20 February 2017

Rhonda's Story

Rhonda“My name is Rhonda, I am 34 years old and I have a type of lipodystrophy called Familial Partial Lipodystrophy (FPLD). My FPLD was diagnosed when I was 27 years old after a routine yearly physical from my primary care physician. I had elevated levels of proteins in my urine and because of that he sent me to see an endocrinologist. The endocrinologist knew something was “different” with me from the start just by looking and listening to me. I remember him asking several questions and asking if he could bring another endocrinologist in to look at me. After they both finished examining me they came in with a text book. It was in this book, in one paragraph of rare endocrine and metabolic disorders, where I finally had a name for what always made me “different”- Familial Partial Lipodystrophy. I am extremely lucky that I had an endocrinologist that took the time to properly diagnose and then guide me in the right directions on how to manage living with FPLD.

Everyone with FPLD has their own stories about growing up and managing this genetic disorder. While there is no cure or “one size fits all” treatment for FPLD, several of us are on the same medications and/or treatment plans. Some of us with FPLD have more severe complications that negatively impact our lives while some of us manage fairly well. Generally, individuals with FPLD have normal fat distribution as children- we look just like every other child out there. It’s when puberty happens that the gene mutates and you begin losing fat (adipose tissue). Because you are losing this fat you also begin to look like you have severe muscle hypertrophy (gaining of muscle). Most people think, “Hey that’s GREAT!” but at 11 years old waking up looking like the She-Hulk after a few weeks, you might think a little differently.

I have been heavily involved in athletics for the majority of my life. Everyone who knew me took my muscularity in stride and didn’t think much of it. Then there were/are people out there that are and have been just ignorant and terribly rude. I have gotten asked “Are you a body builder? Are you a swimmer? How long do you go to the gym for? Can I follow the same diet as you? Do you do steroids? Are you a professional WWE wrestler?” more times than I can count and the answer to all of these are no. I’ve had people come up and touch me without asking, I’ve had people look at me in disgust and I’ve had people that questioned my ethics. But to be honest, I love my body. I love that it is strong and muscular and it can do things that other people can’t. I am proud that my body gave me a wonderful athletic career and an athletic scholarship.

I am a dedicated and loving wife, proud mother of one son and three fur babies and love working for the State of Connecticut. I suggest to anyone that has been diagnosed with FPLD to get in touch with other women, you are not the only one that has this. Best of luck and all the love!”

​ ~ Rhonda, Connecticut, 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.