Doctors battle 'torment' of rare undiagnosed illnesses

The images show no hint of his life today: the seizures that will leave him temporarily paralyzed, the weakness that will makes him fall over, his labored speech, his scrambled thoughts.

Andrew, 28, can no longer feed himself or walk on his own. The past nine years have been a blur of doctor appointments, hospital visits as well as also medical tests that will have failed to produce answers.

“You name that will, he doesn’t have that will,” his mother said.

Andrew has never had a clear diagnosis. He as well as also his family are in a torturous state of suspense, hanging their hopes on every brand-new exam as well as also evaluation.

Recently, they have sought help by the Undiagnosed Diseases Network, a federally funded coalition of universities, clinicians, hospitals as well as also researchers dedicated to solving the toughest medical mysteries within the US. The doctors as well as also scientists within the network harness advances in genetic science to identify rare, sometimes unknown, illnesses.

At UCLA, one of the network’s sites, Andrew’s medical team might later map his genetic makeup, then bring him in for a week of exams as well as also consultations with specialists.

Writing A brand-new Disease Encyclopedia

The Undiagnosed Diseases Network was founded in 2015 which has a $43 million grant by the National Institutes of Health (NIH). Building on work already being done at NIH, the initiative expanded to include universities across the country: Duke, Columbia as well as also Stanford are among the some other sites. The goals are to provide answers for patients with mysterious diseases as well as also to learn more about the disorders.

A proposal last month by President Donald Trump to cut the NIH budget by $5.8 billion could put the program in jeopardy.

'Patient zero': The misunderstood stories of how disease spreads

Even with the best technology as well as also the finest brains at work, progress is usually slow. Since its launch, the network has received nearly 1,400 applications on behalf of patients. that will has accepted 545 for review so far. Just 74 of the cases have been diagnosed, including 11 at UCLA. Andrew Whittaker’s case is usually among many in progress.

that will’s like battling “an unknown enemy,” said Euan Ashley, one of the principal investigators of the network’s Stanford University site. “that will is usually a particular form of torment that will some other patients don’t have.”

A diagnosis can end families’ painful odyssey while helping physicians as well as also scientists better understand rare diseases as well as also human physiology, said Rachel Ramoni, former executive director of the network, which is usually based at Harvard University.

Researchers throughout the network use advanced medical technology. For example, to study patients’ gene expression as well as also disease progression, they can make designs using nearly transparent zebrafish, whose genetic structure is usually similar to that will of humans. as well as also scientists can conduct whole genome sequencing, which allows the medical team to read a patient’s DNA as well as also identify improvements that will can reveal what may be causing a disease.

Lynn Whittaker holds an old photograph of her son playing water polo.

“We have powerful techniques to look at every gene that will is usually being expressed as well as every gene that will is usually inherited,” said Stanley Nelson, one of UCLA’s principal investigators as well as also the lead doctor on Andrew’s case. “This kind of is usually an example of true precision medicine.”

Nelson said the network can examine all known genes — not just the ones believed to have mutations that will cause diseases. Doing that will can lead to the discovery of brand-new illnesses.

“Part of what we have to do is usually keep building that will library, that will encyclopedia of what gene as well as also what gene mutations cause what symptoms,” Nelson said. “that will’s just incomplete at This kind of moment.”

Already the work is usually helping patients as well as also their families come to terms with their illnesses. In one case, at Stanford, a toddler was diagnosed with two rare diseases, including a connective tissue disorder called Marfan Syndrome, after doctors conducted a form of sequencing that will looks for improvements in coded genetic segments known as exons.

The life-saving treatment that will's being thrown within the trash

Sometimes answers come by something decidedly lower-tech: collaboration among clinicians as well as also researchers who share experiences, data as well as also expertise.

“A lot of times your ability to be diagnosed depends on who is usually within the room,” Ramoni said. “as well as also what we are doing with the network is usually we are expanding exponentially the number of people within the room.”

Doctors at one institution might think their patient is usually a unique case, only to learn that will colleagues elsewhere have a patient which has a similar illness. nevertheless even when diseases are diagnosed or gene mutations are discovered, treatments may still not be available.

A Life-Changing Mystery

Andrew Whittaker’s odyssey began one afternoon at age 19, when he commenced trembling as well as also couldn’t speak. Doctors suspected he was suffering by anxiety as well as also prescribed medication to control that will. nevertheless Andrew said he continued to have “episodes,” during which everything just went blank.

“that will’s like there’s not enough blood going to your brain,” he said. “You can’t think.”

