IAMA 17 year old boy who has an extremely rare genetic disability
All my life, I have lived with a disability that is so rare, it doesn't have a name. What is known, is that when I was born, I suffered from a chromosomal translocation of chromosomes 2 and 18. This has led to severe deformities on all four of my limbs as well as some complex urinary issues. I have had of 43 reconstructive surgeries on my hands, feet and urinary system, but despite this, I have still made a relative success of my life. Including playing for my county team in Sitting Volleyball, being a drummer, and what I'm most proud of, getting a string of A's in my recent GCSE results. But you didn't come to read about that, so I will explain more about my disability. My condition, has only ever been found in a mouse and a fetus, who unfortunately died at birth. So, it seems I am the only known human being to survive this condition. When I was born, my fingers were completely fused together, and after many surgeries they have become something completely different, something that I can do almost anything with. (you will see pictures of the difference further below.) I am extremely grateful to my doctors, who have worked beyond the limits to work on completely reconstructing my hands. I guess, I could be considered to be their version of 'Frankenstein's monster'! I am now a double amputee, as both my feet were amputated, to create fingers and thumbs. I know they probably won't be reading this, but I would like to take this opportunity to say thank you so much to my doctors for making my life so much easier.
http://imgur.com/a/VCVKT#0 Here is a small photo album, to show you what my disability consists of. You will find pictures of my hands currently. (one is still recovering from recent surgery, so slightly NSFL) There is also a picture that shows my hands and legs about 10 years ago, before the right leg was amputated. And for those that understand, a picture of my very own chromosomes, and the translocation that led to my condition.
http://imgur.com/a/LhgjQ#0 some wanted a full pic, this is me a couple of years ago, with the sea cadets, I'd just won best cadet in the remembrance parade
http://i.imgur.com/ts3NY.jpg Proof photo. As the masses requested
I'll do my best to answer as many questions as I can but there so many. I may not be able to answer all of them. Hope you understand if there is no reply. :)
I'm wondering if this is you, but you have made no mention of the bone issues.
However the article does mention fused/split/missing digits (ectrodactyly) and a mouse with a similar mutation.
It would seem like that was me, there are many medical papers about me on the internet. They're interesting if you can get passed the medical language barrier. (I sure can't)
Do you have any problems with your nervous system? And what is it like to have fingers there now that were never there before?
To me, it's become a normality, I seem to be getting new fingers all the time. It does feel odd at first, with the extra weight and all, but after a few weeks it just feels normal. Luckily I have no problems with my nervous system at all. I do seem to have the inability to feel much pain though, but my doctors seem to think that it's because I have an extremely high threshold, not because of a problem with the nervous system.
To anyone thinking this is fake, I assure you, it's not,you want proof? ok, look closely at the pictures that I took of my hand, and compare it to the on from the research journal. The resemblance is uncanny!
Posted at almost the same time I suggested you do an AMA! Awesome!
Edit, because, well, got a lot of questions, and as an ex-genetics major, I'd be very curious to know more. Obviously, if there's anything you don't want to talk about, feel free to just say no comment.
First thing that springs to mind is 'How did you get this condition?'- Do either of your parents have any disabilities, or was it a development from birth conditions or the age of your parents when you were born?
How do you feel about things? You seem perfectly intelligent and well adjusted, with little mental deficiency that can come with some disorders involving chromosomal translocation, but how did you find the physical side of things effected your mental well being? Have there been any really hard times, and how did you get through them?
I'd also love to know what your experiences with prosthetics have been, especially prosthetic legs, after the double amputation- have you ever considered these to be an option, or do you prefer other methods of mobility?
If any of this makes you feel uncomfortable, I'm happy to just edit it out of my query, but thank you so much for being brave enough to share.
To answer your first question, Neither of my parents have any disabilities of any sort. We believe it was just a defect that occurred while I was developing, nothing from the outside seems to have affected it.
To your second question: All I've known throughout my whole life, is what I have. I never knew what it was like to have ten fingers and fully developed feet. So I guess I learned to enjoy life for what it is, and not dwell on the things I could have had. I have had no psychological problems whatsoever.
The double amputation was my idea in the first place. My feet were not growing normally, in fact, they weren't growing at all, and as I was growing, I was beginning to leave my feet behind. It would affect my balance and height. So, I came up with the idea to amputate so that I could have two prosthetic limbs, with normal sized feet, better balance, and be within the normal height range for my age group. Prosthetic limbs, in a way, have done more for me than surgery, they really help my mobility and turn me into a person that perhaps I could have never been without the legs.
