Family’s quest to cure disorder heads to TV show

A woman and a girl with Glanzmann's Thrombasthenia posing for a picture.
A woman and a girl with Glanzmann's Thrombasthenia posing for a picture.

July 31, 2010


Originally Published on July 31, 2010

Helen Smith could feel that the baby was wet as she picked her up in the dark bedroom and carried her to the bathroom. It wasn’t until she turned on the light that she saw the blood.

“It was blood, everywhere,” Smith said. “She had just nicked her face a tiny bit and it had saturated her everywhere.”

A re-enactment of that night, a dozen years ago — when she got another sign that something was seriously wrong with daughter Julia — will be part of an upcoming television show. The family’s story will air at 10 p.m. Aug. 9 on Mystery Diagnosis on the Discovery Health channel.

It is the latest effort by the family to raise awareness about Julia’s rare clotting disorder — known as Glanzmann’s thrombasthenia — through an internationally known foundation and Web site, which also raises funds for research to find a cure.

Glanzmann’s patients might have a healthy number of platelets but lack key proteins that allow those platelets to clump together and staunch bleeding. That’s why Julia, whose bruising at birth was attributed to a rapid delivery, was so hard to diagnose at first, Smith said. Her husband, Dr. Alan Smith, was finishing up his residency in anesthesiology at the University of Alabama-Birmingham.

“Alan knew there was probably something wrong with the platelets, but all of the tests they kept doing kept coming back normal,” Smith said. “She has plenty of platelets, that’s not the problem. They just don’t work right.”

The bruising and the testing continued, but the doctors in Alabama were baffled. The platelets even look right under the microscope, said Dr. Alton Lightsey, a retired hematologist/oncologist at Medical College of Georgia Hospital who would become Julia’s doctor.

“It was something at the molecular level,” he said.

Julia was about 6 months old before her grandmother, who worked in the lab at MCG, was able to do tests to show the platelets didn’t aggregate right, which led to further testing and the right diagnosis, Lightsey said.

When Helen Smith went looking for information on the disorder on the Internet, there was precious little to be had. So she started her own Web site in 2001.

“It just kind of snowballed,” she said. “I didn’t know what I was getting into when I started it.”

That also led to forming the Glanzmann’s Research Foundation, in particular to fund the work of Dr. David Wilcox at the Medical College of Wisconsin, who is looking to gene therapy for a cure. Helen has set a goal of raising millions to fund it, as Wilcox is also being funded to work on gene therapy for hemophilia.

“As a mother, it is very difficult to accept that that’s not possible,” she said. “I don’t think a lack of money should be a reason why something like this cannot be corrected.”

That is the reason they agreed to do the TV show, although it meant three days of shooting for Helen.

“Had I known I needed to do that I would have backed out,” she said, laughing, “because I am not an actress.”

It provided some out-of-body experiences for the family. When Julia was younger, her constant bruising led to problems when the family would venture out.

“I was often given a lot of dirty looks and snide comments,” Helen said. “People thought I was abusing her.”

When they went to film a scene like that at a grocery store, the actress wearing bruise makeup generated the same reactions.

“It was weird to take a back seat and to watch people’s reaction to this baby,” Helen said.

Julia got the same feeling as she and a friend sat on the set and watched the recreation of “the blood scene” when her mother first discovered her covered in blood.

“It was sort of weird to watch his little baby covered in fake blood being cleaned up by my mom,” she said.

“You have to be nicer to me now,” Helen said jokingly.