"Born in January 2014 was my sweet Alani. Just over 5 lbs, she was so small and frail but so beautiful. She had an awfully large belly to be so new and I noticed that she had two hernias in locations that concerned me, but I was assured they would resolve on their own. Her head seemed so abnormally large and I tried to rest on assurance that it was just all part of the birthing process. I mentioned about her frail yet defined appearance and jokingly I was encouraged to be thankful to have a future gymnast on my hands. I stared at her for hours and dreamed of what would become of her. Her first steps, first words, oh those terrible two’s. Yet she looked so different, I just couldn’t place the feeling of uncertainty.
Discharge went as planned and I took Alani home. Still with lingering thoughts about her incredible physique I decided to use Google. I typed “Muscular Babies.” Image after image popped up of these babies with legs and arms of a body builder. Captions followed mentioning “Dystrophy.” I decided to search further. Over the course of the next couple of months, life went on as usual, Alani flourished as any infant would and we watched her grow only different in appearance from her other siblings. As time went on, I grew more and more concerned about what was going on with her internally as she picked up an overwhelming desire to eat constantly. It was as though she was never getting full. I nursed her to the best of my ability and immediately had to substitute formula no matter how long I nursed her. After each bottle feeding she would cry for more until she received yet another, and another and another.
Anxiety crowded my thoughts so before we knew it, it was time for our first shots. At our 3 month appointment I sat holding Alani thinking to myself how was I going to tell her Pediatrician that I was refusing immunizations. She had a cold so I could use that but it was the only stance I knew to take, the only way I could be heard. It was my protest, my time. So I immediately blurted out that we would be refusing shots. Shocked, her pediatrician turned to me and asked what was wrong because she didn’t have a fever so shots would be safe….so I told him. I told him everything. He asked what I wanted to do; I told him I wanted to go to the hospital so he immediately admitted us to OU Children’s in Oklahoma City in April of 2014. We stayed a total of 3 days presenting with a severe cold and concerns of extreme muscular appearance. On the 1st day we were overwhelmed with questions and fascinations as we detailed our concerns to all doctors and nursing staff that came in our room. The 2nd day genetics team came in to look at Alani and asked me what I thought she had. I told them it was some form of a dystrophy but I didn’t know what. After they examined her they assured they would be back. Indeed they came back with medical students and other staff and I immediately felt faint. The genetics team advised that they felt she had a form of Lipodystrophy but without genetic testing they would be unable to tell us exactly what type. I immediately began sobbing uncontrollably and no one…nothing could console me. Appointment times and days were set up to begin testing and so life as I knew it would never be the same.
In May 2014, we received confirmation that Alani had Congenital Generalized Lipodystrophy (CGL). Her specific mutation type is AGPAT2. After receiving the results I fell into an immediate state of depression and I refused any reason. Alani’s blood tests revealed extremely high triglycerides and her leptin levels were dangerously low among having other medical issues, research began for her and I began my own research. I was told I could no longer nurse her and her formula would change as to attack the extreme concern with her receiving fat as it was attacking her. I had no idea what this meant but I gained a sudden desire to fight and it has only gotten stronger day by day. I told myself that I was going to fight a good fight and my baby was going to survive. Just as an athlete, I conditioned myself to find answers, solutions to a problem that no one could explain.
Countless doctor appointments came and went. She was placed on a very special formula that had to be shipped to us called Enfaport by Enfamil that amazingly enough maintained her triglycerides at safe levels along with the fact that it was her main source of nutrition for the first year of her life as no one knew how to safely feed her. So we were advised against it. Discouraged I decided to start channeling outside sources for help. I spent so many sleepless nights networking, requesting information as well as sending her pictures and information to doctors, professors anyone who so much as even heard of her condition or spoke on it. Shortly thereafter, responses flooded my inbox and our first adventure was to a Lipodystrophy Symposium in Ann Arbor Michigan late that year. This followed by our ground breaking trip to NIH Maryland where I was trained on how to administer Alani’s Myalept/Metreleptin/injections. Yes, it happened that fast. One minute I had no idea what was going on in the world around me, the next minute I was dragging suit cases and packing my baby in my arms in airports to connecting flights to see doctors from around the world. It has been an incredible start to a journey I know will present us with endless opportunities and I am forever grateful to those who extended their hands out to us in love and friendship.
