A Day in the Life . . . The science of friendship

Tom, left, with his Camp Munroe buddy, volunteer Joshua Price.

“Are you my friend?”

That’s my son Tom’s pickup line. He uses it most often on the playground when he wants to connect with another kid. Needless to say, most kids think the question — coming in a slightly sing-song tone from a boy they’ve never met before — is a little weird.

Most kids think my son is a little weird.

My son is at Camp Munroe for the next two weeks. He’s 7, and this will be his first time at the camp — at any camp. He was diagnosed “on the autism spectrum” – officially, pervasive developmental disorder, not otherwise specified – when he was a little older than 2.

We don’t want the moon from this camp. In the five years since Tom’s diagnosis, our expectations have continually modified. My great hope for the next two weeks is that Tom will come out of the experience with a friend.

Seems like such a little thing, doesn’t it? But apart from his siblings and cousins, Tom doesn’t have many friends. There are some children at school he names as friends when you press him, but he’s rarely been invited to any birthday parties. When his own seventh birthday rolled around, we sent out 28 invitations to a bowling party and were ecstatic to get five kids.

Most of the time, Tom doesn’t really seem to care. He’s not huddled in a corner of his room, wondering why no one likes him. He watches music videos, he shoots baskets, he rides his skateboard (under close supervision) and plays with his dog. He’s happy.

I care, of course. I worry for the day when he’ll try to make a connection and fail and be hurt. That’s why he’s here at UNMC this week. He spends the school year working hard, he’s 70 percent mainstreamed, he reads near grade level despite some comprehension issues – but he doesn’t know how to connect.

On a tour of the camp last week, I was struck by how withdrawn my son was. At home, when it’s just the five of us, he is outgoing and confident. He can even be combative if he thinks his brother or sister is being unfair, and my older son Joe had better watch out if he teases my daughter, Rosemary. Nobody picks on Rosemary when Tom’s around.

He can be sneaky if he’s trying to get away with something. (Mountain Dew at 7:50 a.m.? Who needs to ask permission?) And he has a little boy’s sense of humor.

On the tour, he showed none of that. He wouldn’t meet staffer Nicole Giron’s eyes. He wouldn’t answer her questions, unless she got face-to-face with him (in a very friendly way) and basically left him no choice.

He was excited by what he saw – the play areas, the other kids, and especially the pool. Monday morning, when my wife got up, he was sitting on the living room couch, holding his bathing suit on his lap.

“It’s Monday,” he informed my wife. “I’m going to play basketball in the pool.”

I hope, when he plays basketball in the pool, he plays with other children.

He’ll probably ask “Are you my friend?”

Maybe one of them will say “Yes.”

Tammy and Olivia

Tammy Kielian, Ph.D., turned to the computer in her office and pulled up a picture of a young girl with glasses, with a sunbeam of a smile, the kind that reaches into your chest. It’s pixelized sunshine; a picture of childhood joy.

“This is Olivia,” Dr. Kielian said.

Dr. Kielian, a professor of pathology and microbiology in the College of Medicine, beamed a little herself.

“She’s a pistol,” Dr. Kielian said, then stopped, and looked at the picture again.

This is why she works now. This is why she does what she does.

kielian and olivia

Olivia, the go-getter, the girl with the indefatigable smile, is Dr. Kielian’s 9-year-old niece; her sister’s youngest kid.

A while ago they noticed Olivia’s vision was getting worse. She went through two pairs of glasses before her family could blink.

A second-opinion suggested it might be the first sign of something else, and it was. Genetic testing confirmed Olivia has juvenile neuronal ceroid lipofuscinosis, better known as Juvenile Batten disease. It’s inherited, autosomal recessive, neurodegenerative. That was a little over a year ago.

Juvenile Batten occurs in about one in 100,000 live births, Dr. Kielian said. That’s very rare — but it still adds up to plenty of kids. That’s a lot of families that will mark time in two ways — from the day before they heard the diagnosis, and the day after.

“It changes everything,” Dr. Kielian said.

Look at that picture again.

Basically: Mutation of the gene CLN3 results in lysosomal storage problems. An abnormal amount of protein and lipids become trapped inside the cells. Like when the garbage disposal breaks, the body can’t clean the clog.

