03 February 2017

Amy's Story

"I am a 33 year old female. I live in Mount Vernon, Washington, which is about an hour north of Seattle. I grew up in Ellicott City, Maryland, until I was 15 and then moved out to the west coast. My health issues started when I was 9 to 10. I entered into puberty, and that is where everything seemed to be "jump started". I had an appetite that I could not satisfy, I gained a ton of weight, I started having excessive hair growth in areas I should not have had hair growing, I started to develop these areas on my skin, under my arms, around my neck, knees, elbows, and it looks like dark velvet. My body "shape" started to change; I became extremely muscular, my veins started to become more pronounced, my arms and legs where so skinny, but I was so heavy in my stomach, neck, back and face. I developed poly cystic ovarian syndrome. My parents took me to an endocrinologist who did a glucose tolerance test, which showed I was insulin resistant. I was put on a very strict diet of low fat and low carb. I lost about 60 pounds. My endocrinologist did blood work and found that my triglycerides where in the tens of thousands, which meant they could not get an accurate reading of my cholesterol. I was put on medication. This is when the first endocrinologist spoke to me about maybe having some sort of congenital Lipodystrophy. I was 13, and that was the end of the discussion of what Lipodystrophy was. ​

Growing up as a teen was so difficult. I was teased and bullied. I developed an eating disorder and was depressed. I continued to take my medications, but I did not feel well a lot of the time. I turned from a teen into an adult, and the struggles continued. I stopped seeing any doctors for about 3 years, and then my family took me to the Endocrinologist at Johns' Hopkins University. They did all sorts of blood work, and determined that I had some sort of congenital Lipodystrophy. They put me back on medications to control my triglycerides and cholesterol. I was put back on a strict diet. But nothing else was said or done to give me a definite answer. ​

Starting about 5 years ago, I started getting horrible side pains. I had my appendix removed, a biopsy of my liver, and pancreatitis. The biopsy showed that I had developed fatty liver disease. My doctor said my liver looked like I had been an alcoholic for 60 years. I continued to have stomach pain. I had three more surgeries to try and find the problem. Then the doctor realized it was my gallbladder which had completely stopped working. I had another surgery. ​

Recently, I started seeing a new doctor, Dr. Michael Tamber at Everett Clinic. He took one look at me, read my history, and the first question he asked was if I had ever been told I had Lipodystrophy? I was shocked. We spent some time talking about it, and he started me on Metformin. We also talked about Leptin, and how when it becomes available, this might be something to consider. The only thing I don't understand is why I can't be tested, and given the "true" diagnosis. I know it is expensive, but if this was such a rare disease, you would think that doctors would be biting at the bit to diagnose me and help me get treatment. Looking at the web pages, I feel like I have met all these new people that look just like me. ​

I don't feel different. I feel like I am not alone, when I have felt this way for such a long time. It literally brings me to tears and I am so lucky that I have found this website and hope that I can help Lipodystrophy get "put on the map". Thank you for your time and letting me tell my story."​

Sincerely, ​

~ Amy Rohrbacher Lisherness, Mount Vernon, Washington, USA​

Related

You need to login in order to comment
Share your Story

Help others learn about Lipodystrophy by sharing your story. Your personal journey will help inspire and connect other Lipodystrophy patients and inform rare disease stakeholders and the public about this rare disease. Raising awareness through story-telling is an effective way to advocate! Email Global Genes to learn more.