Alani has CGL and there is no cure. We are told she is a 1 in 10 million medical miracle. The only treatment available is what she receives daily by injection in hopes to replace, stabilize and maintain her levels so as to not cause any other uncontrollable endocrine issues. With no guarantees and no one to mirror we can only have deeply rooted Faith that this will work. People often ask what I expect of her. Well, I expect for her to be a World Class Olympian, Gold Medal Gymnast, and President of the World. I expect what any mother would of her child. Only the best. But all I have is Hope. Hope that she’ll beat the odds against her. Hope that we’ll beat Lipodystrophy…together."
Update: July 2016
Our Lipodystrophy:.."I watch my daughter's belly extend, her legs so frail and thin. Her arms so tiny and her hands barely able to hold anything for any length of time. Her face no longer the cute chubby cheeks and pudgy nose. She tries so hard to sit and stand but
July 20, 2016
“My 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”
"A long time ago when I was born, I wasn't like normal babies. I was born very weak and unfortunately weighed less than a healthy baby should. Fortunately an American female doctor was present during my birth who made all the difference. The weakness I had was quite alarming hence my parents worry which was followed by several tests regarding my health but nothing was wrong at that time. All through my teenage years I was known as a girl who wasn’t so pretty, attractive in the conventional sense and weak. Family can be very annoying at times and my relatives proved nothing else. They would often question my parents, 'is she your daughter? Because she doesn’t looks like anyone of you! Do you give her enough food? Does she eat properly? On and on, this interrogation went and every affair resulted in the same badgering. At one time I thought that maybe I was different, that something was wrong. I was the only one in family crying over more food, anything and everything to help me gain weight, to fill in the clothes that I used to wear. I was skinny, but that wasn't it. I could live with being skinny, the heart of the matter was I looked different and I knew that, and my friends, well they never allowed me to outgrow my constant worry about my looks. I was made fun off, and I had to endure that. No clothes suited me, they just wouldn't fit. I looked like a skeleton and I used to compare myself with others, their looks, their appeal. I looked awful while everyone else looked beautiful. As luck would have it, that wasn't the least of my problems. At the age of 17, I was diagnosed with diabetes when my stomach got upset a few times. As per the society’s view I was scared to use insulin so I was prescribed homeopathic medicines. However it did not work and my health deteriorated, including my eye sight which got weak and many health issues started to show up.
My life changed after that. I started taking oral pills and insulin injections four times a day. The procedure was painful and without results because even then my blood sugar level was not normal. After two years I started having pancreatitis attacks and I was off and on a victim of it. I left schooling as I was not stable enough to perform regular activities. Meanwhile my parents went to the states and met the same lady doctor who was present during my birth. Hearing about my illness she gave my parents the details of Dallas University. They came back and I started contacting doctor Garg and he asked for my blood samples. He confirmed with me that I had Congenital Generalized Lipodystrophy (CGLD). Thus I came to know about this new term at the age of 20. I was keen to research about my disease and found this group on Facebook, where I started talking to Leanne Tavares. She referred me to her doctors at the National Institutes for Health (NIH) and offered me to start the Leptin treatment. Meanwhile I was suffering from pancreatitis attacks badly. I finally made it to NIH and started with the Leptin injections in 2012. This was a miracle; my pancreatitis attacks disappeared and my diabetes got better and better.
I cannot thank God enough for making me get this treatment. Although minor health issues are a part of life, no one believes me that I suffer body aches every day. It’s hard to express how one feels to live in a society where you are judged by looks, but I am living it to the fullest, making the most out of a worse situation. Making everybody laugh and staying positive is the only remedy to cater any illness, be it a life time disease. . I am glad I am the first Pakistani girl to share my story.”
~Afnan Zia, Pakistan Islamabad
"When I was a little girl I was fairly healthy, but I was very skinny and had a big appetite. When I reached puberty I developed a muscular look, my veins started popping out, and I got a double chin. I was devastated! I wanted to look like the other girls who were getting womanly curves. Every night I prayed that I would wake up and look “normal.” But when I woke up in the morning and looked in the mirror I still looked the same. I felt so depressed and confused. Puberty is not an easy time, especially if you look different. It’s even harder when you start showing physical characteristics associated with the opposite gender!
Like many other FPLD women I endured strange looks and comments such as: “Do you lift weights? Are you on steroids? Why is your neck so fat? Have you had your thyroid checked? You don’t have a butt—why don’t you have a butt!?!” As a college student, my self-image began to transform in a positive way. I took a women’s studies class in which body image was discussed. We talked about societal pressures that women face—including the unrealistic expectation to always look a certain way. A light went on! I realized that all women—rather, all humans are beautiful in their own way. I didn’t have to be a prisoner to what society told me was beautiful and acceptable. This realization was life-changing for me! From that point on, I didn’t feel so bad about my body. I felt like I was special and beautiful in a unique way, even if some people could not see my beauty.
