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University of Alabama at Birmingham’s Undiagnosed Diseases Program will expand its services with a new genomics clinic located at Children’s of Alabama. The program, powered by UAB, Children’s of Alabama and the HudsonAlpha Institute for Biotechnology, uses sophisticated DNA sequencing and a multidisciplinary medical team to search for a diagnosis for patients with rare or unusual conditions that have defied diagnosis for years. The program was launched in October 2013.The
Some of these conditions may be so rare that only a handful of people in the world have them. Others may be more common, but have symptoms that present in an unusual way, making diagnosis difficult. It is possible the UAB Medicine program will discover genetic conditions that have never been described.
“Expansion into Children’s will allow us to reach more families who have been living with a condition — sometimes for many years — that they could not understand or put a name to,” said Bruce Korf, M.D., Ph.D., chair of the UAB Department of Genetics and director of the UAB Undiagnosed Diseases Program. “With the advanced tools at our disposal, and an approach that stresses teamwork, critical thinking, consultation and contemplation, in many cases we can provide beneficial information for families who are searching for answers.”
Previously, the UDP saw both adults and children at the genetics clinic in the Kaul Genetics Building on the UAB campus. The Children’s of Alabama clinic location will provide easier access for families with affected children, helping to provide a seamless continuity of care.
“Children's of Alabama is pleased to be a part of this exciting collaborative that holds such promise for the future of pediatric health care,” said Mike Warren, president and CEO of Children’s of Alabama.
Since the program’s inception in 2013, the UDP team has seen more than 100 patients. A diagnosis was made in about two-thirds of those cases with a complete evaluation.
“We’ve had some very gratifying successes,” Korf said. “We have made a diagnosis in one family that completely changed the way several affected children are treated. In other cases, the UDP has produced a diagnosis for conditions that have stymied referring physicians and their patients for years.”
The clinics at UAB and Children’s are run in collaboration with a new genomics clinic at HudsonAlpha in Huntsville, which also conducts whole genome sequencing for the UAB program.
“The collaboration between UAB, Children’s and HudsonAlpha brings together the leading institutions in Alabama in the fields of genetics and genomics, along with unsurpassed patient care, cutting-edge technology, and a wealth of individuals with the experience and training to use that technology,” said Selwyn M. Vickers, M.D., senior vice president for Medicine and dean of the UAB School of Medicine. “In many cases, the UDP can truly make a difference for those who have struggled over the years with the frustration of not knowing what was wrong, and not knowing where to turn.”
“These three collaborative clinics put Alabama at the forefront of genomic medicine and greatly enhance our ability not only to diagnose and treat patients here, but also to demonstrate the value of personalized medicine to a global audience,” said Howard J. Jacob, PhD, executive vice president for genomic medicine at HudsonAlpha and chief medical genomics officer at the Smith Family Clinic for Genomic Medicine.
For some patients, a diagnosis means a chance to receive appropriate medications or other therapy. For others, the knowledge might simply provide an indication of what to prepare for in the future. Even for those for whom there is no therapy, getting a diagnosis — getting answers — can be comforting.
The UDP team, led by Korf, Maria Descartes, M.D., professor of genetics, and Martin Rodriguez, M.D., associate professor of medicine, includes a designated certified genetic counselor and two nurse practitioners. Physicians from various subspecialties, in such areas as radiology, rheumatology and neurology, serve as consultants and provide their expertise as needed.
Patients must be referred to the UAB UDP by their primary care physician or a physician providing ongoing care for the condition under evaluation. Those enrolled into the program typically undergo sequencing of their genome as part of the evaluation process. Genetic testing will be available to family members when appropriate, along with genetic counseling.
“This is a concentrated effort to uncover a diagnosis and bring about effective treatment,” Korf said. “Insights gained during evaluation of a single patient may benefit those presently affected by such conditions and have the potential to benefit future generations of patients, while advancing medical and scientific knowledge as a whole.”
Clinically-validated whole genome sequencing for all three clinics is performed at the HudsonAlpha Clinical Services Lab.
Community Eye Care, the outreach program of University of Alabama at Birmingham Eye Care, is partnering with the Jefferson County Department of Health to give the “Gift of Sight” to those in need this holiday season,
The program, established in 2013, provides comprehensive eye exams and glasses for uninsured patients.
