When Kelli Williams, M.D., MPH, a pediatrician at the Medical University of South Carolina, got the letter inviting her to be Center Director for the Jeffrey Modell Diagnostic & Research Center at MUSC Health, the first thing she did was to text her mentors. “I thanked them for their support and guidance and giving me the ability to impart this care and impact the lives of patients with primary immunological diseases,” says Williams who is subspecialized in Allergy and Immunology. “Ever since I came to MUSC, I’ve wanted to build a program that provides the patient-centered care these patients require and deserve. It’s an extraordinary opportunity to establish a program on par with the cream-of-the-crop in the world. And it means a lot to me personally to know that others in the field recognize what we’ve been doing and want us to keep doing it,” says Williams.
The MUSC Health center joins the Jeffrey Modell Foundation (JMF) network of over 400 programs at academic medical institutions in 87 countries with 42 located at major children’s hospitals across the United States (US). The Foundation’s goal is to facilitate early, precise diagnosis of primary immune deficiency disorders (PIDDs) in children and adults and their appropriate, meaningful treatment.
“This distinction makes it clear to the world that MUSC Health is a Center of Excellence and a ‘go to’ referral location for very sick and specialized patients with rare immunologic conditions. For patients in the southeastern US with these rare diseases, this is the place to come for care,” says Williams.
According to the National Institute for Allergy and Infectious Diseases (NIAID), there are now over 400 known rare, genetic disorders that impair the immune system and affect an estimated 500,000 people in the US. Primary immunodeficiencies may be diagnosed in infancy, childhood, or adulthood, depending on their severity, and some PIDDs are fatal. Patients with PIDD lack a fully functional immune system, making them vulnerable to chronic, debilitating, and potentially lethal infections and putting them at high risk for several types of cancer.
While stem cell and bone marrow transplants can be curative in some cases, patients also often need complex regimens of prophylactic antimicrobials and other treatments including immunoglobulin replacement therapy. “Immune disorders often affect multiple organ systems, and this can be complicated from a clinical management standpoint. It requires a lot of grit from a staffing standpoint to offer multi-disciplinary care. Additionally, it takes a lot of effort and time to fight with insurance companies to cover the costs of the care these patients need,” says Williams.
Although Williams was already recognized as one of the Foundation’s 915 Expert Physicians worldwide, leading a designated JMF center will provide additional financial support and allow MUSC Health to expand services. “For several years, our clinic has been providing immunological services with just myself working full time, a part-time allergist-immunologist (Dr. Streck), and limited nursing,” says Williams. “We recently added another full-time allergist (Dr. Campbell) and currently see about 100 immunology patients a month. The program provides care for the whole state of South Carolina and neighboring areas in North Carolina and Georgia.”
In addition to treatment, JMF funding will also be used to improve PIDD diagnosis and testing and the clinic’s ability to meet the high referral demand. “We hope to hire a program coordinator to give patients easier access to the multi-disciplinary care they need. For example, the coordinator can help them get all or most of their visits scheduled on the same day or consecutive days, which is important because many patients drive long distances to see us.”
Next steps also include hiring a full-time, dedicated immunology nurse and additional physicians who have specialized training in immunology. “We get referrals from hospitals all around the region,” says Williams. “The challenge is getting our patients–children and adults–seen more quickly. My goal is to create a faster flow for getting them seen, tested, and diagnosed.”
As part of the JMF network, the MUSC Health center will also have more opportunities to collaborate with institutions around the world on multi-center research projects. This is a great benefit for patients who can often secure early access to cutting-edge therapies through research participation.
Fortunately, the field of immunological treatment is currently experiencing rapid growth. “We’re able to practice more ‘precision medicine’ because of improved genetic testing that allows us to identify the genetic defect causing a condition. Drug companies are then able to produce therapeutics that can target particular pathways,” explains Williams. “The genetics of clinical immunology has really exploded recently. It’s an exciting time to be a clinical immunologist because we have a greater understanding of what is causing diseases and can be creative with the therapeutic options we offer patients.”
It’s common for PIDD patients to try multiple different treatments over time. Some may not work for them at all, while others may work for a period of time before tapering off or have intolerable side effects. For these reasons, and because PIDDs are rare diseases, patients are often interested in trying a new therapy in the hope that it will be a good fit for them.
For her part, Williams hopes to help as many people with a PIDD as she can reach. “I want referring providers to know that when they refer a patient to me, I will use every tool in my very specialized skill set to help diagnose and treat them,” says Williams. “We are experienced in taking care of rare immunologic diseases and we want the whole state, and the Southeast region, to know that we are providing world-class care for these complex patients here at MUSC Health.”