In my late 20’s I faced new challenges as my health started to deteriorate. Over time I developed the following medical problems: Exhaustion, hyperphagia, digestive problems, tendonitis, muscle weakness, lipomas, peripheral neuropathy in my feet, gynecological problems, anemia, migraines, sleep disturbances, depression, fatty liver, and eruptive xanthomas. I went to countless doctors and they didn’t know what was wrong with me. My blood tests revealed high lipids (both cholesterol and triglycerides). Then my blood sugar skyrocketed and I was finally diagnosed with type II diabetes although I knew that this diagnosis was not correct.
I tried a variety of conventional and natural medicines, but nothing helped. Conventional drugs were the most problematic because they were ineffective and they gave me horrible side effects. Desperate to re-gain my health, I pushed myself to do strenuous exercise in the hopes that my lipids and blood sugar would return to normal. I tried every diet imaginable. Unfortunately, all my efforts were not enough to keep my heart healthy. In my 30’s I was diagnosed with cardiac blockages and needed stents.
Searching on line for answers, I found the description of FPLD. I immediately knew that I had this type of
lipodystrophy. Honestly, when I saw the information pop up on the computer screen I broke down in tears because I
finally knew what was wrong with me. I had suffered for so many years and many of my dear family members had suffered too. In the past, no one knew what was wrong with us. Now we finally have the chance to live a better life. I enrolled in a clinical trial for leptin replacement therapy and have been on this regimen for several years now. Leptin
saved my life. It has drastically lowered my lipids and blood sugar levels and, equally important, it has regulated my appetite. I no longer feel like I’m starving all the time! I can eat like a normal person and not feel panicked about getting enough food to eat.
Even with continued leptin therapy, I struggle with residual medical issues caused by two decades of untreated high blood sugar levels and high lipids. Leptin is absolutely vital for me and I hope that the FDA will approve it for all patients who can benefit from it. I hope the medical researchers will continue studying us because we can help them solve many problems in various fields (e.g. endocrinology, cardiology, genetics, etc.). We are extremely valuable--not only as humans in our own right--but also as treasure troves of medical information. So I want to thank all the health
professionals who have helped us thus far. Please keep assisting us. We need your help.
I also want to express gratitude to all the women who have shared their personal stories on this website. You are such an inspiration and it’s a great relief to know that I am not alone in this journey. Finally, I want to thank the special people who created this website and other on line resources for lipodystrophy information and support. Without your vision and generosity our voices would not be heard."
~ P.L., USA
"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."
~ Amy Rohrbacher Lisherness, Mount Vernon, Washington, USA
"Hello, my name is Kayce Gordon. I was born and raised in the beautiful city of Marquette, Michigan on the sandy shores of Lake Superior. I grew up ashamed of my body and never wore shorts until connecting with many wonderful women on Facebook who also share my form of Lipodystrophy, FPLD, also known as Dunnigan syndrome. It was very hard wearing jeans to the beach while all my friends wore swimsuits and they didn't understand why I never wore mine. I'm happy to share that last summer was the first summer I wore a short dress and shorts in public. Having the support and understanding of others with FPLD has given me the courage to finally enjoy the warm weather and cool water on my legs for the first time. I thank all the women from Lipodystrophy United for that!
I was diagnosed at the age of 27, after nearly 10 years of untreatable diabetes and a number of other things. I was
treated with the wrong medications and fought for doctors to look for the answers. My husband was completing his nursing degree and came across a description of the different forms of Lipodystrophy in one of his books. We went to several doctors before finally getting one to listen. By this time my body was shutting down and the diabetes was taking over. I was on an insulin pump that did little help if any. I was lead by my endocrinologist to look for help at the University of Michigan. This is where I found my guardian angel Dr. Elif Oral. She took me under her wing and treated me for the following problems: Diabetes, Polycystic Ovarian Disease, Carpal Tunnel, Myopathy, Neuropathy, Gastroparesis, Liver Disease, Sleep Apnea, High Triglycerides, Degenerative Disks in my back, Atypical Migraines, Diabetic Retinopathy, and Pre-Glaucoma. Most of all she started me on a Leptin Study. After years of feeling like I was living in a fog, I started to be reborn. Almost 5 years after receiving the help, I am happy to say that I feel better and I know I am alive because of her. I hope to someday help other people, and return the favor.
