I am a 20 year old male born with a genetic skin disease called Epidermolysis Bullosa that causes blistering and tearing of the skin. It's commonly referred to as the butterfly disease. There is no cure. Ask away!

Proof: http://imgur.com/YKprJm4

Photos: http://imgur.com/a/M2CjV

Much requested bandage photo: http://imgur.com/r002lhE

EDIT: Added photo album

EDIT 2: Thank you so much for the gold! I'm trying my best to get to everyone's questions!

EDIT 3: Front Page!!! Wow thank you guys! I was just trying to raise a little awareness for Epidermolysis Bullosa, but this is amazing!

Comments: 2295 • Responses: 112  • Date: 

32748291o1644 karma

What brings you the most joy in life? How does your condition limit your day to day life?

I feel for you.

throwaway21368652303 karma

I don't truly know what brings me the most joy. I enjoy typical guy and young adult things. But I love making people happy. I am very fortunate to have lots of people who truly care about me. I get lots of support from my church family.

As for my daily life, Epidermolysis Bullosa is very painful. I have large open wounds. I wear a bandage that covers my torso, like a vest to protect my skin. That has to be changed every day, and is uncomfortable and often painful. In the summer I have to avoid heat. The cold also makes me hurt because my skin is thin. I cant participate in any contact sports. I often have trouble opening things, like bottles and cans. The also takes an emotional toll on me. I'm always dependent on someone to help me. And I have insecurities. I'm always trying to cover my skin. Dating is hard and it's embarrassing to explain the disease to new friends.

MLG_Arcane882 karma

Please tell me you can play computer games. Being a young adult and all.

throwaway21368652048 karma

I can, but I've never been too interested in them. I'm more of a watch-Netflix-all-day person.

RedDevil55567 karma

Have you ever tried chess out?

throwaway2136865101 karma

Yeah I'm no good at it. :(

Lufernaal1051 karma

How sensitive is your skin? Does it hurt to touch something that doesn't have a smooth surface?

throwaway21368651540 karma

I have a mild form of the disease and have what's called mosaicism, which means that my face, arms, and legs are perfectly normal, so they aren't sensitive. The main area affected is my torso. I wear a bandage, much like a vest, that is changed every day and protects my skin for the most part. Without the bandage it is extremely sensitive. There are places that just lightly touching causes extreme pain.

niceguysociopath470 karma

Does mosaicism mean specifically those areas aren't affected, or that just random areas are unaffected and it just happens to be those areas for you?

throwaway2136865736 karma

It just means that random areas aren't affected.

0628686280213 karma

Are you treated with pain management medications, or do you just have to deal with it?

throwaway2136865354 karma

I take prescription pain medicine.

icecreamw104 karma

what medication?

throwaway2136865278 karma


kmj3637363 karma

I think its amazing that your face and neck are unaffected. I bet that definitely makes life easier for you. Can people easily tell/ ask you questions a lot?

throwaway2136865333 karma

My neck is affected pretty bad so they can tell when I wear tshirts. In hoodies it's completely unnoticeable except for my hands

bigblue_box357 karma

Wow, I didn't know there were different variations on EB. That's really interesting. My cousins have four kids and two of them have full-blown EB. I've seen the toll it takes on a person and family so you must be quite a fighter. All of the pain, bandages, and surgeries they have to go through is enough to make a person quite cynical so props to you for staying so positive! I didn't have a question, just wanted to say keep on keeping on and good luck with film!!

throwaway2136865175 karma

Thank you!

That_Unknown_Guy73 karma

I have a mild form of the disease


throwaway213686598 karma

Yeah. I'm very fortunate.

Jaksuhn797 karma

So how was going through school like for you ?

Also, do you have no fingernails (if yes, is that part of epidermolysis bullosa) ? It looks like that in the picture, or skin is covering it at least.

throwaway21368651433 karma

School was rough at times. Heat affects my skin pretty badly so I could never go out to recess when it was hot. I couldn't play contact sports and often had to sit out of gym due to blisters on my feet. I never really experienced bullying. K-6 was small enough that everyone knew me well and was used to my skin. They were cautious of me, but never mean. Going to a new school in 7-8 and 9-12 was intimidating. No one knew about my skin. They were all very curious, but very nice once they understood. I was always trying to hide my skin though, feeling embarrassed.

