Julie Raskin: CHI is thrilled to learn that you have been given an endowed chair at Cook Children’s. This is very exciting and a great step forward for the whole field. Congratulations! What will this mean for your work and the future of the Cook Children’s Hyperinsulinism Center?
Paul Thornton: Yes, this is a very exciting time for me and our institution. I am excited that Cook Children’s Medical Center is committed to providing the latest and best quality of care for infants and children with hyperinsulinism (HI). As you are aware, to build a multi-disciplinary team to manage these babies is a huge financial and time commitment. This commitment started in 2010 and has led to a formal application to the Federal Drug Agency (FDA) to perform 18FDOPA PET scanning. Now, with the endowed chair, Cook Children’s is making an even greater commitment to the program to support research and teaching. Cook Children’s is a not-for-profit, integrated health care system, and is not part of an academic center. So, to make this kind of commitment is incredible, because as you know, there is only one other HI team like this in the United States.
Not only will we be able to provide the latest in technological care to babies, but we intend to be the preferred center for HI care in the southern and western United States, providing families with an alternative to traveling to Philadelphia. When you consider that Cook Children’s is also the home of a unique 106-bed Neonatal intensive Care Unit (NICU), where every room is a single room with space for the parents to stay with their child 24 hours a day, our HI center will provide leading-edge therapy and family-centered care.
Julie Raskin: We understand that you are developing the capacity to perform PETscans at Cook Children’s in order to better diagnose the presence of focal disease in HI patients. Can you please share with our readers any news on this development?
Paul Thornton: As you are aware, 18FDOPA, the agent used to differentiate focal from diffuse disease, is not even an approved drug by the Federal Drug Agency (FDA). Therefore, in order to use it, we have to go through the same process that a company like Pfizer does to develop a new drug, which means we need to file an investigational new drug application (IND). Basically this means that we will be using 18FDOPA under research protocols. As you can imagine, this is both time-consuming and very costly. I am working with our partners to develop a better method to make 18FDOPA offsite and shipped to us. Our preliminary work is almost complete and we expect to file with the FDA in four to six weeks. If all goes well, we will be ready to scan our patients in the summer of 2013. This has been a huge undertaking by Cook Children’s, the research team, and our partners, particularly as the FDA changed the rules when we were about to submit one year ago.
Julie Raskin: Tell us a little more about the Hyperinsulinism Center at Cook Children’s. Is your center both a research and treatment center?
Paul Thornton: Since we started in 2010, we have now seen more than 30 children referred from Texas and our neighboring states of Oklahoma, Louisiana, New Mexico, Alabama and Florida. In the past, inpatients with focal disease were transferred to Philadelphia for PET scanning. However, with our anticipated availability of 18FDOPA PET by summer 2013, we will be a full-service HI center.
In addition to newborns, we are a referral center for the very rare (1 per million) older children with insulinomas (insulin secreting tumors of the pancreas). We have one of the most up-to-date interventional radiology suites where tumors can be localized by performing pancreatic arterial calcium stimulation tests (very similar to differentiating focal from diffuse disease in infants years ago). So far, we are 100 percent accurate in localizing the tumors and removing them and we have cured the patients and eliminated the risk of diabetes.
From a nursing perspective, we have patient rooms in the NICU dedicated to HI babies and nurses specifically trained to care for these infants. This means that when families come here, they will work with dedicated and knowledgeable nurses familiar with caring for HI babies. We also have a dedicated feeding team to assist in the development of age-appropriate feeding and prevention of G-tube dependence, even in babies with diffuse disease.
With regard to research, my endowed chair funding allows me the time and resources to undertake research. We currently have several research protocols underway with approval by our IRB with our 18FDOPA protocol completing review. I recently won a two year grant to cover the cost of a research nurse, who works very closely with my HI nurse (soon to be an HI Nurse Practitioner). We are working on a study to show how the recent American Academy of Pediatrics guidelines for the management of hypoglycemia in infants is currently under-diagnosing babies with transient hyperinsulinism. Our work has been accepted for presentation at the upcoming Pediatric Endocrinology Society and the SPR meetings.
In addition, I have received private funding to assist in the development of the 18FDOPA project and, with the assistance of a research grant writer, am looking at additional funding opportunities. We also have a manuscript on hypoglycemia presenting in the emergency room (ER) and how new diagnostic algorithms will lower the cost and improve the diagnosis rate of infants and children with hypoglycemia. This pathway detects late-presenting infants with HI who may come to the ER with hypoglycemia seizures. This data was presented to our peers last year and is ready for journal submission.
Julie Raskin: What should families expect when they come to Cook from out of town?
Paul Thornton: First of all, we have a nationally recognized transport team experienced in transferring HI patients. We are the only NICU that provides single rooms for patients allowing families to have a more pleasant, more private experience. There is also a nearby Ronald McDonald House where families can stay, as well as extended stay hotels right in the neighborhood. We have a concierge department that makes travel and hotel arrangements for families. We are really a very family-oriented institution. We even have daily patient-centered rounding and because we are not a research institution, the focus is really on making the patient stay as comfortable as possible in addition to providing the best treatment. As I mentioned above, the fact that we are a multi-disciplinary center, where all facets of care are provided by HI specialists from endocrinology, to surgery, from feeding specialists to occupational therapy, etc., leads to better outcomes for our HI patients.
Julie Raskin: Why did you decide to specialize in congenital hyperinsulinism? What propels you in your work?
Paul Thornton: I was very blessed to work at The Children’s Hospital of Philadelphia in 1989 with Dr. Lester Baker and Dr. Charles Stanley. At that time, they were recognized as two of the top three physicians in the world caring for children with HI. In 1993, I met Dr. Albert Aynsley-Green, the third leader in HI. All three encouraged my interest in this disease and encouraged me to take the lead and advance the care of these HI babies for the next generation.
During my fellowship in pediatric endocrinology, I focused my clinical attention on hyperinsulinism and worked on different clinical problems. Over the years, I realized that with HI being a rare disease, families learning more about HI and how dangerous it is, drove me to work harder to help these families. As I developed relationships with families and followed their children for years, I realized they needed a multi-disciplinary team to better assist them. Thus, in 1999, with Dr. Stanley and Dr. Adzick, we formally developed the first HI center in the United States, where I served as the clinical director. We realized that this would help us provide better care and more importantly, learn more about HI. This was the beginning of my mission to educate fellow endocrinologists and neonatologists about this dangerous condition.
Now, as I see those first children grown up and in college, I am proud to have been part of the progress in the care and research of HI patients. I am very excited to have also set up the second HI center in the United States and to be working very closely with the five other major centers in the world in the United Kingdom, Paris, Berlin and most recently Australia. There is a lot of work to be done in the United States, and I am excited to continue this work here at Cook Children’s.
