Health Features


Life With Proteus Syndrome

By ASHLEY NEGLIA
If you happened to spot 34-year-old Mandy Sellars driving, you wouldn't look twice. You may catch a glimpse of her short blonde hair -- a hint to her spunky personality -- or her thinly toned arms. But what you may not notice is that her car is specially equipped for her to drive with her hands rather than her legs.

Born with a rare condition, Sellars' petite 84-pound frame is supported by abnormally large legs that weigh in at 210 pounds. Her doctors, who are still baffled by her disorder, have tentatively diagnosed her with a form of Proteus syndrome for lack of a clearer explanation. Made famous by the case of Joseph Merrick, also known as "the elephant man," Proteus syndrome is an extremely rare disorder affecting one in 1,000,000 births that involves atypical growth of the bones, skin and head and can include vascular malformations and partial gigantism.

Once able to walk without aid, Sellars is now dependent upon crutches or a wheelchair to get around her home. Her condition has worsened over the years, causing Sellars to endure crippling paralysis, months of hospital stays and the curious stares of children and adults alike. Reliant only upon government and delivery services, she lives alone and has no caretakers to help her out of bed in the morning, do the wash or scrub the dishes -- activities that take her hours instead of minutes. And as her legs continue to grow, dwarfing her upper half, doctors can offer little explanation or clarity for the future.

AOL Health had the opportunity to interview Sellars about her condition.

AOL Health: Can you explain what effect this condition has had on your body?

Mandy Sellars: The best way to describe it is from my waist down my limbs are very, very large. I would guess maybe three times larger than the average person's. My right foot is just very deformed in a sense. It looks a lot like an average foot, really, to me, but it's just a lot, lot bigger than the average foot.

With the left foot, that's what they call a club foot, meaning it faces backwards. But that's still big as well because of the condition or whatever it is that's going on from the waist down. Because any kind of fat is stored from the waist down, everything from the waist up is very, very thin. I have muscle, but I don't have a lot of fat on my upper body because of whatever is going on internally.

AOL Health: Were you born with this condition?

Sellars: Yes.

AOL Health: Is it defined as Proteus syndrome?

Sellars: No, I've been to various doctors. And some say it's Proteus syndrome, and some say it's definitely not Proteus syndrome. So at the moment, I'm not really sure what it is. My own personal opinion is that I have elements of Proteus syndrome within my condition, but maybe it's something else as well as Proteus syndrome, but I don't know what that is.

AOL Health: Does anyone else in your family suffer from something similar?

Sellars: No. Nothing at all. I'm the first person to have anything like this.

AOL Health: Has your condition worsened over the years?

Sellars: Up until I was about 30, things didn't really get that much worse at all. I was still able to walk without the aid of crutches. I've always used a wheelchair because of the weight of my legs. When I was 28, I suffered from deep vein thrombosis, which is a blood clot. And that initially paralyzed me from the waist down for about eight weeks, but then the feeling started to come back. It's never come back 100 percent, but it came back enough for me to learn to walk again, but I have to use crutches now because my sense of balance and feeling is not as good as it used to be.

Obviously, now my legs are getting heavier. And there's nothing I can really do, so obviously as they get heavier it's going to be harder for me to actually walk and get around, really. Luckily, I had a test recently on my heart, and that is absolutely fine. The weight isn't causing any problems, which was a surprise, but a good surprise.

AOL Health: What is it in your legs that continues growing?

Sellars: I won't say it's mostly fat, but obviously fat is in there. Anything that's in the legs, the bones, the muscle, the tissue, the ligaments, the fats, everything's bigger. But obviously a lot of it that's getting bigger at the moment is fat.

AOL Health: Since some of it is fat, do you have any control over how big your legs get?

Sellars: With food. Obviously, if I ate pizza every day that's going to put weight on anybody. But even just sticking to a healthy diet, it doesn't seem to make an awful lot of difference. The weight still goes on my legs.

AOL Health: Can exercise help?

