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.
High-tech Simulators Boost UAB Emergency Department CPR Training
University of Alabama at Birmingham Hospital Emergency Department has acquired two high-tech simulators from the American Heart Association to enhance training for nurses and other emergency department staff on the fine points of proper cardiopulmonary resuscitation.
UAB is the fifth hospital in the United States and the first in Alabama to acquire the technology.
“Emergency department staff at hospitals across the country are required to undergo CPR recertification every two years, but studies have shown that their skills begin to degrade the moment the training session ends, and most people have lost effective skills within 90 days,” said Michael Kurz, M.D., associate professor in the Department of Emergency Medicine. “The new simulators allow us to approach CPR training in a whole new way, and we are seeing remarkable improvement.”
The machines, called RQI or the Resuscitation Quality Improvement system, consist of two sophisticated mannequins — one adult and one pediatric — attached to an even more sophisticated computer system. The machines measure all the variables involved with performing CPR and provide instantaneous feedback as a staff member is practicing.
The RQI machines are housed in the emergency department, which means staff does not have to take time off from work to attend a CPR class. The new training regimen calls for nurses and patient care technicians to undergo 10-minute updates every three months, using different modules that work on different skill sets. The computer records trainees’ performance and tracks their improvement over time. It even records whether trainees have placed their hands in the proper position on the mannequin.
“The machine measures variables such as depth of the CPR compression, the rate and the recoil, and the trainee can see on the screen whether they are reaching the appropriate benchmarks in these areas,” said Michael Lovelace, R.N., an emergency department nurse and lead CPR trainer.
Kurz, who is the vice chair for the Systeims of Care subcommitee for emergency cardiovascular care commitee with the Heart Association, says training every three months rather than at two-year intervals has made a significant difference.
UAB is only the fifth hospital in the nation to have the RQI machines and the first in Alabama. Kurz, who is the vice-chair for the Systems of Care sub-committee for emergency cardiovascular care committee with the Heart Association, says training every three months rather than at two-year intervals has made a significant difference.
“Retention of the skills is better; performance is better,” Kurz said. “One important variable is chest compression fraction, which measures the efficiency of the CPR. Since we began using the RQI machines in June 2015, our overall scores for chest compression fraction have improved 14 percent.”
Kurz says there are five main variables the machine tracks, and he is pushing for the emergency staff to reach a collective average score of 90 on each variable.
“For example, before we began using the RQI machines, our chest compression fraction score was about 72,” he said. “It’s now up to 86, and we should hit 90 in the near future. The RQI machines are having a major impact on enhancing our clinical care.”
Better CPR skills means a better chance of survival for patients with cardiac arrest, and not just in the emergency room. Last spring, UAB Hospital emergency nurse Tamicka Jones was at the Atlanta airport when she saw a group of people attempting to assist in man in obvious distress
“The man’s face was gray, and he had no pulse,” Jones recalled. “I was the only medical professional present, so I began CPR and called for a defibrillator. Training on the RQI machine meant that my skills were sharp, and I had confidence that I was performing CPR at a high level of effectiveness.”
Jones performed CPR and delivered a shock from the defibrillator until the arrival of an EMS crew. She has since heard from the man’s family that he survived.
“Using these machines really changes the paradigm of how we teach and practice CPR,” Kurz said. “This is the largest change in our approach in over 60 years and really brings CPR training into the modern era.”
Source: UAB News