13 February 2017

Ian's Story

IanMy name is Ian and I am a 25 year old male. I was diagnosed with Familial Partial Lipodystrophy LMNA mutation c.1045C>T about 7 months ago after receiving genetic testing. As a child I was always very skinny and as a teenager I was extremely skinny, 6 stone (about 84 pounds). People used to think I was anorectic or bulimic and I received severe bullying due to this. I became very depressed and isolated as a teenager as people used to judge me on my appearance. I always thought there was something wrong with me as I use to eat loads, but never gained any weight. People used to think my mum was not feeding me. I have extremely skinny arms, hands, feet and legs for a man. I am also small for a man, 5 feet 5 inches. I stopped growing at age 13 (height, feet and hands.) I am always hungry and have a big appetite. When I was 18 years old I managed to gain 3 stone (total weight about 126 pounds) when I stopped smoking, but all the fat (weight I gained) went on my stomach, face, chest and the top of my legs and arms. My arms and legs have fat at the top but are very skinny at the bottom with bones sticking out. I am very insulin resistant and I am on 3 different tablets for my diabetes. I am also on cholesterol tablets. I find my diabetes very hard to control even when I eat healthy. As the years have passed I have learned I am what I am and I have learned not to listen to others, although I do have a complex about my arms and legs after receiving years of bullying e.g. chicken legs. I sometimes get cramps in my legs and always have cold hands and feet. I have found talking to others with this condition very helpful and I would recommend for others with this condition to talk to other people with FPLD as they understand and are very supportive. X”

~ Ian


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.