Diva De León-Crutchlow, MD, MSCE, assumed the role of Director of the Congenital Hyperinsulinism Center in 2013 and was named Chief of the Division of Endocrinology and Diabetes in 2018. She earned her MD from the University of Panama School of Medicine, Panama City, Panama, completed her residency at Monmouth Medical Center, Long Branch, NJ, and her fellowship at Children's Hospital of Philadelphia. She is a professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
What drew you to pediatric endocrinology?
I was inspired to work with kids because of the strength and resilience I saw in my interactions with patients during my medical school rotations. In Panama, after med school, you do a two-year rotating internship. During my second internship year, while rotating at a small town’s hospital, I admitted a teenager who had come in through the ED and was diagnosed with potential meningitis. She had been vomiting and was dehydrated. After talking to her and her family, it occurred to me that she may have diabetes, which was the case. This was a small town, where diabetes was very uncommon, so the ED doctor didn’t think of it as a possible diagnosis. I gave her insulin, and soon she began to get better. That really solidified my interest in endocrinology. I started thinking of endocrinology in those terms: You have a patient with a problem, you make a diagnosis, and you can restore health by replacing what’s missing in that patient, in her case, insulin.
How did hyperinsulinism become a focus?
After residency, I wanted to do diabetes research, so I looked for hospitals with large diabetes programs for my endocrinology fellowship; CHOP had one of the biggest. It was a very busy first year. That’s when I saw patients with hyperinsulinism for the first time and got to work with those families and with Dr. [Charles] Stanley. I still wanted to do diabetes research, so I joined a lab in my second year to train in laboratory research. I continued to have clinical interest in hypoglycemia and did some research with Dr. Stanley. Many of the things I learned about diabetes also applied to hyperinsulinism. It all came together for me — hyperinsulinism patients who need better treatments, the skills I had acquired, clinically and in the lab, and how I could put them to use to help HI patients.
Listen to Diva DeLeón-Crutchlow, MD, MSCE Interview with Madeline Bell
Tell us about the Congenital Hyperinsulinism Center.
What has set the center apart from the beginning is the drive and the commitment of those involved — from Dr. Lester Baker in the 1970s, to Dr. Stanley, who trained under him and then took it to the next level when molecular genetics was starting and there were genes to be discovered. And we have the commitment of the institution, to support our work, to create the center and to bring in the additional people we needed to be the comprehensive, interdisciplinary center we are today. You can trace all the discoveries that have made the treatment of HI better over time to things done at CHOP first: genetics; developing and implementing the use of 18F-DOPA to finding focal lesions to perfecting the surgical techniques to excise those focal lesions to cure those patients.
[Surgeon-in-Chief] Dr. Scott Adzick, who came to CHOP in 1995, has been doing all the surgeries, which is very unusual. If you have multiple people doing surgeries once every 3 or 6 months, they won’t develop that expertise. Our whole HI team — radiology, surgery, endocrinology — comes together to discuss every single case. The collective experience is outstanding, as is the collaboration to decide the best approach for every patient.
We incorporate families in the decision, too. I always tell families: You are part of the team. We are going to give you the information you need to participate in choosing what treatment is best for your child.
CHOP pioneered the 18-FLUORO-DOPA PET scan for patients. Does it matter where patients go for this test?
In the last several years, other institutions have done some 18-FLUORO-DOPA imaging for hyperinsulinism. What’s not always understood is that the test is only the first step. You also need the expertise to interpret it and to use that information for treatment, usually surgery. At CHOP, we’ve done more than 450 18F-DOPA PET scans now — far more than any other institution. That’s a unique expertise in terms of the sheer number of imaging studies and the resulting accumulated experience.
Our unique collective expertise is what delivers the outstanding outcomes we have had — treated more than 1600 patients and a 95% cure rate for focal cases. While our radiologist, Dr. Lisa States, has read hundreds of them, the PET is not interpreted in isolation. We add the knowledge of the clinical phenotype and the genotype. Similarly, when Dr. Adzick goes to the OR, he brings the collaborative thinking of the whole team to know what he’s going to look for and where. People think: I have a surgeon who can cut up a pancreas. But it’s so much more than that. We emphasize the multidisciplinary team.
18-FLUORO-DOPA tests are still provided under FDA research protocols. Here, the patients have the study in our Radiology Department. The radioactive compound is made in the cyclotron at the University of Pennsylvania, right next door, and delivered to us. So, our patients don’t need to travel anywhere else for the test.
CHOP sees more HI patients than any other center in the world. Why?