I was wondering if anyone would notice that! You are correct. No fingernails or toe nails. They fell of when I was young, which is a blessing. My skin itches a lot and scratching can cause it to tear, so no nails helps preserve it.

jumpup291 karma

how do you open cans?

lilshawn736 karma

with a can opener?

throwaway2136865632 karma

I can use a can opener. I was referring to soda cans. I don't have nails to get under the tabs with, so I have little openers to help. But I can get pretty creative. Anything to wedge under the table will work.

throwaway2136865261 karma

I have a couple little plastic gadgets specifically for opening soda cans

ZaphodBeelzebub91 karma

Wait... are you also /u/jumpup ?

throwaway213686589 karma


ZaphodBeelzebub128 karma

"I was referring to soda cans."

This part confused me.

umyaya4ever105 karma

I think he's referring to a different comment he made earlier in the AMA.

I often have trouble opening things, like bottles and cans.

Or at least that's how I interpreted it.

throwaway2136865116 karma

You are correct. Sorry for the confusion.

Squid_A58 karma

Try a spoon! When I worked at a bar that's what we would use cause we had no draft and had to open hundreds of beer cans per night.

throwaway213686590 karma

I have a couple plastic things specially made to open cans, but spoons are my go-to in a pinch!

Kobe-JuanGinobli1 karma

You can also pretty easily open cans with your teeth

throwaway21368658 karma

I've never tried. The skin in my mouth is also fragile, so it probably wouldn't be a good idea.

nola_mike4 karma

Fuck man, you can't eat Cap'n Crunch.

throwaway21368651 karma

Hahaha Never was a fan anyway.

throwaway2136865543 karma

I have! I never really associated it with my skin condition before.

yourcodenameisnick763 karma

How is it when you try or get intimate with someone?

Or, if you don't mind me asking (though I'm sure there's more people than myself who are interested) how is it when being intimate with yourself?

throwaway21368651201 karma

With myself it's completely normal. That area isn't affected. With others is different. I have been able to have sex, however it takes a very understanding partner. I also can't be completely naked due to the bandage I wear. I feel very insecure about it, but it's very possible.

illcatchfire424 karma

Some what related. Is this genetic? If you were to have a child (if possible?) would the child have a higher risk of this disease?

throwaway2136865820 karma

I'm not sure on children yet. My type is recessive which means if my wife didn't carry the gene we could have healthy children. However since I don't have it, the chance of a random mutation is higher. It would require genetic testing for my wife and a serious talk about what ifs. I do know people with the disease who have had perfectly healthy children. I would just hate for another person to go through this.

illcatchfire213 karma

Thanks for sharing. Best of luck with everything!

throwaway2136865199 karma

Thank you!

iammestaman207 karma

There's also the consideration that children you have could be carriers, so they would also have to take precautions.

throwaway2136865470 karma

Exactly. More than likely I'd choose adoption, or if my wife wanted one of her own I would consider a sperm donor. I certainly won't rule out one of my own, but I don't want to put anyone else through this.

iammestaman140 karma

Yeah, being a carrier isn't so bad since its such a rare disease, it's just important that any children would be aware of that.

throwaway2136865203 karma

My kids would definitely be aware, growing up around me. Kids aren't in the near future for me though, so I've got some time to think about it.

FilmmakerRyan274 karma

The fact that you have the ability to have sex makes me happy. Connecting with another human being on that deep of a level is, I think, essential to life and happiness. Nobody deserves to be held back from experiencing intimacy.

throwaway2136865403 karma

It makes me pretty happy too. :)

bristleypenguin68 karma

What bandage do you wear? How can you shower if not completely naked?

throwaway2136865151 karma

My bandage is 3x8 non stick pads with petroleum jelly on them, with rolled gauze over that, and a self-adhering wrap over that to hold it all in place. I remove the bandage daily before my bath, then reapply it after.

galacticboy2009597 karma

Is bathing/showering especially difficult?

throwaway21368651184 karma

Yes. I wear a bandage that covers my torso to protect the skin. That has to be taken off first, which is often painful. Then I take a bath with bleach in the water to help fight infection. Water is painful on the open areas. Then I have to air dry to avoid friction from a towel. Then the bandage is reapplied. On a good day it takes 30 minutes at the leat. Usually it's around its between an hour and 1:30.

ansermachin632 karma

Oh jeez, I'd think bleach is the last thing you'd want to put on your skin.

throwaway2136865791 karma

Surprisingly, it doesn't burn any more than the water. I add about 1-1 1/2 cups to the water, so it's not too much. Very helpful with fighting infection. I also occasionally use vinegar-soaked gauze.

ThatSteeve64 karma

Air dry = drip dry or with a fan/heater/magic contraption?

throwaway2136865159 karma

Drip dry. I dry my arms and legs with a towel, then just stand there for 10 minutes or so.

dot_ie7 karma

Bleach?! Like hydrogen peroxide, or something? Jesus... That's old-school... But if it works for you, then it works...