As for now I try to keep up with new requests to join "Living with Familial Partial Lipodystrophy" on Facebook and get to know each and every one of you online. With my health better, I am now able to enjoy life and travel with my nurse husband Gabe, of 10 years, and our 2 year old Doberman Kullen. I still live with many chronic illnesses, but it is just part of the disease that you just learn to live with.
I hope to meet with all of you courageous and strong women out there :) Stay Strong! We are all here for you! Please remember you are NOT the only one!"
~ Kayce Gordon, USA
"Growing up mostly in Maine, I worked from age 12 to 16 on a vegetable farm during summers and in their green house during winters to help pay for my school clothes. Over those 4 years, I developed a very muscular, somewhat masculine physique, with small hips and a disproportionately chubby face. I thought it was due to my work picking and hauling bushel baskets of cucumbers, tomatoes and green beans, coupled with my insatiable appetite (Hyperphagia page 110 & 114)! Boys called me names (“York Pork” – my maiden name was York), did not want to date me, and a group of girls bullied me, punched me and called me “Nail” whenever they saw me. Ashamedly, at age 16 I became bulimic, hoping I could lose the weight in my face and attract a boyfriend. Though I lost 30 pounds that summer, my face remained very heavy.
While standing naked in a group shower with 25 other women in Air Force Basic Training (like Boot Camp), I noted how different I was from the others. A new female recruit actually came up to me and asked, “Are you a Transvestite?” Red-faced, I replied “No,” speedily dried off and dressed. Seems funny now, but it most assuredly wasn’t back then.
While serving on active duty for the Air Force in 1986, I was diagnosed by an endocrinologist as having “Lipoatrophic Diabetes,” which doctors now call Familial Partial Lipodystrophy (FPLD). Extremely high triglycerides and cholesterol, Polycystic Ovarian Syndrom (PCOS), “Moon Face” (excess fat on my face and neck), very low fat in my arms, legs, and hips, hirtsutism, chronic depression and extreme insulin resistance led the doctor to his diagnosis. He told me there was little known about this rare disorder and no known effective treatment at that time in the 1980's.
In 2011, I miraculously met nine others with Lipodystrophy (LD). Some of them have worked very hard to increase awareness and education about this rare disease, which led to the Patient Registry at LDConnect.org, this LU website and 4 supportive Facebook groups where we can all share information. Some of these brave patients also shared their stories with the U.S. Food and Drug Administration (FDA), who recently approved a treatment for the Generalized types of LD. We hope in the future an effective treatment will also become available for those of us with Partial LD. In May 2014, I began a clinical trial with Leptin, thanks to Dr. Elif Oral. As of May 2015, my voracious appetite, my high blood sugars and triglycerides have decreased significantly. Also, my liver biopsy results are markedly improved.
On July 16, 2015, I fell directly on my right hip onto cement, breaking it in 3 places. On the bright side, my surgeon said my FPLD bony hips made it easier for him to operate due to the lack of normal fat!
A special thanks to Kayce, Andra, Maureen, Claire, Troy, Leanne and Dorothy."
With a chubby, dimpled smile,
~ Linda (York) McCormick, Escanaba, Michigan, USA
“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
Ashley Zavela is originally from Brazil, Indiana. She was diagnosed with Familial Partial Lipodystrophy (FPLD) in 2006 while living in Knoxville, Tennessee after some of her lab results revealed high triglyceride and insulin levels. In 2007 she had a bout of congestive heart failure. Her symptoms of FPLD and heart failure were well controlled with medications until September 2011 when, after a routine surgery, it was discovered her heart was failing fast and was beginning to cause liver issues. In November 2011 she went to Indiana University Methodist Hospital where it was determined that a heart transplant would be needed. After moving into the hospital, Ashley received her gift of life on April 12, 2012. She was released 12 days later and, after completing cardiac rehab, moved back to her current home in Mt. Zion, Illinois. She resides there with her husband, Allen, daughter, Emerson, and 3 pugs.
In addition to being the Secretary and Co-Founder of LU, Ashley is an active volunteer for the Indiana Organ Procurement Organization, a member of Mothers of Preschoolers (MOPS), and a budding soccer and dance mom.
