A 'not-so-rare' story in the journey of a rare disease diagnosis
(BPT) - In the year 2000, Lisa Wollman, a young, vibrant woman in the prime of her life, was pregnant with her second child, and like many expectant mothers, was experiencing changes in her mood and body. However, she knew something was not quite right. Lisa started experiencing anxiety and insomnia, which had not occurred during her first pregnancy. After visiting multiple doctors, Lisa was told her symptoms would subside post-pregnancy, however several weeks after giving birth, she began experiencing other unusual symptoms, including excessive facial hair growth, acne and depression. These signs and symptoms prompted further doctor visits ultimately leading to the diagnosis of Cushing’s disease, which affects approximately one to two people per million annually.
Cushing’s disease is a rare but serious, debilitating endocrine disorder caused by the presence of a non-cancerous pituitary tumor in the brain which ultimately leads to excess cortisol in the body. Cortisol is a vital hormone that regulates metabolism, maintains cardiovascular function and helps the body respond to stress. The excess cortisol circulating in the body can lead to many unwanted physical and emotional effects, including those Lisa experienced, as well as symptoms such as high blood pressure, irritability, high cholesterol, rapid uncontrollable weight gain, central obesity, a round, red full face and striae (purple stretch marks), among others. Symptoms can vary from person to person.
During the journey to diagnosis for many Cushing’s disease patients, doctors may look at, and treat, individual symptoms, resulting in a missed or delayed diagnosis of Cushing’s disease. In fact, the average time to diagnosis is six years from the time the patient first notices symptoms. In Lisa’s case, it took about eight months of proactively advocating for testing and visiting doctors before learning that she had Cushing’s disease.
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