adapted along with Josh.

During her son’s stay in NICU, Jenny learned as much as she could from her nurses to prepare her for managing his needs at home. There, she learned to take cues from him instead of the machines.

“They told me, ‘Don’t look at the monitors. Look at your child. Because you’re not going to have these monitors at home,’ ” she says.

Since settling in to life back at home, Jenny has become Josh’s advocate, fighting for the care, supplies and coverage he needs.

She says it helps to have the guidance and support of their family, friends, employers, doctors, therapists and day care providers.

“I couldn’t do this without them,” she says.

‘Born a certain way’

Jenny knows Josh will probably get stared at again, and by kids (and adults) who may not so willingly accept her response as the little girl in the restaurant, but she’s prepared.

“I know there are people in this world who only see what’s on the outside, and there is no possible way I can keep him from it,” she says. “If he comes home and says, ‘Someone made fun of me,’ I’m just going to tell him, ‘Well, they don’t know YOU.’ ”

However, if strangers have questions, she’s more than willing to answer them. When they come from a place of curiosity instead of judgment or fear, she sees it as an opportunity to educate about Treacher-Collins.

“Don’t be scared. If you wonder about it, ask questions. Whether a child has Treacher-Collins, Down syndrome or something else, don’t make fun of them, because it’s not their fault, they had no control over what they look like, and everybody’s born a certain way,” she says.

“Just get to know them, because getting to know them can change your life dramatically.”

Plus Josh has an older brother, 5-year-old Jason, who’s ready and willing to stand up for him.

“He doesn’t care what he looks like,” Jenny says of Jason. “This is his brother, and he’s proud to tell anybody who’ll listen.”

Like with everything Josh-related, she tries to keep things in perspective, stay optimistic, and take things as they come.

“That’s one thing I’ve learned from him,” she says.

And that with a special-needs child, you have to let go of certain plans and expectations.

For example, one of the hardest parts of Josh’s journey thus far for Jenny was when she couldn’t allow Jason to meet his little brother right away because he had a cold.

Jenny, an only child, really wanted Jason to have a sibling, and delaying that moment hurt.

But, finally, “He peeked over and saw him for the first time, and I will never forget the look on his face,” she says.

On Thanksgiving 2012, Jason got to touch Josh for the first time and gave him a kiss. Then, Jenny says, it felt like her family was complete.

“It’s been a joy to have Joshua in our lives,” she says. “I wouldn’t change anything. If I could take the Treacher-Collins away, I would, but I think that’s what makes Joshua Joshua.”

Meredith Holt

Meredith Holt is a features/business reporter for The Forum who covers topics in health, mental health, social issues, women's issues, arts and entertainment, food and more. She also writes a column on health and wellness, body image and media representationShe was a copy editor/page designer for six years prior to joining the features team in March 2012.

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