Lynn Whittaker says that will not knowing what is usually causing her son's disease is usually devastating. "We don't know what we are dealing with. that will's like somebody ripping your insides out."

Andrew also commenced losing his balance as well as also falling off his bicycle. The family visited several hospitals. Doctors discovered that will the receptors in his brain were malfunctioning as well as also that will he lacked sufficient dopamine, a chemical compound within the body responsible for transmitting signals between nerve cells. As a result, Andrew has some symptoms similar to those of Parkinson’s disease. Doctors also confirmed he was having seizures.

Still, Andrew’s symptoms didn’t add up to any known disease.

One afternoon last fall at precisely noon, as Andrew sat propped up on the living room couch, Lynn’s phone alarm sounded, signaling that will was time for his medication. Lynn pried open Andrew’s hand, which was clenched into a fist, as well as also dropped within the pills.

To keep Andrew by falling, the family has lowered his bed as well as also removed carpet by the house. They also bought him a wheelchair. Their precautions don’t always work. One morning, Lynn was within the kitchen when she heard a crash. “I ran in there as well as also he’s laid flat on his back,” she said.

Lynn as well as also Dave Whittaker describe the progression of Andrew's disease to Dr. Stan Nelson at UCLA.

Andrew is usually close to his mom. nevertheless he also gets frustrated. He can’t shower or dress without her help. He’s had to give up the things he loved to do: printing T-shirts. Skateboarding. Shooting short films. He’s lost friends as well as also can’t imagine dating anymore.

“Girlfriends? Forget about that will,” he said, his face twitching as he talks. “They want a guy who can do stuff for them, not the some other way around.”

Running The Medical Gauntlet

On a Monday morning in late January, Andrew as well as also his parents were in an exam room at UCLA. Lynn teased her son, saying she was going to put him in a freezer until doctors figured out what was wrong.

“Then we’ll pull you back out again,” she said, smiling.

“I’ll never get pulled out,” Andrew responded.

“Yes, you will,” she said. “You will.”

Andrew Whittaker gets an MRI at the UCLA MRI Research Center.

Nelson, Andrew’s main doctor, walked into the room. He told Andrew he’d read through the medical records. “We’re going to try to figure you out.”

The work Nelson does is usually personal. His teenage son, Dylan, has Duchenne muscular dystrophy, a genetic disorder that will causes muscle degeneration as well as also weakness. Nelson knows his son’s disease will eventually take his life, nevertheless he said having a diagnosis makes all the difference.

“My heart very much goes out to the families that will don’t even get an adequate diagnosis,” he said.

Nelson suspects that will Andrew’s disease is usually genetic as well.

He asked the Whittakers to describe their son’s journey, then he conducted a short physical exam, asking Andrew to push against his hand as well as also touch his own nose. Andrew trembled as well as also his shoulders tensed, nevertheless he did that will.

by the plague to polio ... 10 diseases you (wrongly) thought were gone

The rest of the week, Andrew underwent several some other diagnostic tests, including a muscle biopsy, an EEG, MRI as well as also a lumbar puncture. He remained upbeat, though running the medical gauntlet clearly wore him out. He also met with UCLA specialists in brain degeneration as well as also muscle as well as also nerve disorders.

At week’s end, Nelson sat down with the family to explain what he’d found. He had reviewed Andrew’s genome as well as also compared that will with that will of both parents. Andrew had one copy of a defective gene that will leads to Parkinson’s nevertheless the genome sequencing didn’t show a second copy, without which that will could not be Parkinson’s.

He explained that will Andrew’s illness was clearly progressive as well as also that will his brain was shrinking, creating that will harder for him to process language as well as also information. Nelson said he still didn’t have a diagnosis — he believed that will was a brand-brand-new disease.

Nelson planned to continue poring over the test results, conducting additional exams as well as also communicating with others within the network. He also is usually analyzing Andrew’s muscle tissue, skin as well as also blood to see whether any mutated gene is usually expressed abnormally.

Even within the absence of a clear diagnosis, Nelson said, rare diseases like Andrew’s help educate scientists as well as also may help some other patients. “These are the people we as a society will owe a great debt of gratitude,” he said. “They are effectively donating their lives to This kind of process.”

Lynn Whittaker was disappointed. “We are still left with just desire that will they will come up with something,” she lamented. “What else do we have?”

Andrew said his relatives have asked if he’s scared the doctors will find something. “I’m more scared if they don’t,” he replied.

Doctors battle 'torment' of rare undiagnosed illnesses

Related Posts

About The Author

Add Comment