There are a couple of factors. First, we’ve been at the forefront of caring for these patients for more than 50 years. Second, because of our expertise, we attract a large volume of HI patients, which allows us to continue to grow in expertise. Our team’s experience also attracts referring physicians to send their patients to us. On top of that, we provide support to referring endocrinologists and neonatologists to help with the management of that child from the moment they reach out. Sometimes the information we share means the child doesn’t need to be transferred to CHOP because they don’t need the specialized care we provide, and that’s OK. We really want to find the best environment and the best treatment for that child. Pediatric endocrinologists know when they reach out to the HI Center, they’re going to get someone on the phone that day to help them with their case.
The HI Center is unusual in that it sees adult patients. Why?
Because hyperinsulinism is so rare, the knowledge of how to treat HI that we have at CHOP doesn’t exist in adult endocrinology. That’s why we are available to be the home not only of patients of pediatric age but also for adults who need continued treatment. We have made a commitment to provide that expertise, particularly for individuals who need continued treatment into adulthood. That is unique to our center. It also happens for other rare diseases here at CHOP.
Where does research fit into the mission of the HI Center?
Our hyperinsulinism research program is part of what we do. We look for the unmet needs of our patients; our projects are greatly informed by our patients. The goal is to bring those discoveries from the lab back to the patients. We have done that very well in a number of ways.
We’ve worked with industry by licensing our discoveries, plus we partner with pharmaceutical companies on every step toward clinical trials. We want to provide our patients with access to trials of new treatments for HI.
In the lab, a lot of effort is going into finding the mechanism of the disease in the 50% of patients who don’t have a mutation in one of the dozen or so known genes for HI.
What do you see for the future of the HI Center?
We have learned that each case is different, and therefore every child needs an individualized plan of care. The future is going to bring more tools, making the possibility of individualized treatment effective and possible. We are very good at curing kids with focal disease. However, there hasn’t been an ideal treatment for those who have diffuse disease and that are diazoxide unresponsive. The possibility of better, more effective therapy is within reach. We’re involved in all these research efforts with the goal of allowing us, one day, to treat diffuse patients without the need for pancreatomies so they will avoid the side effects later in life, most often diabetes and pancreatic insufficiency.
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Diva De León-Crutchlow, MD, MSCE, assumed the role of Director of the Congenital Hyperinsulinism Center in 2013 and was named Chief of the Division of Endocrinology and Diabetes in 2018. She earned her MD from the University of Panama School of Medicine, Panama City, Panama, completed her residency at Monmouth Medical Center, Long Branch, NJ, and her fellowship at Children's Hospital of Philadelphia. She is a professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
What drew you to pediatric endocrinology?
I was inspired to work with kids because of the strength and resilience I saw in my interactions with patients during my medical school rotations. In Panama, after med school, you do a two-year rotating internship. During my second internship year, while rotating at a small town’s hospital, I admitted a teenager who had come in through the ED and was diagnosed with potential meningitis. She had been vomiting and was dehydrated. After talking to her and her family, it occurred to me that she may have diabetes, which was the case. This was a small town, where diabetes was very uncommon, so the ED doctor didn’t think of it as a possible diagnosis. I gave her insulin, and soon she began to get better. That really solidified my interest in endocrinology. I started thinking of endocrinology in those terms: You have a patient with a problem, you make a diagnosis, and you can restore health by replacing what’s missing in that patient, in her case, insulin.
How did hyperinsulinism become a focus?
After residency, I wanted to do diabetes research, so I looked for hospitals with large diabetes programs for my endocrinology fellowship; CHOP had one of the biggest. It was a very busy first year. That’s when I saw patients with hyperinsulinism for the first time and got to work with those families and with Dr. [Charles] Stanley. I still wanted to do diabetes research, so I joined a lab in my second year to train in laboratory research. I continued to have clinical interest in hypoglycemia and did some research with Dr. Stanley. Many of the things I learned about diabetes also applied to hyperinsulinism. It all came together for me — hyperinsulinism patients who need better treatments, the skills I had acquired, clinically and in the lab, and how I could put them to use to help HI patients.
Listen to Diva DeLeón-Crutchlow, MD, MSCE Interview with Madeline Bell
Tell us about the Congenital Hyperinsulinism Center.
