All Breanne Bullard of Frisco knows about her son is that he is sick.

When Elijah Bullard was born in April 2007, he suffered brain swelling, couldn't move his arms or legs, and had trouble eating, an assortment of issues that left specialists at Children's Hospital of Orange County in California running in circles.

"All these people were hovering around him wondering, ‘What … is going on with this kid?'" Bullard said. "The whole thing was that he was having all these problems across the board."

Doctors at one point believed Elijah had Peters plus syndrome, a rare condition characterized by some of his symptoms. After blood tests proved inconclusive, that diagnosis was revoked.

"It's frustrating because my kid has brain damage and hearing loss and seizures and how can you possibly tell me you don't know why?" Bullard said. "I can list his 800 different symptoms, but I can't tell you what he has."

Heather Long of Cedar Park, north of Austin, understands the frustration.

Long's 5-year-old son, Charles August Long, died in December 2006 of an unknown, neurodegenerative disease. Today, Heather Long is promoting a bill named after her son, known as Cal, to create a national database of undiagnosed diseases. The registry, which would cost $5 million in its first year, would help foster communication among doctors and researchers "for the purpose of facilitating the early recognition, prevention, treatment, cure and control of such diseases," according to the bill.

"My hope is for this to become the eHarmony or Match.com of undiagnosed illnesses," Long said. "There is no such tool for that if you're undiagnosed."

Dr. Jeffrey Elliott, associate professor of neurology at UT Southwestern Medical Center at Dallas, said a handful of resources are available to help doctors and patients communicate about rare, complicated neurological diseases, but generally there are few places to turn.

In May 2008, the National Institutes of Health started an undiagnosed diseases program. Its goal is to provide answers to patients with mysterious conditions that have long eluded diagnosis and to advance medical knowledge about rare diseases.

Doctors may recommend patients to the program undergo special tests and participate in studies to help with diagnoses, but there are no guarantees.

"Neurological diseases are very complex. Symptoms can be very different and varied in the same disease, which makes it difficult," Elliott said. "If you run tests and they all come back normal … it really becomes difficult."

Elijah suffers from poor hearing and vision, inability to walk or speak, seizures, problems with digestion, swelling of the brain, lack of muscle tone and other symptoms that do not point directly to a single condition. He has been sickly since birth.

Bullard said that as Elijah's medical bills mounted, the family made tough decisions, like moving from a house to an apartment. Eventually, her husband, Michael, was offered a job in Texas, giving the family an opportunity for a fresh start in Frisco.

"It's been a financial battle, to say the least. It's a constant battle," Bullard said. "Everything had to come to a screeching halt when Elijah was born."

After dozens of tests and surgeries and uncertain results, Bullard said she and Michael decided to try a chromosome microarray analysis, an expensive, intensive test that reveals genetic abnormalities that most other blood tests do not. They hoped that it would at least give them a name for Elijah's ailments.

"They said that if anything will show something, this will," Bullard said. "It came back and it didn't show anything."

In Cal Long's case, doctors originally believed he had cerebral palsy. Heather Long said that for three years, she searched for another diagnosis.

"When one of the doctors gave him the diagnosis of cerebral palsy, all other doctors stopped looking," she said. "He was trapped in his own body."

Cal's condition steadily worsened. He had trouble keeping food down, his motor skills were poor and his bones weak. Six months before he died, Long said, Cal broke his femur from falling on a carpeted floor.

After Cal's death, Long spent time researching the resources and support groups available to patients with easily diagnosed illnesses and began preparing to write her congressional representatives. When she learned that the Centers for Disease Control and Prevention maintains a registry of cancer patients, she thought that "it wouldn't be too far of a stretch to work on an undiagnosed registry."

"I'm hoping I can be a voice for people. They're just trying to figure out what's wrong with their kids," Long said. "I don't have that anymore."

Long proposed the idea of a national undiagnosed disease registry to U.S. Rep. John Carter. The Round Rock Republican immediately agreed to sponsor the bill.

Carter said he lost a son in the 1970s after a six-month battle with an undiagnosed disease. Although it was not the only reason he supported the bill, Carter said, his personal connection to the issue made it an easy decision.

"In the great scope of illnesses in the world, this is a very small hole, but it's something that is important for people in that hole," he said. "It's a small bill that'll mean the world to a lot of people."

In May, Carter introduced the "Charles August ‘CAL' Long Undiagnosed Diseases Registry Act of 2009" to the House floor. The bill is being considered by a subcommittee of the House Committee on Energy and Commerce.

Among the co-sponsors is Rep. Michael Burgess, R-Lewisville, who was a practicing doctor in North Texas for nearly 30 years before being elected to Congress in 2002. While working at Parkland Memorial Hospital in the 1970s, he said, he saw the limited resources available in diagnosing newly emerging diseases like HIV and AIDS.

"Early cases of [HIV] were sporadic and they were odd and people were dying," Burgess said. "During the early days it would've been nice to have somewhere to get information like this."

Recently, doctors have been leaning toward calling Elijah's condition a mitochondrial disease, a rare syndrome with no cure. A $12,000 muscle biopsy – with a high rate of false negatives, Bullard said – might provide a more conclusive diagnosis, but the family has opted not to spend the money.

"If we get an answer it won't change anything," Bullard said. "I know that knowing that he has this or that isn't going to change his symptoms. … It's not going to fix it."

Bullard said the proposed registry would benefit children like Elijah, and their parents, who have nowhere else to turn.

"I know it could help because there are people out there in the dark," she said. "You're left just sitting there waiting."


To view the original article click here.