"I have been an advocate for myself since I was diagnosed with FPLD in 1978, at the age of 18. Very little was known about Lipodystrophy at that time, therefore, I needed to be vocal and share what knowledge I had with the medical professionals I encountered. I became the teacher and I will continue to teach to whoever will listen and raise awareness! From mild to severe, I am at the severe end of the spectrum. Coronary artery disease has been my biggest challenge with two multiple bypass surgeries, five heart attacks with 22 stents and counting. Insulin resistant diabetes, pancreatitis, fatty liver, polycystic ovarian syndrome, neuropathy, high blood pressure, hypertriglyceridemia, hyperphagia (that incessant hunger), acanthosis nigricans, hyperhydrosis, sleep apnea and chronic tendonitis round out my list of complications. All resulting in chronic pain and disability. Oh, did I mention the buffalo hump, massive double chin and the continued fat wasting? I can handle all of the clinical medical issues, that's my "normal". What I have personally struggled with most is my appearance. This can be an isolating disorder for some of us where others have gloriously embraced Lipodystrophy. Join one (or all) of the Facebook support groups we've listed because it can be life-changing to know other people who are sharing the same struggles and successes that you may be experiencing. I encourage each of you to take a similar approach to what I have, learn all you can about LD and accept your role as an advocate in living with this quirky, rare disease. And, it certainly can be quirky! My hope is that no one touched by Lipodystrophy will ever have to walk this path alone. I have met some amazing people in my journey and it is time to share our knowledge and our strength. I consider myself Blessed to see us United!"
~ Maureen Callahan-Norcross, Northern New York State, USA
"I am a mother, a patient and the co-founder and President of Lipodystrophy United. My story is only one of hundreds living with Lipodystrophy (LD), each varying by subtype or severity. My specific type, FPLD, is a genetic condition with onset at puberty. Although I was not diagnosed until I was 38, I’d always known my body was different and even assumed that some of my health problems were associated with my lack of visible fat. One day, after a trail of questions not related to my condition, I walked into the office of a knowledgeable, old-school endocrinologist and he simple said, “I think you have something called lipodystrophy.” This explained my years of high cholesterol, failed normative tests, high blood pressure, diabetes, near-death pregnancies, exhaustion and insatiable hunger. You mean not everyone is this hungry? I thought I was just a wimp. I suffered in silence because I thought everyone felt like this. Yes, it seemed strange that I could eat an ENTIRE pizza and promptly start thinking about my next meal while my body was thin and getting thinner (Except that darn face that keeps getting rounder and rounder). Without the subcutaneous fat to cover the muscle, I look like I spend my days at the gym. No, I am not a body builder, a swimmer, a runner, and no, I don’t take steroids, really, doctor, I don’t. I am watched and stared at everywhere I go. Often people will say, “Look at that woman, gross!”, as though I cannot hear them from 5 feet away. Others think it’s cool, but either way, I draw attention. I am told “You are sooo lucky!” on a regular basis because I don’t have cellulite….that adipose tissue that creates the hormone, leptin, which helps your body regulate energy, metabolism, satiation, and so much more. I’ll gladly trade some fat for my daily 20+ pills and restricted diet, for the swollen legs, the apnea, the exhaustion, the headaches, the nerve damage, chronic angina and that stroke or heart attack that is hiding behind every corner for some of that cellulite.
Lipodystrophy is progressive. I lived many years mostly healthy and still feel lucky to live an active and productive life. But I’m increasingly tired and “sick”. I would say the fact that we look healthy hinders the ability for people to take our illness seriously. I find it difficult to express that to friends and family in such a way that I am taken seriously yet don’t sound like a complainer.
I lived many years thinking something was wrong with me by not having a diagnosis. The label “lipodystrophy” has allowed me to seek information, demand attention and learn to advocate for myself. There is still limited information, no approved treatment, and certainly no cure in sight. I now work with some of the most inspiring patients, doctors and researchers around the world. I am able to answer questions and provide information with the hope that I can help make the path for every young person with LD a bit smoother. All in all, I think I’m pretty lucky too."