As the material accumulates in brain cells, neurons in the central nervous system begin to die. The first symptom is loss of vision. Then seizures. Then cognitive loss, then motor loss. Then premature death.

A lot of kids who have it are gone by their late teens.

For the past dozen years or so, it turns out, Dr. Kielian’s lab has investigated immune responses in the brain. She had an idea that maybe this had something to do with what her niece was going through; maybe her research might have an impact. She had to try.

David Pearce, Ph.D., an expert in the field, has published 60 papers on Batten. Dr. Kielian emailed Dr. Pearce, the director of the Sanford Children’s Health Research Center in Sioux Falls, S.D., and proposed a collaboration. Almost immediately, her computer dinged with his reply. Then her phone rang, too.

Dr. Pearce was excited. In this much unexplored field, her approach was novel.

Call it fate, coincidence — whatever.

Her research expertise was in line to make an impact on this disease.

Soon, Dr. Pearce’s mouse models — mice with mutated CLN3 genes, just like in these kids — were headed to UNMC.

And in these mice, Dr. Kielian found that the two types of brain cells she studies — the microglia, the brain’s first line of defense, and the astrocyte, which supports neuron viability — are activating early. Very early.

“We believe that when these cells turn on early, they inadvertently contribute to an environment that, down the road, leads to neuron death,” Dr. Kielian said.

Scientists see it all the time: sometimes our antibodies work against us.

“An overactive immune system may be contributing to this disease’s pathogenicity,” Dr. Pearce said.

Today, one of the goals in the study of Juvenile Batten is to slow down this process to give these kids more years and better ones.

Dr. Kielian hopes — along with other investigators grateful for her fresh perspective — that her work will inspire other researchers.

Dr. Kielian has been able to come up with some new ideas that seasoned Batten researchers have found promising.

Dr. Kielian has been able to come up with some new ideas that seasoned Batten researchers have found promising.

Meanwhile, Olivia is doing it all, and with abandon. She’s in gymnastics and Girl Scouts. She’s learning braille. Her mom has her in everything, has her breathing life in with great gasping gulps — like Olivia ever had a problem with that.

But there are good days, and there are bad.

Kids who have Juvenile Batten disease can sometimes rage against the dying of the light. Or they can seem detached.

This awful thing steals them, neuron by neuron. Sometimes parents don’t even tell their kids they have the disease. Sometimes that’s for the best.

Olivia understands that someday she may not see. Right now, that’s what she knows.

Dr. Kielian asked her sister and her husband if there was anything they didn’t want her to talk about for this story. No, they said. Say everything.

“Seizures will initially be controlled by medication,” Dr. Kielian said. “Eventually they won’t.”

Now, a catch in her voice: “Cognitive loss will occur.”

Dr. Kielian soldiered on: “Speech will go. She won’t really be able to communicate anymore. She’ll be in a wheelchair. After that, bedridden. And then the end.”

Silence.

One second. Two …

“Strangely enough, it doesn’t seem real right now,” Dr. Kielian said.

No, of course it doesn’t. Right now, she’s doing something about it. Right now, she’s getting funding, and readying proposals for more. Right now, she’s making presentations at national conferences and investigators are praising her new ideas.

Right now, her sister is seeing this — her sister is going to conferences, too, meeting the scientists who are so hard at work.

Right now, their fight has only just begun.

But this is different. This isn’t in theory.

This isn’t your typical investigation. This isn’t abstract.

They are on the clock.

She nodded at the assessment, repeated it with a whisper: “We’re on the clock.”

But science doesn’t work like that. Research moves at its own pace; and Dr. Kielian has to detach herself — as a professional and a scientist. Her lab knows this story, of course. And she might mention her niece in an opening sentence at a conference. But, there is no picture of Olivia and her sunbeam smile in the lab or at presentations. There is no impassioned plea. There can’t be.

Research doesn’t work like that.

Instead, all she can do is push her sadness into a box and use it as fuel. And she does. And she will. This is what she’ll work on, forever.

“And I will always do it for her,” she said. Always, for Olivia. For that go-getter girl with the smile you can feel in your chest.

“Always,” Dr. Kielian said. “That will never change.”

