In 2019, avid cyclist and strength trainer Robin Goble noticed a shift in her health. Not only were her long bike rides leaving her more winded, but even walking around her gym caused shortness of breath and fatigue. As the year progressed, so too did Robin’s symptoms, and she faced increasing instances of vertigo, headaches and fatigue.

Robin’s tipping point to seek medical care came when she experienced double vision while driving in her neighborhood. A monthslong hunt for answers culminated in Robin undergoing an MRI in July of 2020, which showed high levels of inflammation around her brain, brainstem, spine and eyes. She was immediately admitted to The Johns Hopkins Hospital, where after five days of thorough testing, Robin received her diagnosis: neurosarcoidosis — a rare subset of sarcoidosis that causes inflammation in the nervous system, which includes the brain, the spine and nerves.

Affecting up to 200,000 individuals in the United States, sarcoidosis occurs when overactive immune cells group together in the body to form lumps known as granulomas. These granulomas are most commonly seen in the lungs and lymph nodes, but can occur in any organ, and cause scarring, inflammation and tissue damage wherever present.

Goble, and other patients with neurosarcoidosis, often experience generalized symptoms such as headaches, vertigo, weakness and sensory issues, leading to difficulties in diagnosis.

“At the time, it was scary receiving this diagnosis of neurosarcoidosis,” says Robin. She was also diagnosed with pulmonary sarcoidosis, which affects her lungs. “But I am so grateful to be near world-class health care at Johns Hopkins. The doctors, residents, medical students and nurses were amazing, and I love the coordination of care I receive here.”

After her inpatient stay and diagnosis, Robin was enrolled as a patient at the Johns Hopkins Sarcoidosis Center. Here, she received a care team consisting of sarcoidosis experts across Johns Hopkins Medicine, including clinicians from the neurology, cardiology, ophthalmology and pulmonary divisions. The team helped lower her initial nervous system and lung inflammation after her diagnosis, and they continue to monitor her sarcoidosis through regular checkups.

“Sarcoidosis is not a traditional or typical disease,” says Carlos Pardo-Villamizar, M.D., one of Robin’s clinicians and a professor of neurology at the Johns Hopkins University School of Medicine. “It can affect the heart, brain, lungs, lymph nodes and other organs, so we need to make sure we’re targeting the right issue or treatment in our patients. To do this, we have to have a coordinated effort across multiple areas of expertise; and because sarcoidosis is a chronic, evolving disorder, such effort should be sustained over time.”

Robin says, as of today, her symptoms are mostly manageable through medication, nutrition and mindfulness exercises. Robin also says support groups have been helpful — she joined one for people with sarcoidosis through the Johns Hopkins Sarcoidosis Center. She emphasizes that having a community of patients to speak with and learn from has been helpful in managing the emotions of having sarcoidosis, and neurosarcoidosis in particular. 

Robin has also recently become involved with the patient advocacy group in the Johns Hopkins Sarcoidosis Center, which works to plan events and raise awareness of the condition. They have an upcoming conference and patient education event at Johns Hopkins Medicine in August.

“Sarcoidosis is an invisible condition — I may look fine on the outside, but on the inside I’m not,” says Robin. “That’s why rare disease and sarcoidosis advocacy is so important, because it goes beyond just a diagnosis. It takes support systems and making people aware of what’s going on with a disease to make a difference.”