Julia S. - Georgia

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Listen to a HD 98.3 radio interview with Julia and Helen about their 'Make A Wish' trip.

Julia can say, "I just met President Bush at the White House!"
By Trent Butler
Story Published: Sep 18, 2007 at 9:55 AM EDT 

Just like any other third grader, Julia Smith spends part of the afternoon in the kitchen finishing her homework.

But, her class-mates at Augusta Prep won't be able to compete during show and tell next week.

(Watch The Video)

Julia remembers what happened when her Mother told her she was headed to the White House.

"I was really excited, I was jumping up and down. And what happened? I hit my head on the car seat".

At least, this was a happy bruise. Julia has to limit her physical activity since she has a rare blood disorder, called Glanzmann's Thrombasthenia. She is missing a protein, which allows her blood to clot. That means, Julia has a higher risk of nose bleeds, even internal bleeding. Contact sports are out, but tennis and swimming are allowed. So is, a visit with the leader of the free world, after Julia told her mother, about her big future plans.

"Well, you know, Mom, I want to be President when I grow up. I want to meet the President of the United States and spend the night in the White House."

After this once in a lifetime experience, Julia's mother will continue her quest to raise money for a scientist, who's making progress in finding a cure for GT. Helen Smith adds, "Once I discovered a researcher at the Medical College of Wisconsin, who was actively searching for a cure, and having some good luck with it, I decided, what I needed to do was, raise some money for him, help him out."

If you'd like to donate, or get more information, we've provided a link in this story.

During their White House visit, Julia and her family presented President Bush with a shirt from the Augusta National.

Before going, Julia put together a list of questions for the President, including, "How many times a day do you shake someone's hand?", and "Can you make yourself a sandwich in the middle of the night if you get hungry, or does someone else make it?"

Web posted Sunday, February 5, 2006

Mom starts nonprofit to fight disease
By Charmain Z. Brackett

Helen Smith never thought she'd champion a cause until her daughter, Julia, was born.

Julia, 7, has a rare blood disorder called Glanzmann's thrombasthenia. Mrs. Smith, through the Glanzmann's Research Foundation, a nonprofit organization she founded, helps raise money for research to find a cure.

"The year she was born, there were only 200 reported cases" of the disease, said Smith, whose organization will be the beneficiary of a fundraising dinner at the National Science Center's Fort Discovery in March. The event will feature a silent auction with items such as a celebrity hunting weekend.

Julia was diagnosed with the disease when she was about 6 months old.

There were some complications when Julia was born, and she spent the first two weeks of her life in intensive care.

"She was covered in bruises" after birth, Mrs. Smith said.

Routine blood tests didn't show anything, she said.

At the time, Smith and her husband, Dr. Alan Smith, were living in Birmingham, Ala. The family returned to Augusta to visit Mrs. Smith's parents.

During the visit, Smith was awakened in the middle of the night by her daughter's cries. When she went to check on Julia, she found her covered in blood from a simple scratch on her face.

Smith's mother, Anne Proctor, worked at the Medical College of Georgia's pathology lab. Mrs. Smith took her daughter to MCG and asked that every test be done to find out why Julia bled so profusely.

The Smiths moved back to Augusta the next month.

When Smith was told what was wrong with her daughter, that people with GT are missing a protein that helps blood to clot, she wanted to learn more about the disease.

"I found a blurb in the back of a medical journal, and that was it," she said.

She said she spent a lot of time on the Internet putting her e-mail address and phone number on the registries of different sites for people with rare disorders in the hopes of locating someone else with the disease.

In the summer of 2001, a grandmother of a GT patient from Ohio contacted Smith and gave her $1,500 that she had raised through bake sales and softball tournaments. The woman wanted the money to help others with GT, Smith said.

At first, Smith thought she'd donate the money to a hemophilia research foundation, but then discovered that Dr. David Wilcox, of the Medical College of Wisconsin, was conducting research on GT. That, she said, spurred her to start the nonprofit.

There are few treatments for the disorder, she said, and the ones that do exist are costly and some have their own dangers. Treatments include bone marrow transplants and platelet transplants. The Smiths have tried one medication, but a three-day supply is $20,000.

Julia has frequent nosebleeds, and she can't walk for a long time or take part in some types of physical exercise because she bleeds behind her knees.

During the past few years, Smith has worked on several fundraisers for the foundation.

The first golf tournament nearly five years ago raised $5,000, and almost all of the proceeds go directly to Wilcox's research.

Wilcox attends the fundraisers and talks about the progress of his research.

Those with GT and their family members stay connected through the foundation's Web site, www.glanzmanns.com.

Smith believes that there will be a cure for GT.

"I'm excited about that," she said. "I hear about things and feel I can help make a difference. We're going to conquer it, get rid of it. I'm sure of it."

This story was first written by Staff Writer Lisa M. Lohr
of the Augusta Chronicle on Thursday, September 6, 2001

At first glance, Julia Smith's curly golden hair, huge blue eyes and Cupid's bow lips bring to mind a life-size porcelain doll. But the bruises that dot the 2-year-old's body from head to toe tell a different story. Julia was born with a rare, incurable bleeding disorder called Glanzmann's thrombasthenia.