What has set the center apart from the beginning is the drive and the commitment of those involved — from Dr. Lester Baker in the 1970s, to Dr. Stanley, who trained under him and then took it to the next level when molecular genetics was starting and there were genes to be discovered. And we have the commitment of the institution, to support our work, to create the center and to bring in the additional people we needed to be the comprehensive, interdisciplinary center we are today. You can trace all the discoveries that have made the treatment of HI better over time to things done at CHOP first: genetics; developing and implementing the use of 18F-DOPA to finding focal lesions to perfecting the surgical techniques to excise those focal lesions to cure those patients.
[Surgeon-in-Chief] Dr. Scott Adzick, who came to CHOP in 1995, has been doing all the surgeries, which is very unusual. If you have multiple people doing surgeries once every 3 or 6 months, they won’t develop that expertise. Our whole HI team — radiology, surgery, endocrinology — comes together to discuss every single case. The collective experience is outstanding, as is the collaboration to decide the best approach for every patient.
We incorporate families in the decision, too. I always tell families: You are part of the team. We are going to give you the information you need to participate in choosing what treatment is best for your child.
CHOP pioneered the 18-FLUORO-DOPA PET scan for patients. Does it matter where patients go for this test?
In the last several years, other institutions have done some 18-FLUORO-DOPA imaging for hyperinsulinism. What’s not always understood is that the test is only the first step. You also need the expertise to interpret it and to use that information for treatment, usually surgery. At CHOP, we’ve done more than 450 18F-DOPA PET scans now — far more than any other institution. That’s a unique expertise in terms of the sheer number of imaging studies and the resulting accumulated experience.
Our unique collective expertise is what delivers the outstanding outcomes we have had — treated more than 1600 patients and a 95% cure rate for focal cases. While our radiologist, Dr. Lisa States, has read hundreds of them, the PET is not interpreted in isolation. We add the knowledge of the clinical phenotype and the genotype. Similarly, when Dr. Adzick goes to the OR, he brings the collaborative thinking of the whole team to know what he’s going to look for and where. People think: I have a surgeon who can cut up a pancreas. But it’s so much more than that. We emphasize the multidisciplinary team.
18-FLUORO-DOPA tests are still provided under FDA research protocols. Here, the patients have the study in our Radiology Department. The radioactive compound is made in the cyclotron at the University of Pennsylvania, right next door, and delivered to us. So, our patients don’t need to travel anywhere else for the test.
CHOP sees more HI patients than any other center in the world. Why?
There are a couple of factors. First, we’ve been at the forefront of caring for these patients for more than 50 years. Second, because of our expertise, we attract a large volume of HI patients, which allows us to continue to grow in expertise. Our team’s experience also attracts referring physicians to send their patients to us. On top of that, we provide support to referring endocrinologists and neonatologists to help with the management of that child from the moment they reach out. Sometimes the information we share means the child doesn’t need to be transferred to CHOP because they don’t need the specialized care we provide, and that’s OK. We really want to find the best environment and the best treatment for that child. Pediatric endocrinologists know when they reach out to the HI Center, they’re going to get someone on the phone that day to help them with their case.
The HI Center is unusual in that it sees adult patients. Why?
Because hyperinsulinism is so rare, the knowledge of how to treat HI that we have at CHOP doesn’t exist in adult endocrinology. That’s why we are available to be the home not only of patients of pediatric age but also for adults who need continued treatment. We have made a commitment to provide that expertise, particularly for individuals who need continued treatment into adulthood. That is unique to our center. It also happens for other rare diseases here at CHOP.
Where does research fit into the mission of the HI Center?
Our hyperinsulinism research program is part of what we do. We look for the unmet needs of our patients; our projects are greatly informed by our patients. The goal is to bring those discoveries from the lab back to the patients. We have done that very well in a number of ways.
We’ve worked with industry by licensing our discoveries, plus we partner with pharmaceutical companies on every step toward clinical trials. We want to provide our patients with access to trials of new treatments for HI.
In the lab, a lot of effort is going into finding the mechanism of the disease in the 50% of patients who don’t have a mutation in one of the dozen or so known genes for HI.
What do you see for the future of the HI Center?
We have learned that each case is different, and therefore every child needs an individualized plan of care. The future is going to bring more tools, making the possibility of individualized treatment effective and possible. We are very good at curing kids with focal disease. However, there hasn’t been an ideal treatment for those who have diffuse disease and that are diazoxide unresponsive. The possibility of better, more effective therapy is within reach. We’re involved in all these research efforts with the goal of allowing us, one day, to treat diffuse patients without the need for pancreatomies so they will avoid the side effects later in life, most often diabetes and pancreatic insufficiency.
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Congenital Hyperinsulinism Center