Patient Story

Revolutionary Research Underway with First-in-Man Clinical Trial for Hunter Syndrome

Hunter SyndromeAs an academic medical center, many physicians at Emory not only take care of patients on a daily basis, but also partake in research and teaching/training the future generations of physicians.

It’s through discovery that happens during clinical trials and research that allows for new advancements in medicine to be made. Providing the standard of care of is not always enough. New treatment therapies, technology and care delivery techniques must be developed, tested and perfected in order to keep advancing health care.

Not sure what clinical trials are? Check out our blog post that explains Clinical Trails>>

 
Currently happening at Emory is the first-in-man clinical trial, testing a newly developed drug for a rare genetic condition called mucopolysaccharidosis type II (MPS II) or Hunter syndrome.

Hunter syndrome is a hereditary disease in which a critical enzyme is either missing, or there is not enough of it. Without enough of this enzyme, long chains of sugar molecules do not break down properly in the body and accumulate in the organs and tissues and become toxic.

To treat most cases of Hunter syndrome, an enzyme replacement medication is used, but this regimen does not cross into the brain to treat the most severe cases of Hunter syndrome. In this particular trial, Emory researchers are testing whether a man-made enzyme fused with an antibody and injected into the bloodstream will deliver the enzyme therapy into the brain. This is the first time this medication combination has been tested in a human.

The video below features Emory patient, Chris Dutcher. “By testing this new medication for the first time in a human, my hope is to help children with severe Hunter syndrome,” says Dutcher, whose younger brother also has the same disorder.

Chris has the mild version of Hunter syndrome, but his symptoms are still quite serious and involve the lining of the brain and spinal cord, which are not treated by existing medications. He is the first patient to receive the new treatment therapy.

More information about Hunter syndrome and this clinical trial can be found in the Emory News Center. Learn more about clinical trials at Emory Healthcare.

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Special Emory Clinic Seeks to Diagnose Rare Diseases

Emory Special Diagnostics Patient

Rheumatologist Heather Gladue, DO, sees patient Drew Crenshaw during a check-up at Emory following his diagnosis of severe gout.

Emory Healthcare patient, Drew Crenshaw, was just 18-years old when he started down his six-year journey to diagnosis. After seeking medical help for crippling ankle pain, X-rays revealed that Drew had minor stress fractures in both his feet. Wheelchair bound for six months with casts on his feet, Drew withdrew from college and returned home to recover. But even after his casts were removed, Drew’s pain not only continued, but spread to all of his joints.

“Some days, the pain was so bad I could not even get out of bed,” says Crenshaw. “My shoulders, knees, elbows, fingers and ankles were all affected. Everything hurt.”

After visiting doctors and health care facilities in several states, Drew came to Emory’s Special Diagnostic Services (ESDS), a year- old practice dedicated to evaluating patients with undiagnosed symptoms and/or illnesses. There, the multidisciplinary team strives to improve each patient’s health by thoroughly reviewing his or her medical history before referring on to the appropriate Emory specialist for treatment.

Rare and hard-to-diagnose diseases present extremely difficult problems not only for patients and their families, but also for their physicians who struggle to identify and treat these disorders. Often, patients experience symptoms that can last for years without a diagnosis, which can result in treatment delays, repeated diagnostic testing and increased spending.

After spending five days in Emory University Hospital, Drew’s care team diagnosed him with a severe case of gout, a condition often characterized by recurrent attacks of severe inflammatory arthritis, but uncommon in patients his age.

“With a diagnosis confirmed, the team ordered specific medications for Drew while getting all of his biochemical levels back in balance,” says Debra Cohen, RN, nurse navigator at Emory Special Diagnostic Services. “Our specialists really worked together to help this young man, who had been suffering with extreme pain and discomfort for months.”

For every case presented, the physicians and care team at ESDS take time to review and form a complete picture of the patient’s condition. Led by medical director Clyde Partin, MD, ESDS physicians work with experts across every specialty area at Emory, coordinating efforts to evaluate and diagnose each patient’s illness. This multidisciplinary care team approach allows patients to be seen and evaluated by a team rather than going from one doctor to the next in search of a diagnosis.

While an absolute diagnosis is not always possible, the ESDS team devotes as much effort as needed in an attempt to determine the source of the problem.

“Our mission is to bring our best resources together to illuminate the patient’s problem and where possible, provide a diagnosis to empower patients to manage their disease,” says Partin, associate professor of medicine at Emory University School of Medicine. “We believe this service will benefit many people who have been in trying to identify an unknown illness.”

Today, Drew is back in college, pain-free and thriving, almost six years after his pain first began. He returns regularly to visit the Emory Special Diagnostic Services for check-ups.

“I’m not sure where I would be today without the outstanding care from the Emory Special Diagnostic Services,” says Crenshaw. “They truly saved my life.”

Check out this video to see more of Drew’s story

To see if you are eligible to become a patient at the Emory Special Diagnostic Services, view our online questionnaire or call 404-778-0990 to speak with a member of our team.

Additional Resources

Learn more about our ESDS team including: David Roberts, MD, the Charles F. Evans Professor of Medicine; Jonathan Masor, MD, associate professor of medicine; Thomas Jarrett, MD, assistant professor of medicine; Sharon Bergquist, MD, assistant professor of medicine and Debra Cohen, ESDS nurse navigator.

For additional questions, please view our Frequently Asked Questions.

Former College Football Player Makes a Comeback after Stroke Recovery

Patient David Jacobs & the Jacobs FamilyAs a defensive tackle on the University of Georgia’s football team, David Jacobs was at the top of his game, physically and mentally. But in November 2001, everything changed.