''When she was born she was black and blue,'' said her mother, Helen Smith. ''But all her regular blood tests came back normal.''

Glanzmann's disorder keeps blood from clotting normally and causes prolonged bleeding, turning daily childhood accidents into serious injuries. ''Her platelets don't work as well as they should,'' said Dr. Alton Lightsey, Julia's hematologist at the Children's Medical Center. ''Under a microscope they look normal.''

Two-year-old Julia Smith, here with her mother, Helen, suffers from an uncurable disease that hampers her blood's ability to clot.

But Julia's platelets are missing a protein that helps blood clot.

In the 1970s and early '80s scientists discovered the defective gene with the missing protein. David Wilcox, a researcher at the Medical College of Wisconsin, has used gene therapy to correct the disorder in laboratory cultures. He hopes to be able to cure the disorder within five to 10 years. ''Gene therapy is getting better each year. It looks promising,'' Dr. Wilcox said.

His study offers hope to the Smith family, who spend each day trying to protect Julia from injury. Even crying or coughing can bruise her or start a seemingly endless stream of blood. Her parents apply pressure to stop bleeding from cuts. But they must wait out her severe nosebleeds, which can last as long as a week.

''It was stuff that never, ever crossed my mind,'' Mrs. Smith said. Even common antibiotics, immunizations or teething cause Julia to bleed. During a nosebleed, there isn't anything to do except constantly wipe her nose, Mrs. Smith said. The family has learned to cope during the day, but at night the bleeding tends to make a mess, matting her hair and eyelashes.

''It doesn't stop just because she goes to sleep,'' Mrs. Smith said. ''In the morning we try to clean her up real quick and not make a big to-do about it.'' The nosebleeds, although scary, aren't what worries the Smiths the most. Internal bleeding poses the greatest risk.

''The scary ones are the ones you can't see,'' Mrs. Smith said.

She has had to learn to read her daughter's behavior for signs of internal bleeding. If she is more tired than usual, has little appetite or a bloodlike smell on her breath, Mrs. Smith gets her to the doctor. The last time Julia was admitted to the hospital, her hemoglobin measured 6; normal hemoglobin registers about 12.4. ''At that point she had lost half her blood,'' Mrs. Smith said.

Mrs. Smith tries to keep life as normal as possible for her daughter - even recently enrolling her in a preschool class for three hours a week. But she always keeps a couple of ''hospital bags'' packed just in case. ''There's no predicting it,'' Mrs. Smith said. ''April was a real bad month for us. She was springing leaks all over the place.''

For females with Glanzmann's, menstruation and pregnancy pose serious threats. Menstruation can be controlled with hormones, but pregnancy would be fatal. The Smiths hope that Dr. Wilcox will have more answers by the time Julia has to deal with those problems.

Dr. Wilcox said there is still much to do, and a lot of money to raise, before his research can help Julia. ''Right now, the common way to treat it is to give platelet transfusions,'' he said. ''But these people can develop antibodies and reject whatever (transfusion) they get. ''So, we're developing gene therapy to correct this disorder. If we can put the correct gene into those cells, hopefully the person could be corrected for their lifetime.''

Dr. Wilcox has bred 10 dogs and many mice with the disorder and is trying to correct it.

''We have to verify that it (treatment) works and is safe,'' he said. In the meantime, boarding the animals is an expense he needs help with. The cost of feeding and housing the animals is $5 per dog per day and 25 cents per mouse. Compared to the extensive costs of the research itself, Mrs. Smith said she was happy to hear that the cost of keeping the animals was something she could contribute to.

''That's something I can help with,'' Mrs. Smith said. ''As long as the animals are going, his research will keep going.'' Mrs. Smith coordinated a benefit golf tournament at North Augusta Country Club in August. The tournament raised $5,000 that will go directly to Dr. Wilcox's research subjects.

Mrs. Smith said she plans to continue the tournament each year, to help bring the cure to her daughter.

Throughout Julia's life she has had to make visits to the Hemotology/Oncology clinic at the Children's Medical Center because of her rare blood disorder, Glanzmann's Thrombasthenia. Julia has always been aware that there are children whose disease causes them to lose their hair and she often asked questions about why.

When Julia was 6 she saw, through the GT website, that there was a young boy, Daniel, who had GT, who'd lost his hair. I explained to Julia that Daniel was having a Bone Marrow Transplant because of his GT and that the medicines he had to take made his hair fall out. Julia said that she hoped other people didn't stare at him because he had no hair. She thought he must be sad without his hair. She said she wished she could give him some of her hair. I told her about Locks of Love and that she could give some of her hair to some of the children who had to lose their hair. Julia decided that day to start growing her hair long enough to donate. It took a year for her to grow her hair.

Julia had to be hospitalized in the spring for a bleed. I asked her what she wanted to do when she got out of the hospital and she told me she wanted to donate her hair. The day after she was released from the hospital we went to visit 'Miss Debbie' who cut off over 10 inches of Julia's hair. Julia was very proud, and so were her parents!

Email Julia's mom

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