The Times West Virginian

April 27, 2014

After waiting years for Noonan syndrome diagnosis, Toby Schmidt and family busy raising funds

By Chelsi Baker
Times West Virginian

BRIDGEPORT — Even when she was a baby, Toby Schmidt’s parents knew something was different about her.

They didn’t know, however, that they would spend the next 15 years of Toby’s life searching for answers that explain why she wasn’t like other children.

Toby came into the world via emergency c-section with a few anomalies, her doctors said.

She had a short neck, and her ears were set low on her head. They recommended her parents, Mary and Eric, follow up with a geneticist.

Mary had already had such testing done when she was pregnant with Toby, though, but it came back OK.

Toby’s development was slow — she didn’t walk or talk on time, and she never played with toys, Mary remembers. She ate a lot, but she was always very skinny, and doctors had no explanation. When she was in second grade, Toby was diagnosed with a learning disability.

“She couldn’t keep up with the other kids,” Mary said. “The older she got, the further away from her same-aged peers she seemed to be — more immature, not growing up, not learning, not learning from her mistakes, not adding on to what she could do.”

Mary cried over her daughter, who had only one friend and who never thought to study or do chores, but who all the doctors said was normal.

“We basically spent about 15 years listening to ‘everything’s OK,’” said Eric.

Then, the Schmidts moved to Bridgeport. They saw yet another doctor, who asked if anyone had ever checked on why Toby was short for her age.

Nobody ever had.

The family went to Ruby Memorial Hospital, where Toby was diagnosed with Noonan syndrome. Noonan syndrome is a disorder caused by a mutation in one of eight genes, according to the Mayo Clinic. It can be inherited from parents or, like in Toby’s case, it can happen from a spontaneous mutation in a person with no family history of the disorder.

Noonan’s is often characterized by facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. Around 1 in between 1,000 and 2,500 people are diagnosed with the disorder.

Toby hadn’t experienced very many of the physical health complications, but she was experiencing the cognitive problems associated with Noonan syndrome, including learning disabilities.

Finally, there was an answer.

“For almost 18 years, it was ‘she’s fine; she’s fine. She’ll grow up. She’ll be OK.’ And then to find out there’s a genetic anomaly this whole time that could’ve been benefitted possibly by a little bit of therapy,” Eric said.

“With genetic difficulties, a lot of them would never change. But being aware of it, we could’ve treated her differently through her childhood and been ready for some of these issues they say comes with the syndrome.”

But, even with a diagnosis, there weren’t really any extra appointments, Mary said. There was little guidance as to what they were to do next.

When Toby was about to graduate high school, Mary’s brother encouraged her to join an online Noonan’s support group.

“It was the best thing that I ever did because now I have a group of mothers who understand exactly what I’m talking about,” she said.

The group has around 1,000 members worldwide, Mary said. She talked to mothers, who described symptoms that sounded exactly like Toby’s.

“The information I have learned from this support group and finally getting in the right direction has made our lives better because instead of expecting Toby to do all of these kinds of things and grow as she learns, we understand now that we are constantly going to have to remind her, prompt her, tell her, and it makes her life easier because (her parents) are not expecting her to do things that she can’t,” Mary said.

The support group has helped Mary become an advocate for Toby and be able to tell others of her experience and her struggles.

“If I don’t speak for her, she’s going to get lost,” she said. “You know? People won’t understand how hard it is that she works.”

Toby doesn’t think to do chores or homework. She doesn’t know how to plan or manage money. She constantly needs her parent’s help and guidance.

While Noonan syndrome never gave Toby many health problems, she started experiencing pain in her tibia when she was 17 years old. Her x-rays showed a tumor, and her parents took her to Pittsburgh to a tumor specialist, Dr. Kurt Weiss, who biopsied her bone. The test came back negative for cancer.

Toby handled the biopsies and the appointments really well, Mary said, because she just loved Dr. Weiss. She Googled him and found out he had osteosarcoma and wore a prosthetic leg.

“She kind of looks at him like he’s a hero,” said Mary. “He’s had cancer. He’s had to have his leg amputated. He still went to college and became a doctor. He helps people who have cancer. … She looks up to him.”

They decided to donate to an organization that benefits those with cancer in honor of Toby not having cancer, and they decided on the Pittsburgh Cure Sarcoma organization because of Dr. Weiss.

Three years ago, Toby, Mary and Eric walked in the Pittsburgh Cure Sarcoma 5K in honor of Dr. Weiss for the first time. The next year, they raised some money and formed a small team to walk with them. This year, they had shirts made and are raising money with an even larger team to prepare for the 5K in July — which happens to be on Toby’s 20th birthday weekend.

Toby started out raising money by doing chores for her parents. They paid her for her work, and then they matched the money she would donate.

“A lot of people her age are looking forward to going to college or getting jobs. Their lives are just moving on,” Mary said. “Toby doesn’t have a lot of that, but the 5K in Pittsburgh is something that she looks forward to. She counts on that.”

While she is a young woman of few words, if you ask Toby how long she’s going to participate in the 5K, she will give you a definite answer.

“’Till I can’t.”

So far, Toby has raised $1,695 for Pittsburgh Cure Sarcoma in the last two years in honor of Dr. Weiss and the organization that can help someone with the condition that took his leg.

“She thinks she’s his favorite patient,” Mary said.

Almost before she got the words out, Toby corrected her.

“I know!” she said. “There ain’t no thinking about it.”

During the week of June 8-13, Bob Evans in Fairmont will donate 15 percent of its sales from customers who present a flyer during checkout to the Pittsburgh Cure Sarcoma organization as a fundraiser for Toby’s team. The restaurant did something similar for the Schmidts last week as a fundraiser for their other organization promoting Noonan syndrome awareness. Toby’s fundraising campaign for that organization is called “Making a Difference to One.”

“We have limitations with Toby,” Mary said. “We’re not going to donate thousands and thousands of dollars. We’re not going to come up with humongous ideas to raise a lot of money. But we can certainly make a difference to one, so that’s our campaign.”

Every year, Mary attends the Noonan Syndrome Foundation Conference in Florida. The foundation announced that any family that raises $2,000 can attend the conference for free, so the Schmidts decided to raise money to help another family attend.

Mary considers their family one of the lucky ones because Toby’s symptoms are not life threatening. There are other families with more medical bills and more hardship then them, she said.

To help raise money for both their causes, Robin Wright, a family friend, helped organize a bags, basket and bling bingo event. The event is today at 1 p.m. at the Boothsville Volunteer Fire Department, and admission is a $20 donation. Prizes include Vera Bradley and Thirty-One purses, jewelry and Longaberger Baskets. There will also be a raffle and door prizes.

All the donations will benefit Toby’s fundraising efforts for Noonan Syndrome Foundation and Pittsburgh Cure Sarcoma.

Eric is proud of his daughter’s desire to do good, he said. He feels good that she took an interest in fundraising and expresses a great empathy for others.

“I think Toby can contribute to this world,” he said, “it’s just going to be in a different way.”

Email Chelsi Baker at cbaker@timeswv.com or follow her on Twitter @cbakerTWV.