EDIT: You know infinitely more about this than me, but from Wikipedia I see that hydrogen peroxide might be falling out of favour in medical circles...

"Historically, hydrogen peroxide was commonly used for disinfecting wounds, partly because of its low cost and prompt availability compared to other antiseptics. It is now thought to slow healing and lead to scarring because it destroys newly formed skin cells."

throwaway213686524 karma

I use a chlorine bleach. It's not hydrogen peroxide. Although killing potentially deadly infections would be worth the scarring.

throwaway213686519 karma

It's pretty common for those with the disease. Very effective at killing infection. Surprisingly it doesn't hurt any worse than the water. It's only about 1-1 1/2 cups mixed in with the tub full of water. Sometimes I'll use vinegar-soaked gauze also.

genoesunheroe503 karma

How did it feel when you found out there was no cure for your disease ?

throwaway21368651155 karma

I've had the disease since birth so I grew up knowing. As for my parents it was devastating. It took a couple days to identify what the disease was because the doctors had never seen it. Doctors told me parents they didn't expect me to live 3 days. Yet here I am 20 years later.

There is lots of great work going on to find a cure. There are so promising studies being done with gene replacement, but I try not to ever get my hopes up.

damojocon395 karma

This comment made me really happy. I love when doctors are proved wrong. My mom was given a 1 year to live and she's still kicking 9 years later. Life truly is a miracle

throwaway2136865809 karma

It feels so great to prove them wrong. They tell me and my parents all the time that I'll never do this or I shouldn't do that. So I go do it.

xtremechaos262 karma

They tell me and my parents all the time that I'll never do this or I shouldn't do that. So I go do it.

This really made me smile. Good on you bro

throwaway2136865231 karma

Gotta let somebody motivate me! :)

Frensoa108 karma

Throwaway2136865 you should definitely not jump off this cliff.

I'll show them that I can do it !

throwaway2136865182 karma

I'd probably go get a parachute just so I could prove them wrong. :)

another_programmer76 karma

you'd probably want a wingsuit

throwaway213686565 karma

Probably a better idea.

runny6play49 karma

Is there a treatment regimen

throwaway213686588 karma

Just keeping the wounds clean and covered.

evelynsmee191 karma

Never heard of this disease, yet today I read My fight to save my daughter’s skin this morning and your AMA just now!

I found the bone marrow therapy interesting, and was particularly interested in the gene correction/replacement as there are many similarities with cystic fibrosis (ie the code to make certain proteins isn't working iirc?), which affects my family.

Anyway, I don't really have a specific question, but thank you for doing the AMA, I have been wondering about it since reading about the girl this morning, good to learn more, particularly that there were different degrees of it. Obvious really, but I hadn't thought of it.


throwaway2136865236 karma

It's great that one more person is aware now! The gene correction is very exciting and has the potential to cure over 4,000 genetic diseases! Thank you for taking the time to read.

ifmb63 karma

Since you have a mosaic defect, you would not require gene replacement. A biopsy of your "healthy" skin could be expanded in culture and grafted onto your more affected skin. This treatment approach is not standard of care, but is being tried in research settings.

throwaway2136865149 karma

That's been tried and has not worked. Eventually the skin breaks down and returns to a fragile state.

KarlPlays404 karma

Have you ever wanted to get a job somewhere, and later found out your skin would make that impossible?

throwaway2136865771 karma

Definitely. I can't work anywhere in the heat. I cant lift more than maybe 20 lbs consistently. And I can't work with food due to open wounds. I've never actually had a real job.

KarlPlays307 karma

How good are you with computers? Surely that would be a job path you could take? There are plenty of jobs in the area?

throwaway2136865816 karma

I'm good with computers. I'm currently in college studying video production. I'm working on becoming an editor.

z_formation293 karma

Good luck with that, man! Sounds like a really good fit and seems like you're passionate about it.

throwaway2136865417 karma

Thank you! I really love it. It's my way of story telling.

FilmmakerRyan215 karma

Something I did to teach myself how to edit was I would take feature length movies and edit them down to ten minutes with three acts. Each act would be edited to film music from another movie. And there would be no speaking. That way, I would have to tell the story solely through my editing choices. I highly recommend it.

throwaway2136865112 karma

That actually sounds really interesting! I may just try it! Thanks!

damojocon359 karma

Do you have bones made out of glass?

throwaway2136865318 karma

Thankfully my bones are perfectly fine.

AnthonyFergus313 karma

So how do you masturbate if that's even possible?

throwaway2136865624 karma

Thankfully, that's one area that's not affected.

majorgrunt736 karma

Amen. Gotta have the little things.

throwaway21368652060 karma

I hope that wasn't a pun...

