Lipodystrophy United Is Back! Please frequently visit our website to see updates!
Christine's JourneY
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.
About Living With Lipodystrophy Admin
Sonia Rehal
I am currently an educator at McMaster University in Hamilton, Ontario and the director for Lipodystrophy Canada, and non-for-profit organization supporting lipodystrophy patients and caregivers. Being a lipodystrophy patient myself, my advocacy for awareness started young. Interested in understanding the pathophysiology of lipodystrophy, my postdoctoral training focused on lipid inflammation and insulin resistance in animal models of obesity. This journey has allowed me to travel the world and publish important research findings in highly cited research journals. More importantly, my academic career has given me a unique perspective to patient advocacy, highlighting how important disease awareness and research funding for prospective treatments and are for our lipodystrophy community. Lipodystrophy can vary in severity however these themes hold in common: Lipodystrophy is incurable, has inadequate medical treatment and affects multiple organ systems. Unfortunately, a severe form of lipodystrophy has affected my family and myself, losing both my mother and sister to its complications at a very young age. This loss has only further intensified my passion to support our rare disease community affected by lipodystrophy.
Briana Steiner
Hello warriors!
My name is Briana. I was diagnosed with Familial Partial Lipodystrophy in 2009. At the time, I hadn’t been in the doctor too many times because I seemed healthy. I actually went to a genetic specialist due to another condition that I needed to be tested for that ran on my mother’s side of the family. When the genetic specialist saw me, his eyes lit up and he asked me if I worked out at all. Of course my answer was no. He then asked me if I knew why I looked the way I did. I knew of people on my father’s side of the family that looked like me…large pronounced muscles, and fat in areas where it wasn’t supposed to be; but because I wasn’t close to any of them, I had no idea that it would be a defining moment in my life. He knew what I had, explained to me that he had only seen it in books, and that he wanted to test me for it. I of course said yes. Having Lipodystrophy has definitely been a roller coaster of a life. When I was diagnosed, I couldn’t find anything written on it except for medical journals that were definitely not written in layman’s terms. I saw photos of people who had it, and I cried thinking that not only was my life definitely going to be shorter in the grand scheme of things, but that I was going to be treated differently because I looked the way I did. I had support from my family, the small circle of friends I had, and my doctors…but no one who knew exactly what I was going through. Living With Lipodystrophy was created the same year I was diagnosed, but I didn’t have knowledge of Facebook to be able to join groups at the time. I was able to join years later and find a community of the most amazing individuals who completely understood all of the troubles and triumphs I face each and every day in order to live with this disease. Now I am an admin with the page. I am still learning, each and every day. At times I have the opportunity to teach, and that warms my heart being able to help others in a way I did not have when I was diagnosed. I am married to my soul mate, have 5 children (and many adopted children), 11 grandchildren, and a menagerie of animals. I have had 4 heart attacks (one being a widowmaker), many surgeries, tons of medication, and have seen so many doctors. I live life one day at a time and I love with my whole heart. I joke and banter and smile at life’s frustrations because that is how I deal with it. I am an advocate and a warrior! I look forward to working with Lipodystrophy United to help advocacy and teach others that they are never alone, but that there is help out there.