Polyphagia, polydipsia, polyuria. At age 19 as a junior in college, I didn’t know that I was presenting with three very classic symptoms of type 1 diabetes (T1D) — frequent hunger, thirst and urination. People with T1D are most frequently diagnosed during their early adolescence, so to be diagnosed at 19 years old was later than usual. It's possible that I had been experiencing destruction of the beta cells in my pancreas (the cells that make insulin) for several years, which led to my acute onset of symptoms and subsequent diagnosis.
Over 30 years later, I am now a physician-investigator, having spent 17 years directly caring for patients as an endocrinologist while also spending nearly two decades in pharmaceutical research and development. I now lead the clinical development group for Vertex Cell and Genetic Therapies (VCGT) and am responsible for our programs in hemoglobinopathies, muscular dystrophies and, particularly relevant to myself, T1D.
In type 1 diabetes, the cells in the pancreas that produce insulin are destroyed, leading to insulin deficiency and abnormal glucose regulation. When I was diagnosed, I had already made the decision to become a physician. Through the years, living with T1D has shaped me as an individual; I recognized the importance not only of practicing clinical medicine, but also of advancing medical research. It was very clear to me that if people didn’t work to discover and understand diseases, new products and therapeutics, I wouldn’t be here today. My diagnosis of T1D has also allowed me to empathize with patients in a way I don’t think I would have otherwise experienced.
My family and T1D
I am also an identical twin, and throughout our lives we’ve shared countless similarities — right down to our genes. Suddenly at 19, I was experiencing one big difference. A chronic, metabolic disease: T1D. When I was diagnosed, my twin was tested and did not have T1D. But not surprisingly, several decades later, my brother was also diagnosed with T1D. This is pretty consistent with data from studies in T1D on identical twins.
Scientists have studied identical twins who have T1D to better understand the contributions of both genetics and environment to its development. In the first few years of one twin having the disease, there’s about a 30% to 50% chance (this is known as concordance rate, or the percentage of pairs of twins or other blood relatives who exhibit a particular trait or disorder) that the other twin will also have T1D. But interestingly, as you follow twins for many years, the concordance rate increases substantially.
Children of individuals with T1D also have an increased risk of having T1D. As a parent of three, I was hyperaware that my children could also develop T1D. My oldest daughter, now 16, was diagnosed just before her fifth birthday. One night back then, I noticed some potential symptoms and considered checking her blood glucose (aka sugar). The next day after a dinner out, I saw the symptoms again and this time measured her blood sugar, which read over 500 mg/dL (normal 2-hour post-meal blood sugar levels are less than 140 mg/dL). My wife and I brought her immediately to the local emergency department (ED). Luckily, because we caught my daughter’s T1D early and we were able to make sure the ED was ready, she was able to be discharged the next day and avoided getting admitted for diabetic ketoacidosis (a serious complication of the disease). Unfortunately, this is often not the case, and children with T1D often spend a few days in the hospital when they are diagnosed.
Researching T1D as a member of the patient community
As a member of the patient community and an expert in endocrinology, I have been involved with and closely followed T1D research and treatment evolve over the last few decades. I remember waiting at least a minute to read my blood sugar level — now it takes only 5 seconds. I remember having to measure my blood sugar up to eight times a day — now with continuous glucose monitoring, I almost never have to stick my finger to measure my blood sugar. I started off giving myself multiple (6+) daily injections of insulin — it wasn’t until 10 years later that I switched to an insulin pump. And over a year ago, I started using a hybrid closed loop system — now, my continuous glucose monitor directly interacts with my insulin pump and can adjust my insulin rates nearly automatically, which has dramatically improved my quality of life.
Despite all the improvements, it’s still a tremendous amount of work and mental energy to manage the upkeep of those systems and to always be tethered to a monitor and pump. Having T1D carries with it a heavy burden of disease management. Some describe it as a full or part-time job. It takes 24/7 effort to be thinking and calculating your blood sugar — at every meal, every night going to sleep, every time you exercise, every time you feel sick. And while about half of patients with T1D like me achieve target blood sugar levels, many patients do not.
Vertex's T1D community
A few months after I started at Vertex, David Altshuler, Vertex’s Chief Scientific Officer and fellow endocrinologist, and I had a conversation about potential therapies for T1D. We decided to put together a team to look into T1D as a potential disease of interest, and that began our quest to use an innovative cell therapy approach to attempt to tackle this disease. When I joined Vertex, I had no idea that less than a year later I would be working on the very disease that I had not only treated for many years, but that I had myself.
It’s also motivating to know that I am working on this disease alongside other colleagues who are part of the T1D community, like Randall Thompson, Director of GMP Operational Quality, whose son has T1D.
“As a scientist, my son always asked me if I was working on a treatment for him, and I could never really answer that question,” said Randall. “The day I got my offer letter for Vertex was a milestone day for me because I was finally able to answer that question for him. I showed him my letter and told him what it meant, and he gave me the biggest hug. I feel like I’m where I’m supposed to be right now. Even though I don’t work on the program directly, it’s just so rewarding to listen to the bright people who work here, and the passion people have for this program.”
We at Vertex work on many different serious diseases with the ultimate goal of finding treatments, and every disease has patients who are waiting. With T1D, we may have the opportunity to impact many patients, like Randall’s son, my daughter, and countless others, including me.