My name is Sharon. I am 35 years old, and I always knew I was different. I have a Master’s in Molecular Biology and was the Head of a translational lab doing cancer research, among other things.

Since a young age I looked different – I had central obesity, a thick neck, and thin, muscular legs. I had no fat on my butt or thighs and always thought, why is my body different than every other woman I know. When I was 6 years old we noticed that I had thick black coloring on my neck. My mom took me to the doctor, and this was the first time we heard about Cushing’s disease. My doctor sent me to all the tests for Cushing’s, but everything came back normal. She sent me home with a heavy cream for my neck, saying it was just dry skin, with no further evaluation. The years went by and every new doctor I met said the same thing: “I think you have Cushing’s,” and sent me to all the tests. They always came back normal. I remember my mom trying to clean my neck by rubbing it with medical alcohol, and people thinking I was dirty and that my mom didn’t take care of me.

My weight gain was very noticeable, and when I hit puberty the menstrual cycle problems began. I went to a gynecologist and he said, “I know what you have!” This time it wasn’t Cushing’s – he said I had Polycystic Ovarian Syndrome, PCOS. He sent me to all the tests, but there were no cysts on my ovaries, no high testosterone, so no PCOS diagnosis. In my teenage years I also started having excessive hair growth on my face and body, which fit really well with both Cushing’s and PCOS. My A1C started to go up, and so did my triglycerides. My PCP told me once, regarding my weight, that I had no willpower and that the only solution for me was dietary medication. I was lucky – I was a teenager with high self-esteem, lots of friends, and didn’t really care about what my PCP was telling me. Of course I tried every kind of diet out there, and none worked. During this time I probably saw 10 different clinicians and got the same answer: I don’t know. No diagnosis meant no treatment, and my symptoms got worse.

When I was 20, another endocrinologist sent me for a brain MRI, looking for Cushing’s. I remember that day very well – I was praying to have a brain tumor because I knew that would give me a diagnosis, and a simple surgery would fix my life. No brain tumor. At that moment I decided to stop looking for a diagnosis. I started university and shortly after began working at a top research hospital, treating others with situations worse than mine. I was at the top of the medical field but still couldn’t find a diagnosis.

At the age of 28, I came to the ER with an infected foot wound. There I met an orthopedic surgeon who asked me a very simple question: “What is wrong with you?” – and he wasn’t talking about my foot. I told him I didn’t know, and another diagnostic journey began – looking for Cushing’s, PCOS, and other conditions. In the end I was diagnosed with type 2 diabetes and finally started treatment. Although my triglycerides were very high, I didn’t start treatment for them, and I did start a contraceptive, which is a big contraindication with high triglycerides. The diabetes treatment started to work – I was losing weight and gaining muscle – but one day everything stopped working. My A1C was getting high again, and my blood pressure and pulse were so high they were afraid I would have a brain aneurysm or a heart attack. All of my previous doctors had always told me, “If you just lose the weight, all your symptoms will go away.” What happened to me was exactly the opposite.

My foot problem was getting worse as well, and the other foot started to suffer. I was looking into getting disability and needed to find an endocrinologist who could help me document all of my metabolic problems. I found someone online and set up a meeting. In the meeting she looked at all my tests, listened to my story, and then did something that had never happened before – she took my clothes off and did a physical examination. That was the first time in 26 years, since my symptoms started, that anyone had done that. She immediately said, “I know what you have,” and sent me to a geneticist. The geneticist took one look at me and said, “I know what you have,” and I thought, here we go again – it’s going to be Cushing’s or PCOS. But she said: lipodystrophy. That was the first time I heard the word lipodystrophy. She continued, took my clothes off, and commented on my leg muscles. I said that I go to the gym a lot, and she said, “That’s not the gym – that’s the lipodystrophy.”

About the Author

Getting a diagnosis was a relief for me and life changing. Finally I had a confirmation that something was wrong with me. I met my amazing endocrinologist who specializes in lipodystrophy, and she said something that changed everything – “It’s not your fault.” She explained what lipodystrophy is and told me that this is what my body knows how to do, and it’s not a question of willpower or a certain diet – this is my biology. After she said that, I started to accept myself and my diagnosis.

Living with lipodystrophy for me is not easy. I have many conditions that are related to lipodystrophy like diabetes, high triglycerides, and fatty liver disease. I have thyroid problems and cardiovascular problems. I have pain all over – joints, muscles, neuropathy – and I almost lost all sensation in my hands and feet. I also cannot look at myself in the mirror or in pictures. I have high self-esteem when I am face to face with people, but I cannot be in pictures or videos. I also have a muscular, almost masculine look, and I am being misgendered all the time. It’s hard to be in public venues and go to the bathrooms. The looks I get are very uncomfortable.

Having a diagnosis meant that I could start a treatment that fits me. It also meant that I have a team of medical professionals that help me on this journey. Getting a diagnosis also means that now I have a community of amazing people that look like me, feel like me, and are looking for a community just as I was.

The physical and mental challenges related to lipodystrophy are significant, and I am working full time to manage my disease, but I have no choice – the only way is moving forward and not giving up.

Getting the right treatment was the number one factor in getting my symptoms under control. I believe in a combination of lifestyle and medications. Exercising is the top thing that helps me feel better, both physically and mentally. Sometimes I can do a lot, and other times a 5-minute walk is all I can manage, but moving my body helps. Finding an understanding community and meeting others with the disease really helped as well. Getting tips and tricks from others living with the disease made a big difference, and helping new people get good information about the disease makes it even better.

With my diagnosis, we found out that one of my sisters has lipodystrophy as well, which wasn’t shocking because she looks exactly like me. We got the diagnosis of familial partial lipodystrophy, and when we looked further up the family tree we figured that my dad probably had lipodystrophy and his mother as well. They never got a diagnosis though.

Being someone with a rare disease means that almost everyone you meet won’t know about your disease and your struggles. Advocating for yourself in front of medical professionals and other people is super important. Educating them on the disease means that you will get better treatment. It also means that the next person with lipodystrophy who comes across them will get better treatment. Because lipodystrophy can look like other diseases, it is super important to advocate for people who haven’t received a diagnosis yet and are still looking for one. Educating medical professionals and explaining to them how to recognize lipodystrophy means that other people will get a diagnosis much earlier than I did. Advocating for lipodystrophy means that we are teaching people about the disease and what we experience. This could bring better solutions for lipodystrophy, better research for lipodystrophy, and it means that the medical community will hear us more. As one patient, we don’t have a lot of voice, but together, with our community, we can make change happen. I decided to volunteer with Lipodystrophy United to make sure that other people will get better treatment and receive a diagnosis earlier than I did. This means that they will suffer less – and that together, we will have better control over our disease.

Being someone with a rare disease means that almost everyone you meet won’t know about your disease and your struggles. Advocating for yourself in front of medical professionals and other people is super important. Educating them on the disease means that you will get better treatment. It also means that the next person with lipodystrophy who comes across them will get better treatment. Because lipodystrophy can look like other diseases, it is super important to advocate for people who haven’t received a diagnosis yet and are still looking for one. Educating medical professionals and explaining to them how to recognize lipodystrophy means that other people will get a diagnosis much earlier than I did. Advocating for lipodystrophy means that we are teaching people about the disease and what we experience. This could bring better solutions for lipodystrophy, better research for lipodystrophy, and it means that the medical community will hear us more. As one patient, we don’t have a lot of voice, but together, with our community, we can make change happen. I decided to volunteer with Lipodystrophy United to make sure that other people will get better treatment and receive a diagnosis earlier than I did. This means that they will suffer less – and that together, we will have better control over our disease.