Finding comfort from grief, one stuffed animal at a time

Aidan Curry was a “wild ride from the start,” recalled his mom, Jennifer Brock, a speech-language pathologist at UNMC’s Munroe-Meyer Institute, over a cup of coffee on a cold January day.

He liked bugs and dinosaurs and animals in general. Stuff 2-year-old boys are wired to love. But his mom isn’t sure what he’d be into now. Trains? Spiderman? Batman? Sadly, she’ll never know. The blue-eyed blond toddler, known to his family as “Tots,” was killed in an auto accident just before Christmas in 2011.

The Curry family had been on their way home from having family photos taken in Lincoln.  A semi-tractor trailer slammed into the back of their car, which held a sleeping Aidan and his little sister, Ansley, in the backseat.

“The car seat wasn’t enough to save Aidan, but the car seat is the only thing that saved Ansley,” Brock said. “Ansley walked away without a scratch.”

Dad Jeff was trapped in the driver’s seat. Brock was shaken up. The ambulance arrived and medics strapped Ansley to a backboard before they whisked her away to the hospital. She was conscious and alert the whole time. Seventeen-months-old and all alone.

Brock struggles to imagine what the experience must have been like for her daughter. On the ride to the hospital, as doctors she’d never met examined her, while she underwent multiple tests, there was no one and nothing familiar to her until someone handed the little girl a homemade quilt. A comfort item. Something recognizable in the midst of the unknown.

And that is where the idea for Aidan’s Animals comes from. “Born out of tragedy but maintained by love,” the non-profit organization was started by the Curry family to honor their son’s short, but meaningful life and remember the kindness that was shown to their daughter in her time of need.

“When you don’t have mom or dad or your sibling, this way you have a teddy bear or a stuffed dog, something to hug when you go to radiology, for blood work…a constant cuddle, something familiar.”

Aidan’s Animals has provided cuddles to more than 800 children in the Omaha area and beyond. Whether it’s Children’s Hospital & Medical Center or Bellevue Medical Center or further away in Connecticut following the Sandy Hook Elementary tragedy, the Brock family continues to give back tenfold what they received those fateful days following Dec. 3, 2011.

Now they want to do it here.

Starting Friday, Aidan’s Animals will conduct a toy/stuffed animal/blanket drive called “Kuddles for Kids” through Feb. 28. The items will be donated to the pediatric units at The Nebraska Medical Center.

UNMC and The Nebraska Medical Center employees are encouraged to contribute to any of the drop sites on campus (listed below). If individuals would like to contribute but are unable to get to a drop site on campus, they can always donate to the cause through Aidan’s Animals wishlist.

“At some point, everyone is faced with a tragedy,” Brock said. “We hope to minimize the effects by offering the highest level of support and creating more positives out of ordinarily horrible and devastating ordeals.”

Tomorrow, Feb. 20, will mark what would have been Aidan’s fourth birthday. Last year, his parents brought treats for his day care friends – cupcakes with cars on them — and opened the presents they’d purchased for him prior to his death, a bug light projector and a marine biologist play set. Brock isn’t sure how they’ll mark the occasion this year, but one thing is certain, it won’t be forgotten.

“I had an initial fear…and I still do…. that he’ll be forgotten,” Brock said. “He had no chance to create a legacy for himself, but he was an incredible person. We just want people to know how special he was.”

Through Aidan’s Animals, they will.

Here’s a list of NEW items employees can donate for the pediatric units at The Nebraska Medical Center:

-Toys
-Books
-Art Supplies
-Tables & Chairs
-Blankets
-Stuffed Animals
-Puzzles
-DVDs

In addition to the following med center drop off locations, individuals can bring items to the Walmart, 1606 S. 72nd St. in Omaha, as well as at Aidan’s Animals headquarters, 2809 Angie Dr., in Bellevue.

DROP OFF LOCATIONS

Clarkson Hospital lobby
Munroe-Meyer Institute, Psychology Department on the 3rd floor
Munroe-Meyer Institute, The Center for Autism Spectrum Disorders on the first floor
UNMC College of Public Health
Durham Outpatient Center lobby
Kiewit Tower Entryway
ITS building entrance
Sorrell Center Alumni Commons
Center for Healthy Living

For more information, e-mail aidansmama3@gmail.com or visit Aidan’s Animals Facebook page.