~ Andra Stratton, New Mexico, USA
"Hello, my name is Leanne Tavares and I was born with Congenital Generalized Lipodystrophy (CGLD). I was diagnosed when I was a year old. Spending most of my 1st year of life in the hospitals doing all sorts of testing for the liver and other organs that were slowly shutting down, I finally got to feel what it was like to go home and spend some quality time with my family. At, age 5 it was announced that I was a diabetic and needed to be put on medication to control my sugar levels and also my appetite was so large that I would eat uncontrollably and didn't know what it felt like to be full. Elementary school was very hard for me because of the constant bullying physically and mentally and would often fake to be ill to stay home because I was too afraid of the bullying to get worse. I remember in grade 3 I got cornered and got punched in the stomach several times that I fell to the ground and had blood on the side of my mouth. I felt like this was something that would be following me the rest of my life and didn't want to feel this pain. Throughout the rest of my elementary school the bullying continued into high school where wanting to take my life became more of a solution at the time for me. I have an older sister and I always looked to her and wanted to live in her shoes because from what I witnessed her life seemed to be the life I wanted to have. In grade 9 I would get shoved to the ground and shoved into my locker time and time again. Throughout my childhood and teenage life I would miss a good amount of school because of consistently going to appointments making sure that all my liver functions were on the stable side and making sure that everything else was normal. But everything was far from normal when it came to my health. I was put on the liver transplant list for a year and also my kidney’s functions were going down because of the amount of protein that my body was producing; my legs were swelling and became noticeable because of how my body was so muscular anything that would swell would be noticeable. I was always a fan of children and wanted to grow up and be able to help children and youth with their battles and help them understand that life is more then it seems at times through the hardship. I was told at a young age that I wasn't able to have kids because I had cysts on my ovaries which made it hard to conceive which for me, even though I was young, it hit me hard. At, the age of 13 I was told about a drug called Leptin that was a research drug and they weren't sure if it would work, but if I wanted to go to Washington and see if it would help me, we would take it from there. After being on Leptin for 10 years, Leptin has been my miracle drug and I don't know what I would have done without Leptin. I had 3 cousins who've CGLD and passed away in their 30's and I have a younger cousin who is in Portugal he is 11 years old. When after being on Leptin for so many years I have become so thrilled that my cousin has something to reach out to so his medical issues can become better and life won't become a challenge so much as it was for me in my childhood and teenage years. After being on Leptin, my liver functions are normal and I am not on the transplant list anymore. My kidney functions are normal as well in which makes a massive difference again in the swelling that I use to have. At my last visit to the National Institutes of Health (NIH) I found out that I no longer have cysts in my ovaries and I am now able to have children later on in my life which makes me so content being able to have what I always wanted - a family. I am honored that now there is awareness out there about Lipodystrophy and that there is something like Leptin out there to help so many others out there!
I am honored and proud to have shared my story and also am honored to have met everyone who I have met throughout this journey in life."
~ Leanne Tavares, Woodstock, Ontario, CANADA
"Hello, my name is Marilyn Bucholtz (left) and I live with Familial Partial Lipodystrophy (FPLD). I was diagnosed at the age of 58 by Dr. Elif Oral from the University of Michigan, after my daughter Kayce Gordon (right), started treatment with her. I always knew that there was something wrong. The years of uncertainty of my body grew worse over the years. I had certain moments that told me that something was off. Complications during simple surgeries, cholesterol sky rocketing along with my blood pressure in my 40's, and the obvious other things, should have been enough for my doctors to look for an answer and help. In my 50's I developed diabetes, that wasn't the worst part for me though. My demon from the FPLD was the extreme hyper activity and anxiety. I spent most of my life working too hard. The job was never good enough or finished. When the job was complete, I would lie awake at night worried it wasn't good enough. This feeling has only raged on more extreme as the years passed. Thank God for the loving support and understanding from my Husband Jim of forty years.
The Lipodystrophy came from my father, Keith. When he passed 14 years ago, we had no idea why he spent most of his adult years in pain. Honestly we all thought he was a hypochondriac and a complainer. It wasn't until we learned about our disease that we finally understood what the problem was over his lifetime. We now only hope that he is watching us from above and now understands.
My sister who is 5 years older than I was diagnosed last month with a mild form of the FPLD. She has decided not to worry about any special treatment for now. She feels that she is too old to start to treat her problems. I was in pretty rough shape when I started the Leptin therapy in 2008. I no longer take 20 some daily meds along with insulin. That is a blessing. I hope someday soon the Leptin will be available for everyone to use. I believe that it has saved my daughter’s life and helped mine immensely.
I'm now retired from many jobs, most in the health care field. I have finished remodeling my home in Marquette, Michigan. I spend a lot of my time walking my 8 year old Doberman Greta Garbo, riding motorcycles with my family, working in my giant flower garden with my daughter, and spending time with family and friends. I hope to someday soon become a Grandmother to children rather than to just 3 grandpuppies."
~ Marilyn Bucholtz, Marquette, Michigan, USA
Lipodystrophy United does not promote nor endorse any treatment, physician or lifestyle. The intent of any information posted on this website is to promote awareness and information.