Jacobs had been feeling strange all week, even missing two football practices – a rarity for a player with his level of devotion. He’d had headaches and felt dizzy and lethargic. He chalked it up to his demanding schedule and dehydration. Hoping to play in the upcoming Ole Miss game, Jacobs headed back to practice, only to take a particularly hard hit that left the right side of his body numb and tingling – hallmark symptoms of stroke. Just minutes later, Jacobs became unconscious and unresponsive in the training room.

Jacobs was rushed to a local Athens hospital, where diagnostic tests revealed that David would need advanced care for a stroke. He was transported by helicopter to Emory University Hospital, Atlanta’s first Comprehensive Stroke Center. David learned that he’d had an occlusion in his vertebral artery, which serves as a major supplier of blood to the brain. A blood clot followed developed, disrupting blood flow to the brain. When the brain doesn’t receive enough blood, a stroke occurs.

“I went from working hard everyday on the field to having a stroke, just like that,” Jacobs recalls.

At one point, the prognosis was grim. While he was unable to talk, eat or walk, David’s family prayed by his bedside that his condition would improve so that he wouldn’t have to undergo risky surgery. Their prayers were answered.

“I remember that bit by bit, we began to see signs that he was starting to improve,” says Desiree Jacobs, David’s wife, who was his girlfriend at the time of his stroke. “If there’s one thing to know about David, it’s that he’s a fighter, not just on the field, but in all areas of his life. Surviving this was no different for him.”

David spent a month in Emory University Hospital’s Neuroscience Intensive Care Unit. From there, he moved to Emory’s Center for Rehabilitation Medicine, a multidisciplinary center that provides ongoing care for patients who have undergone a stroke or spinal cord injury, or individuals with neurological damage, musculoskeletal problems, pain, amputations and chronic disease. There, he would spend three months learning to walk, eat and do the basic things that used to come so easily to an athlete of his caliber. His care team consisted of physical and occupational therapists, speech pathologists, case managers, dietitians, doctors and nurses, all whom had a hand in David’s recovery.

Looking back, of the many things David had learned, listening to his body has been the most essential.

“My body had been warning me that something wasn’t right,” David says. “It’s important to know the signs of stroke, like a sudden severe headache, trouble speaking and numbness so that you can get treatment right away.”

Now nearly 11 years later, David is married with two young sons and works full time as an account manager in the mortgage industry. Tall and athletic, David certainly looks the part of former football player. But, the role he’s most proud of? Stroke survivor. Learn more about David’s journey in the video below:

Read more about David’s story on espn.com and UGA’s athletics website.

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Joshua Jamison’s Hospital Choice Made the Difference…THREE Times

Joshua Jamison

Joshua Jamison, Emory Healthcare Patient

When he begins to share his story, Joshua (Josh) Jamison will tell you that it starts much like it does for many of us. “I decided to start college at 18,” he says. “I had just bought a house on a lake and the boy-to-girl ratio was 3-to-1, those seemed like good odds,” he chuckles. It’s not until later in the story that his jovial attitude and carefree spirit might begin to surprise you. Josh has been through more physically in the last 12 years than most people have to endure in a lifetime, and yet, he continues to smile.

In 2001, Josh was in Snellville, Georgia, heading home on I-24 when he was struck by an 18-wheeler. The physical damage was severe. His head was split open and he was unconscious. Thankfully, he had a friend with him, who called 9-1-1. Josh was lifeflighted from the scene and it wasn’t until weeks later that Josh came-to from his coma. “All I remember is that I woke up at Emory,” he recalls. “After a month, I started to remember things. I was paralyzed on my right side for some time. A lot of it is still very fuzzy.”

Josh didn’t return to school after the accident, but he did return to work. Having worked much of his life in hands-on jobs, Josh got back into the swing of things working as an arborist. At 26 years old, he was on the job hanging a tree, or taking it down vertically (as opposed to horizontally, which is typical). Somewhere in the process, the tree fell as planned, but not in the place where Josh expected it to. The tree came down on Josh’s foot, which was shattered, cut open, and badly damaged. He was initially sent to a local area hospital that told Josh the outlook wasn’t good– they were going to have to amputate his leg from the knee down. Being an active and young man at the time with a mom who he describes as “great at researching medical caregivers,” Josh wouldn’t accept amputation and immobility as his future.

He was again transferred to Emory, where Dr. Culbertson told Josh that they would be able to save not only his foot, but his leg as well. “He used my back muscle to repair my foot. They amputated my big toe instead of my whole leg, and grafted the muscle to preserve its function. I still have my balance and I don’t have to use a prosthetic limb.” After two major accidents in a 4 year window of time, Josh vowed to return to school, this time, not because of the promising 3-to-1 male-to-female ratio, but that didn’t stop fate from intervening, “That’s when I met my wife,” he recalls with a sigh of relief.

You’d think for Josh, it was “happily ever after” from there, right? Not so fast. Only a few months ago, in late 2012, when using a backpack blower while atop of a flat roof, Josh slipped. He landed on his elbow in the concrete driveway below. The impact shattered Josh’s elbow and was yet another blow to the healthy outlook on life he had regained after the previous two accidents. Once again, Josh chose and was treated at Emory, this time, by Dr. Claudius D. Jarrett, who would go on to repair Josh’s elbow. “I’m still in rehab for that one,” he adds.

After 12 years and three accidents, Josh opted to steer clear of jobs that required manual labor. “I’ve actually retired now and I’m happy. I have my wife, my life and my health thanks to the doctors at Emory.”