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Christine's Journey: The Fight for a Dual diagnosis
My Journey with Familial Partial Lipodystrophy
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.
Early Symptoms and Misdiagnoses
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.
The Weight Gain and Muscle Hypertrophy
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.
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.
The Struggle Intensifies
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.
Seeking Answers
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.
Finding My Community
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.
Moving Forward
While my primary care physician and cardiologist are local, I now see all other specialists at City of Hope. The drive is worth the exceptional care I receive. 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. My rare diagnosis underscores the need for more research and awareness of lipodystrophy and I hope to serve as an inspiration for others to share their story.
Thank you for reading my journey. Together, we can bring more awareness to rare diseases like lipodystrophy and improve the chances of early diagnosis and better treatment for all.
Anne L, diagnostic journey
My name is Anne L, and I was diagnosed with lipodystrophy at age 43. It took years of relentless searching and determination to get to this point. My symptoms began in my late teens, and the journey has been long and challenging. I have moved from doctor to doctor for many years, refusing to give up.
One of the biggest challenges I've faced is the abnormal distribution of fat in my body. Fat accumulates in my neck, upper back, armpits, and behind the abdominal wall. This has caused chronic pain in my neck, likely due to fat pressing on nerves, and has severely limited my mobility. Muscle hypertrophy is another issue; my muscles are always tense and contracted, making it hard to relax. They are so strong that my body easily gets out of alignment, particularly my back and rib cage.
The physical discomfort is difficult, but the emotional toll has been the hardest. The way I look now makes me very sad and self-conscious. I often cry when I see myself in the mirror, remembering a time when I felt beautiful. People stare at me, awed by my muscles and sometimes even jealous, but they don’t see the disease causing it.
On top of this, I deal with multiple autoimmune issues, including celiac disease, Grave’s disease, borderline Hashimoto's, gastroparesis, type 2 diabetes, and psoriasis. It’s a lot to handle, but I stay hopeful.
My mother experienced similar symptoms and health issues, many of which contributed to her early death. This drives me to manage my symptoms better and take preventative steps she didn’t know to take. Much more needs to be done in the treatment and awareness of rare diseases like lipodystrophy. During my search for a diagnosis, many endocrinologists didn’t know what was wrong with me. Lipodystrophy is so rare that it’s not the first condition that comes to mind.
Finally, I found a specialist and had a virtual appointment recently. It was a huge relief to talk to someone who understood me. I no longer felt like I was crazy trying to describe my issues to doctors who didn’t get it. I wish lipodystrophy were more well-known so others could find answers more quickly and not spend years searching like I did. Early diagnosis means more opportunities to manage the condition and maintain a healthy lifestyle.
Increased awareness and attention to this disease can lead to better understanding and more treatment options. Currently, leptin treatments are available in the US but not approved for partial lipodystrophy, making them inaccessible to me. Despite these challenges, finally putting a name to my condition has been comforting.
I remain hopeful that with more awareness and research, better treatments will become available. My journey has been tough, but I hope it inspires others to keep searching for answers and never give up.