Sellars: I do lift weights occasionally to build up the muscles in my arms so it makes walking with the crutches easier. Just walking around in general is quite a lot of exercise for me. It gets my heart pumping.

AOL Health: How much do you weigh and how much of your weight is from your legs?

Sellars: My weight is about 21 stone [294 pounds], so I'm guessing the majority of that is my legs. Maybe my upper body would be about 6 stone [84 pounds], so my legs are the rest.

AOL Health: Do you take any medication to help with your condition?

Sellars: I have medication delivered because it's easier for me than going down to get it. I take painkillers because I have arthritis in my lower joints and obviously the muscle pain as well because of lifting so much weight all the time. I take stomach tablets because of years and years of being on tablets, [which] has messed up my stomach a little bit. I take hormone tablets because my condition affects women problems, shall we say. I take iron tablets because I have been anemic in the past, but if that has something to do with the condition I really don't know. I also take a few herbal tablets to help with joints. Obviously, I take warfarin as well because that's the blood thinner medication, so that prevents another blood clot from happening.

AOL Heath: You mentioned having deep vein thombrosis. Have you had any other health problems due to your condition?

Sellars: In 2005, a catalog of different things happened at the same time. I was on this particular medication for about 10 years, and I wasn't made aware that it could cause kidney problems, so my kidneys started to fail. I [also] had a problem with one of my legs. I just banged my leg on the table one day, and from then on it was so, so painful. I ended up going to the hospital because of this and then ended up having blood transfusion after blood transfusion because I was so anemic and on medication for the kidney failure. Thankfully, they managed to save my kidneys in a sense, so they are working as they should be now. I had complications when I was [in the] hospital anyway, so that was about five months of a stay in hospital.

AOL Health: During a documentary you did with TLC, you traveled to the United States to find out what could be done to reduce the size of your legs. Did anything ever come of that trip?

Sellars: No. I went to a surgeon to see what he thought about the possibility of amputation and also to see a prosthetic specialist about fitting me with prosthetics if I should decide to go through with the amputation. I haven't done anything about that because I've been told by quite a few doctors that the operation itself is quite a dangerous one to do. So my thought process is simply not to have the amputation until absolutely necessary, and so if my heart starts having problems due to the weight then amputation is something to be considered. At the moment my heart is fine, but in years to come that may change. It may not. I don't think anybody knows what's going to happen.

AOL Health: Do your doctors have any clue as to what's going to happen to you as you get older?

Sellars: No, they probably know about as much as I do, which is not a lot. It's just living from day to day and seeing what happens and, in the meantime, trying to keep myself as healthy as possible.

AOL Health: Have you considered anything else aside from amputation?

Sellars: I have had liposuction in the past, but that didn't work. It made the condition worse. That's not something I would ever try again, and [amputation] is the only other option doctors have given. They seem to think it's the only way to go, simply because my condition is really severe. It's not something they can treat.

AOL Health: Do you live alone?

Sellars: I do, yes.

AOL Health: Do you have any at-home care outside of your medication being delivered?

Sellars: No, that's a service they do for a lot of people anyway. I always find ways around situations. For food shopping, I order that on the Internet and the supermarket brings it to your door. So that's just a way around making life easier for myself. In terms of people coming into help me, no. I'm too stubborn. I like to do everything myself, whether it's the cleaning or the washing or the ironing or something like that.

AOL Health: Do you work?

Sellars: No. Due to the condition, working 9-to-5 would just really take it out of me physically. I do volunteer work, and that keeps me busy.

AOL Health: Are your shoes specially made?

Sellars: Yes. It used to be the National Health Service that made them, but they didn't do a very good job, so I asked a friend, a private shoemaker who lives not too far from me, and he agreed to make them. But it was just another matter then of finding the money to actually pay him because, obviously, if you have the shoes made from the NHS, they're free. But if you go somewhere else, they're not. They cost £2,000 [$3,000] to make. They're a very expensive pair of shoes. They could be very good designer pair of shoes, but they're not.

AOL Health: Can you walk without the shoes on?

