Undiagnosed Diseases Program
UAB Medicine’s Undiagnosed Diseases Program (UDP) evaluates and cares for patients who have a severe, chronic medical condition that has not been diagnosed despite extensive efforts by other physicians. Staffed by a team of experienced doctors, the program utilizes advanced technology in the areas of genetics and genomics (the study of DNA for medical purposes) to determine a diagnosis and recommend effective treatment. Our program is powered by UAB Medicine, Children’s of Alabama, and HudsonAlpha Institute for Biotechnology , a collaboration designed to bring a “personalized medicine” approach to diagnosing rare and undiagnosed disease. Personalized medicine is a way of providing health care in which medical decisions, treatment options, and prescribed drugs are chosen based on the patient’s individual genetic makeup.
Two separate clinics have been established: one within the UDP, which is housed in the Kaul Human Genetics Building at UAB, and the other is located at the Smith Family Clinic for Genomic Medicine at HudsonAlpha in Huntsville. In early 2016, UAB Medicine will open two new clinics to better accommodate patients and families. Adult patients will be seen at the UDP clinic in The Kirklin Clinic of UAB Hospital, and pediatric patients will be seen at Children’s of Alabama.
UDP Clinic Location and Hours
Kaul Human Genetics Building
720 20th Street South
Birmingham, AL 35294
Monday-Friday 7:30 am - 4:30 pm
The UDP accepts patients of all ages, but it generally limits its services to patients with rare diseases, conditions not previously known to exist, and common diseases or disorders that develop in unusual ways. Despite evaluation by the UDP team, it is possible that a diagnosis will not be made. If the UDP staff anticipates that it will not likely be able to make a diagnosis, it may recommend alternative programs within UAB Medicine that may be able to help the patient.
Requirements for acceptance in the UDP include:
- Patients must be referred by a physician; self-referrals are not accepted.
- Patients must have had an extensive evaluation that did not result in a diagnosis
- The condition prompting the referral must be significant in terms of organ dysfunction, major symptoms, or loss of function
- Patients must be clinically stable and not in need of urgent evaluation and care.
- The duration of the condition must be six months or longer.
- The UDP medical staff, upon evaluation of the patient’s status, must determine that our resources and expertise offer the opportunity to reach a diagnosis, beyond what has already been done.
- The UDP is a clinical program, not a research program. As such, it is unable to provide free care, so clinical services associated with the program are billed in the usual way. The UDP staff will work with patients and insurance companies to obtain preauthorization for any consultations, tests, or procedures done as part of the patient evaluation and will work with patients who do not have health insurance on a case-by-case basis. There is no charge to submit medical records for consideration for evaluation in the program.
UAB Hospital first in Alabama to offer first-of-its-kind dissolving heart stent
The interventional cardiology team at UAB Hospital recently added to its longstanding reputation as a pioneer in the development and implementation of stents by becoming the first in Alabama to offer patients with coronary artery disease a new treatment option that disappears over time.
On July 20, Massoud Leesar, M.D., a professor in UAB’s Division of Cardiovascular Disease, implanted a patient with the world’s first FDA-approved dissolving heart stent for the first time in Alabama. The Absorb bioresorbable vascular coronary stent is a major advance in the treatment of coronary heart disease, which is responsible for about 370,000 deaths each year in the United States, according to the National Heart, Lung, and Blood Institute. This type of stent has been in the making for nearly 15 years.
While stents are traditionally made of metal, the Absorb stent is made of a naturally dissolving material called polylactide, similar to dissolving stitches or sutures.
“Since the Absorb stent gradually dissolves, this may be a safer long-term option for patients because metal stents can clot and occlude the artery,” Leesar said.
The stent is placed into the artery on a balloon at the end of a thin flexible tube, much like the procedure used to place bare metal and drug eluting coronary stents. It is then expanded by inflating the balloon that pushes the plaque against the artery wall to enable greater blood flow. The balloon is removed, leaving the Absorb stent to slowly release medication to the diseased area. With blood flow restored, the stent begins dissolving.
After Absorb dissolves, it allows the artery to pulse and flex naturally. It may also reduce the risk of future blockages that occur with metallic stents, and makes it easier for doctors to offer additional interventions in the future if necessary. During the dissolving period, Absorb metabolizes into water and carbon dioxide, two elements that occur naturally in the body. All that remain in the artery are two pairs of tiny metallic markers that enable a physician to see where the device was placed. After three years, the device is completely dissolved and the vessel can remain open and pulsate on its own.
Calvin Burnett of Albertville, Alabama, is the first patient in the state to receive the new Absorb stent. After Burnett was diagnosed with rectal cancer in September 2015, his oncologist recommended he see a cardiologist at UAB following complaints of tightness in his chest.
“I’ve always been kind of physically active, so this kind of threw me for a loop,” Burnett said.
Two days after his stress test, an Absorb stent was placed. Burnett says he is grateful that medicine has come so far.
“I think this is such a great thing,” he said. “I’m looking forward to getting back to riding horses.”
Burnett says he could not imagine having his procedure done anywhere other than at UAB.
To ensure optimal patient selection and implant technique, UAB’s interventional cardiology team underwent extensive training on the new device.
“One of the advantages of this new stent is that the risk of a metal stent’s suddenly clotting is a major issue long-term,” Leesar said. “Since the new stent dissolves over time, this risk can be eliminated, and the vessel has the potential to be open more than to before with the stent.”
Currently, patients who receive the new dissolving stent will have to meet certain criteria. Leesar suggests patients talk with their cardiologists to see if they meet those criteria, and to learn more about the Absorb stent and its capabilities.
Source: UAB News