This year, more than 300 patients have qualified to receive complementary eye care Dec. 2-4 at the Western Health Clinic in Midfield, Alabama, and Dec. 5 at UAB School of Optometry. Eyeglasses will be provided to patients who need them, thanks to the generous support of the program’s partners, VSP, Remote Area Medical, National Vision and Allergan.
Each patient applied through the Jefferson County Health Department and was vetted for treatment based on a set of requirements set by the program.
“While our outreach efforts take place year-round through our Community Eye Care program, the Gift of Sight is an opportunity that allows our entire UAB School of Optometry family to join together during the season of giving and make a life-changing impact on those here in our own community,” said UAB School of Optometry Dean Kelly Nichols, O.D., MPH, Ph.D.
Community Eye Care is accepting donations of new scarves, hats and gloves, which will be distributed to those in need during the “Gift of Sight” event. Donations can be dropped off at UAB School of Optometry, 1716 University Blvd.
To inquire about making a donation, call UAB Eye Care at 205-975-2020.
Editor’s note: This is one of several patient stories to appear during the next several weeks that details how UAB’s structural heart program team repaired a serious heart issue with minimally invasive techniques instead of traditional open-heart surgery.
Terry Maddox believed she was in the prime of her life in the summer of 2014. The then 53-year-old surgical scrub nurse had 21 years at her job, four children she loved and seven grandchildren on whom she doted whenever she got a chance.
Her life was sent into turmoil, however, after an abscess formed on her shoulder following a cortisone injection for a rotator cuff injury. She developed a staph infection and, ultimately, endocarditis, an infection of the inner lining of the heart. She also had a stroke during an operation.
“The staph got into my blood stream and started eating away at my mitral valve, and the doctors thought a piece of the valve broke off and traveled to my brain causing the stroke,” Maddox said. “All of this was just a freak thing. I guess I was the one in a million.”
In September 2014, Maddox had a mechanical mitral valve placed in her heart at another hospital; but she developed congestive heart failure shortly after arriving home and began to retain fluid. Caregivers drained 5 liters and then 4 liters of fluid near the heart, and she was twice placed on a ventilator.
“I had so much fluid retention that my right lung collapsed,” Maddox said. “I absolutely could not breathe from all the fluid.”
Ultimately, Maddox’s cardiologist in Tallassee found the culprit — a severe leak in the mitral valve and a moderate leak in the tricuspid valve. The leak caused her congestive heart failure and fluid retention.
“My heart just wasn’t working hard enough to circulate all of my fluids and blood,” Maddox said. “My blood was trying to flow backward because the valves were not functioning correctly. So in January, I was sent to Birmingham to see Dr. Alli.”
|“Ever since Dr. Alli put the plug in and patched my valve, I’ve had no more fluid retention,” Maddox said. “My congestive heart failure has gone from a Class 4 to a 1. I have no problems whatsoever today. None at all.”|
Once Maddox was at UAB, Alli performed percutaneous paravalvular periprosthetic leak closure using plugs originally designed to repair holes in children’s hearts. The procedure was first introduced at UAB in 2013. Alli closed Maddox’s mitral valve leak, which he said would help the tricuspid valve return to normal function too.
“Ever since Dr. Alli put the plug in and patched my valve, I’ve had no more fluid retention,” Maddox said. “My congestive heart failure has gone from a Class 4 to a 1. I have no problems whatsoever today. None at all.”
Alli performed the procedure by going through Maddox’s groin, similar to an angioplasty. Maddox says she felt no pain and the incision, which was about an inch long, healed “fabulously” and very quickly.
“I had a wonderful experience with my procedure, and it took care of three problems — patched the leak, eliminated my fluid retention and got the congestive heart failure under control to where it’s almost nil now,” Maddox said. “It’s hard to believe everything started for me a year ago, but I’ve recuperated wonderfully since I was able to get my heart valve repaired. The stroke paralyzed my vocal cords and right arm, but I’ve got full use of my right arm back. I can swallow again, and I just got my voice back two months ago. It’s been a miracle. Today, I can eat, talk, yell and holler, run around, use my arms and everything. God is good.”