My name is Christine, and I am 56 years old. In September 2023, I was diagnosed with Familial Partial Lipodystrophy, Type 2. This diagnosis came after years of searching for answers, initially seeking a diagnosis for Cushing’s disease. My ENT once told me I was a walking poster child for Cushing’s.

About the Author

My symptoms began in my late teens with severe, stabbing pains on my left side. After visiting a gynecologist, I was diagnosed with Polycystic Ovarian Syndrome (PCOS). This was long before the internet, so I had little information about my condition. Despite being of normal weight for my age and maintaining an athletic lifestyle through track, tennis, gymnastics, and horseback riding, I struggled with my health. As a child, I had always been overweight and was constantly on some diet imposed by my mother. However, during high school and my early 20s, I became muscular, prompting friends to suggest bodybuilding. Despite the pain, I carried on with life, accepting the irregularities of my menstrual cycle, which eventually stopped altogether for a decade.

In recent years, my health deteriorated further with uncontrollable blood sugars, fatigue, a hump on my back, digestive issues, chronic bronchitis, and pneumonia. I had never taken so much time off work. In December 2022, during the busiest retail season, my regional manager urged me to prioritize my health. I took a year leave of absence and consulted various specialists, including a pulmonologist, rheumatologist, neurologist, and cardiologist, all of whom ran numerous tests but found nothing conclusive. My primary care physician’s blood tests showed high sugars, elevated cholesterol, and low vitamin D levels, adding to my frustration.

Desperate for answers, I considered the possibility of mold in my house, but my plumber brother found none. We even questioned if I was allergic to my cat, which an ENT ruled out. The ENT suggested testing for cushing’s, which led me to an endocrinologist. Despite negative urine and saliva tests, a surgeon ordered further tests, including an MRI and adrenal scan, revealing bilateral adrenal adenomas. This discovery led me to UCLA for adrenal vein sampling, only to be told I did not have Cushing’s but should investigate lipodystrophy.

Disheartened, I turned to Facebook, where I discovered the Lipodystrophy United and Living with Lipodystrophy communities. Through their support, I found Dr. Salehian at City of Hope in Duarte, California. He quickly scheduled an appointment, conducted extensive tests, and confirmed I have both familial partial lipodystrophy, type 2, and an acquired form, making me a very rare case.

My mother passed away in 2000 at the age of 49 from heart and liver failure. Knowing what I know now, I suspect her death was related to complications of lipodystrophy. My gynecologist was baffled by my absent periods, my primary care physician criticized me for not losing weight, and my endocrinologist prescribed metformin and sent me to nutrition classes, all to no avail.

Approaching my 30s, I began to gain weight, but only around my middle. My legs and arms remained muscular, giving the appearance of someone who spends hours at the gym, which I didn’t. I relocated for work, started a new life, and remained active with my horses, riding five days a week and hitting the gym regularly. Despite my efforts, the weight around my middle persisted. People often commented on my muscular calves, unaware of the genetic truth behind my physique, which mirrored my mother’s.

Though there may not be a cure in my lifetime, I am committed to participating in research and sharing my story, hoping it will help others in the future.

Though there may not be a cure in my lifetime, I am committed to participating in research and sharing my story, hoping it will help others in the future.