Sellars: Yes. I can walk without shoes on simply because I have to. It's not as easy because one leg is longer than the other. The left leg is longer by about 5 inches. It's kind of changed over the years. It's not the left leg that's gotten longer, it's the right leg that's gotten shorter.

My right hip is tilting upwards, so as it does this the leg gets shorter and shorter and there is no way to stop [it]. It will only stop once the hip bone fuses and does not work anymore. There is no time frame on this. It will happen when it happens. There is no solution as a hip replacement could well cause more problems, like shattering my bone as they perform the replacement.

AOL Health: Are there some days that are worse than others for you?

Sellars: Yes. There can be a number of factors that can cause that. Maybe I did too much walking the day before or I haven't slept too well. The weather can have an affect on how mobile I am. If it's raining and damp then that affects my joints more so than if it's warm. So living in the UK isn't the best place to be really.

AOL Health: How far can you walk on a typical day?

Sellars: It's difficult to say. It can differ from day to day. Some days I can get from my bedroom in my flat to my car without any problem, which isn't that far. But then other days, I can really take an effort to actually do that. So it's kind of a daily thing as to how far I can actually walk.

AOL Health: How have your parents dealt with raising you with such a rare condition?

Sellars: Very well. If I compare my parents to how the parents of my disabled friends are, my parents are very laid back and just treated me like the average child and let me get on with whatever I wanted to do. It may have taken me a little bit longer to do something, or I may not have been able to do something but they always let me try.

AOL Health: You went to a school for children with special needs, but you also went to an average school. How did the average school differ?

Sellars: It was pretty daunting the first time going there because, obviously, being at the special school you're wrapped up into your own little world. Because everybody has some kind of disability people don't particularly stare or laugh at each other because that's who they are. But going to the average high school it was quite daunting because I always kind of wondered, "What would the kids think of me? Would they say something nasty?" It wasn't too bad from what I remember. It was okay.

AOL Health: Has it affected any relationships you've had or your ability to date?

Sellars: On and off I have dated. I think some people deal with it differently than other people. I think sometimes when you date someone [like me], you're not actually aware of the limitations. Say going on holiday, for instance. It costs more, and it can be more difficult with the wheelchair. It can be quite difficult and you need quite an understanding person and a very patient person as well. It's just a lot of compromise, patience and understanding really.

AOL Health: Are you seeing anyone currently?

Sellars: Not currently, no.

AOL Health: You were able to travel to the United States. Have you been able to travel to any other countries?

Sellars: Yes. I have done when money allows it. Sitting on the plane with my long legs is pretty expensive. To travel by plane, I need to buy either a business class or first class seat as I can't sit in any other seating. I've been to Canada twice, and I've been to Europe and America twice. I have been to quite a few places.

AOL Health: Is there anything you wish you could do that your condition prevents?

Sellars: The only thing I can think of is being able to run. When I was younger, I used to be able to run a little bit, and now I can't run at all -- and dancing when I go to a club. I miss dancing because I used to be able to do that and I loved doing that.

AOL Health: Do you ever encounter situations where people will say something inappropriate to you?

Sellars: Say I stepped outside the door now and I was in a strange town, I can guarantee that nine out of 10 people would actually stare. But that, to me, is to be expected. I understand why people do that. Because, obviously, it's a condition they will never, ever see again or at least I hope they don't for that person's sake. So I do understand that. It's when people take it to that next level and maybe laugh and point and maybe say something that's really pretty rude.

AOL Health: Is there anything you'd like people to know about you and your condition?

Sellars: If you're curious about something, rather than stare and laugh, come up and ask that person. I'm guessing the majority of people with a disability would rather people ask them what their condition is rather than stare at them.

AOL Health: Looking forward, you and your doctors don't know what to expect, how does that make you feel?

Sellars: It's not as scary as people maybe think it is. I think simply because I know that the actual decision to have amputation is down to me. So it's up to me to say, "Yes, now's the time to have it done." It's at that time that it's probably [going to be] more scary than it is now.

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