Back in 2012, a Long Island resident, Rosemarie Sorge, was rushed to the emergency room with diabetic ketoacidosis. Diabetic ketoacidosis is a deadly condition that is characterized by an excess of ketones in the bloodstream, caused by a lack of insulin. These ketones are highly toxic and can create symptoms, like vomiting, diarrhea, abdominal pain, loss of consciousness, coma, and even death.
Sorge’s remained in a coma for 10 days. Her prognosis was grim, and she was given her last rites. But, Rosemarie survived, though she had to remain on dialysis for 23 days.
After waking up, the doctors reassessed her condition. Originally, Rosemarie was a type 2 diabetic and was re-diagnosed as a type 1 diabetic. When her dialysis treatments were complete, she was diagnosed with brittle type 1 diabetes, which is not officially recognized by modern medicine as a diagnosis. Brittle diabetes is a condition characterized by the patient’s inability to control their blood glucose level despite taking medication and treatment for their underlying diabetes diagnosis.
While it is not officially recognized since it has the same symptoms as typical diabetes, it’s much more difficult to manage. Furthermore, most physicians and endocrinologists believe that brittle diabetes is simply diabetes that is just difficult to manage. But, is it really just that, or does brittle diabetes actually require unique treatment to control the patient's blood sugar levels?
This question is currently stirring controversy among internists and endocrinologists, and Rosemarie’s father, Emanuel Sorge.
After her daughter’s brush with death, her father, a retired physiologist currently residing in Venice, Florida, came out of retirement and began intense research into diabetes. After reviewing almost 700 studies, and approximately 1,100 pieces of medical literature, Emanuel came to a startling conclusion: brittle diabetes is a real condition; it affects around 4,500, or 3 out of every 1,000 patients who are diagnosed with type 1 diabetes. The condition is characterized by daily, hourly, and even minute-by-minute problems in controlling blood sugar levels.
This discovery drove the physiologist to create the Brittle Diabetes Foundation in 2012, and through his efforts, the National Institutes of Health recognized the condition as a separate rare disease in 2013. According to the formal definition of the NIH, brittle diabetes is an offset of type 1 diabetes, which involves 18 secondary medical conditions, apart from the ones inherent to the latter. The NIH categorized it as a rare disease and listed Emanuel’s foundation as the main source of information and a key resource for those struggling with brittle type 1 diabetes.
It is important to differentiate brittle diabetes from other underlying conditions which complicate a preexisting diabetes diagnosis. For instance, Rosemarie was also diagnosed with celiac disease, which is the difficulty to process gluten, a protein found in wheat, barley and rye, and which could cause systemic complications if left untreated. In Rosemarie’s case, once she had her celiac disease under control, her diabetes symptoms became much easier to manage.
In an effort to raise awareness for brittle type 1 diabetes, Emanuel appealed to the American Diabetes Association with a request to recognize it as a unique condition. The ADA, however, responded by attempting to debunk his claims with the NIH. The NIH stated that they had updated the information on the disease to be consistent with the current scientific evidence, and removed the condition from their list of rare diseases. Additionally, they also advised Mr. Sorge that they do not, as an organization, categorize diseases. The fact that they provide information on brittle diabetes does not mean that the NIH endorses the condition as a distinct disease.
After much effort, the ADA began to recognize brittle diabetes as a condition, though they claim that it manifests in different ways in each person. Every person manages it differently and faces unique challenges in the process. The severe instability in the blood sugar levels of diabetic patients, which is often referred—correctly or otherwise—to as brittle diabetes, must be treated with a specialized diabetes care team.
And, due to the varied manifestations of diabetes, the ADA has consistently encouraged physicians and endocrinologists to issue personalized diabetes care plans to their patients. According to William T. Cefalu, the ADA’s chief scientific, medical and mission officer, it is one of the core tenets of the standards of care of the American Diabetes Association, which is also inherent in their treatment guidelines.
This news, however, was not received well by Mr. Sorge, who tried to repeatedly contact NIH director Francis Collins, as well as other officials, in order to restore brittle diabetes’ position as a rare disease on their website, with no results. He also petitioned President Donald Trump for help.
To this day, Sorge continues to lead a campaign to have brittle diabetes recognized as a unique medical condition, based on what he believes to be “overwhelming evidence”.
The topic has sparked interest in several experts, such as Erin Kershaw, the chief of endocrinology and metabolism at the University of Pittsburgh, who agrees with Sorge. Kershaw says that we live in an age of precision; or personalized patient-centered care, where diseases are no longer judged by textbook examples but are treated by studying the patient’s symptoms as a whole.
Everyone with diabetes is on a spectrum, Kershaw says, and some people are simply on the edge of said spectrum, where keeping the symptoms under control becomes problematic. However, these outcomes are to be expected in some cases and must be treated accordingly.