A Q&A with Transplant Specialist Olatundun Williams, MD
As a bone marrow and stem cell transplant specialist for children with primary immune deficiencies (PID) and primary immune regulation disorders (PIRD), Olatundun Williams, MD is an innovator in transplant approaches for these rare and potentially debilitating or deadly conditions. Below Dr. Williams shares her perspective on this rapidly evolving field of medicine.
What are immune deficiencies and immune dysregulation disorders, and how are they treated?
Primary immune regulation disorders (PIRDs) and primary immune deficiencies (PIDs) are rare genetic diseases that disable the body’s immune system. Because the immune system has trouble functioning or regulating itself, children with these conditions tend to develop problems such as inflammation, autoimmune conditions, and allergic conditions, and have difficulty fighting off infections. Over the past decade or so, we have witnessed the development of targeted therapies for some of these disorders, but transplantation is something that we can offer these patients beyond the limited arsenal of medicines, and, in some cases, has the potential to be a cure.
What types of immune deficiencies and disorders are treatable with transplantation?
We know that transplant outcomes can be very favorable in certain conditions including the classic immune deficiencies—disorders like severe combined immune deficiency (SCID), chronic granulomatous disease, hyper-IgM syndrome, and Wiskott-Aldrich syndrome. And we have good data on outcomes in specific primary immune regulation disorders—including immunodeficiency polyendocrinopathy X-linked syndrome (IPEX), hemophagocytic lymphohistiocytosis (HLH), and autoimmune lymphoproliferative syndrome (APLS). There are a number of other conditions that we can also treat through transplant, given each patient’s clinical circumstances. And the list of transplantable conditions keeps growing as the research community does more and more next-generation sequencing and discovers more of these disorders.
What does a transplant entail?
It starts with us identifying the best stem cell donor for a patient and collecting stem cells from that donor. A donor can be a family member or someone who is unrelated to the patient. Next, we prepare the patient’s body to receive the new stem cells. We usually do this with strong medicines like chemotherapy that make space for the new stem cells and also prevent the body from rejecting the stem cells. And then comes an exciting day- the day we give the patient their new stem cells. We give the cells through an IV and wait them to find a home in the bone marrow. The patient is usually in the hospital for a few weeks for all these procedures and also so we can monitor for any complications of the transplant.
How do patients generally do after transplantation?
Patients’ outcomes depend on a number of factors. In the best-case scenario a patient has a fully matched stem cell donor and ends up with a complete reversal of their phenotype. Other patients may have a partial reversal of their condition, which might both prolong their life and give them a better quality of life. And in some patients, the transplant doesn't take: they never engraft, or the graft fails, and we're unable to cure the condition.
Can you describe your role in more detail?
Transplant specialists often see patients who have a lot of medical comorbidities and complications, and who may therefore have a lot of other specialists involved in their care. So, one of the things that we get very good at is crossing between disciplines and coordinating care among multiple specialties. We keep the big picture in mind, in terms of what we're trying to achieve for each patient, craft our detailed transplant plan and invite in all of our relevant colleagues. Because we meet patients at the beginning of their care, then take them through their transplant, and continue to see them through their follow up, we have a really unique and long term relationship with each patient.
What inspired you to get into this field?
I've always had an interest in the immune system, since it impacts every aspect of our health. And over the course of my training I realized that transplanters form relationships with families that are really special. We are brought into our patients’ lives and families in such an intense way. A transplant can be an emotional and challenging experience for a patient and family, and being present for them through this is special. The intellectual aspects of this field are inspiring, too. Thinking about the mechanistic and physiological aspects of these disorders, how the stem cell transplant process works and how we can apply this knowledge to improving transplant outcomes is fascinating. For me it’s the marriage of a scientific perspective with the real impact transplant can have on my patients and their lives. Bringing the two together has been really gratifying.