Op, I know you havent much choice but to live with your condition... you fuckin have to, simple. But you seem to have attitude and fortitude of a most admiralble strenght, and most certainly, a good moral character, I take my hat off, sir.
My question>; why do they need your feet to create a finger? And could you walk, ever? Or even can you walk today? Do you excersise?
My doctors believed that making fingers out of other parts of my body that weren't needed would be a better solution then having prosthetic thumbs. The thumbs I have now are brilliant, I can move them, I can feel them, they do almost everything a normal thumb could. A prosthetic thumb would not allow me to be as deft as I am with toe to hand transplants. My doctors told me I would never walk, but apparently, according to my parents, one day I miraculously just got up and walked. I then had the amputations, which allowed me to have prosthetic legs. I can walk almost perfectly now, although the sport I play, sitting volleyball, requires me to remove them.
How tall are you with your prosthetic legs?
Do you plan on going to Uni and what would you like to do?
Fair play to you for your dealing with this, much respect.
my recent surgery was an amputation of my left foot, so I can't stand at the moment, but when I do get the new legs, I'll probably be between 5:8 and 5:10
What are your long-term goals?
I don't know if this is a touchy subject, but since you're the only person to have survived with this condition, do your doctors have a guess as to your life span? Do they treat you as though you'll live a long life like your peers, or have they given you an estimated shorter life span? If it's shorter, can you give a rough idea of how short, and how it affects your day-to-day life? Again, if this isn't a comfortable subject, please don't answer it.
Also, what's your social life like?
My doctors think that, I should be able to have a perfectly normal lifespan. That is if I don't damage my one kidney and I require dialysis. (My other kidney was removed three years ago as it had developed an abscess and almost killed me!)
I do find social life slightly more difficult, I have the occasional good friend, who sticks with me through thick and thin, but people move on to other places. At the moment, I'm quite happy being forever alone.
Congrats for being so strong. What do you want to do in the future? What are your goals? Thanks for the AMA.
Ironically enough, my ultimate goal is to go into medicine
If I may, what is the hardest thing for you about this? Both physically and emotionally. Thank you.
I suppose the hardest thing, is dealing with the opposite sex. I got over the physical limitations years ago, so that's not a problem. But emotionally it's difficult, especially when you fall in love with someone and you can't pluck up the courage to talk to them because you know that the disability will get in the way.
You say you just passed your GCSE results, does that mean you live in the UK? Do you use the NHS, and if so, what is your opinion on it?
I think the NHS is absolutely incredible, you will get all the treatment you need completely free and the care is just as good as anything you would have found in a hospital you pay for. I know that some people may have had other experiences, but from my perspective, it is one of the greatest things about living in the uk.
Considering I have had a lot more experience in a hospital than many other people. I think that the secret to being completely comfortable, is as simple as patient cooperation. Unfortunately not many people understand that and I have seen many people getting themselves worked up and agitated because they wouldn't cooperate with the doctors. I don't think that there's much that the doctors can do except carry out their jobs with empathy and understanding.
So you had your feet amputated. So that means that you can't walk anymore? Could you walk before?
When I was younger, the doctors told me I would never walk, but with the help of prosthetics, I found a way and can now walk normally
How does this affect your love life, if you have one yet? Do you plan on pursuing one?
No, never had a girlfriend. There is this one girl that I've known for awhile, but I've never been able to say something to her for fear of the disability getting in the way.
I have a similar disorder on my right hand. Only 3 fingers and they aren't fully functional. My question is: Aren't handshakes the worst? How do you handle them?
Luckily, the shape of my thumb, fits almost perfectly onto a normal hand, almost like a puzzle piece. Pretty useful coincidence I think.
Why did you have to amputate the right leg? I understand the feet, to create fingers, but why the whole leg?
Only the feet were amputated, sorry if I misled you.
what are you goals now that you've got the GCSE's out of the way?
Is medicine something that interests you?
What kind of music do you like to play/listen to? You should check out django reinhardt!
Yes, medicine is something that really interests me, it's my ultimate goal to go into medicine. g I enjoy listening to Heavy Metal music and I do thrash metal drumming, although the double kick is more difficult
I once saw something on the news, did you once get a pair of goalkeeper gloves especially made for you? I remember seeing a very similar condition on the news where a boy got gloves made for him.
I saw that as well, it's not me but his hands are remarkably similar
Have you got teased or bullied at school for it?
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