SteveTheViking254 karma

First off, thanks so much for sharing your story with us! Secondly, I do have a few questions.

  1. Does your condition not allow you to form callouses?

  2. Are your finger prints effected?

  3. Does your skin have trouble scabbing? That wouldn't be fun considering your open wounds.

  4. Do you find yourself wearing gloves and long sleeve shirts all the time? Do/would they help at all?

Thanks again!

throwaway2136865279 karma

I'm just glad I can spread some awareness!

  1. I can form calluses, although it doesn't happen often. Most areas where calluses would form are covered in scar tissue. The one big callous I do have is on my foot and I sometimes get blisters underneath it.

  2. I only have finger prints on my pinky and ring fingers and one of my middle fingers. They are less scarred.

  3. It scabs normally, but heals slowly, and because it's so fragile, a wound will often reopen before it can heal. Some of them are also very large, over half dollar size, so they take a while to heal.

  4. I don't try to hide my hands. They don't bother me too much. And my arms and legs aren't affected. I do wear collared shirts or hoodies a lot to cover my neck though. Clothing doesn't offer any protection.

uch236 karma

At a recent Pearl Jam concert, Eddie Vedder spoke about EB. I had never heard on the condition before that. He was promoting Cause The Wave with the EB Research Partnership. He brought a young person with EB on stage and the two of them (Eddie and the child) waved to the crowd who went bananas waving back. I wasn't expecting a Pearl Jam concert to bring tears to my eyes, but man...onions. Anyway, you mentioned that your doctors had never heard of the disease and I hadn't either before that concert. My question is, what can the average person do to help? (Edit: I not reddit format good)

throwaway2136865237 karma

Yes, what Eddie is doing is great for EB awareness!

That's also a wonderful question. The best thing is to be educated about the disease and spread awareness. Even if it's just a simple "Hey check this out" post on Facebook. You can also help by donating to EB research here.

Rustyreddits138 karma

This AMA just slammed awareness down reddits throat. Good job, look at the number of views tomorrow and realize that you made a significant impact.

throwaway2136865154 karma

All I wanted to do was raise a little awareness. I never expected this. :)

Shunshundy180 karma

What do you do when you have an itch, since you can't scratch?

throwaway2136865286 karma

Usually I scratch anyway. It itches too bad not to. When I was younger I tool medicine to relieve the itching, but it doesn't work anymore.

Milkywayne100 karma

How do you scratch without fingernails?

throwaway2136865282 karma

The skin on my hands is fairly rough due to scar tissue. It's actually a good thing I don't have nails though. It would cause a lot more damage to the skin.

mooplee167 karma

Thank you for doing this AMA! I to suffer from this condition but albeit in a more mild form. Mine was also late onset (mid teens, now early 30s). It is always a constant struggle to be careful and to try my best to not let it affect my life. It is hard though when basic tasks if done clumsily could result in knocking off a huge layer of skin.

If you ever need anyone to chat with who can relate somewhat let me know.

With regards to the blisters, how do you handle them? Mine seem to be watery blisters that do not go away if left alone so I end up just breaking them and then following basic first aid. I figure there has got to be a better way. Any tips for an EB bro?

throwaway2136865123 karma

Nice to see a fellow EBer! As for blisters, I pop and drain them with a sterile needle and gauze. You might want to check out this Facebook group. There's all kinds of good info and people to answer your questions.

lululxgend128 karma

Do you have to take any medication for it ?

Has it ever hindered you from perusing your dreams ?

Last question , when you was little, what did you wanna be when you grew up ? :)

throwaway2136865262 karma

I take Oxycodone for pain a few times a week. I also take Atarax for itching, although it doesn't really work after taking it for 20 years. I also occasionally take Miralax. My body loses lots of fluids through my open wounds and that can cause constipation. I'm also take antibiotics a lot for skin infections.

I'm currently working on pursuing my dream of being a filmmaker so not too much. It has however stopped me from doing a lot of things I wanted.

It depends on what day you would've asked. It varied between car designer, lawyer, and ambulance driver.

alyssa-dcc432 karma

Hahahahahaha ambulance driver. Kids are weird. I wanted to be a house.

throwaway2136865299 karma

Hahaha a house?? And I was never interested in the paramedic part. I just wanted to drive an ambulance really fast with the sirens on.

alyssa-dcc199 karma

To be specific, a blue house with pink polka dots. I was a way cooler 5 year old girl than I am now at 20, haha.

throwaway213686594 karma

That would for sure be a very colorful house! What does one do as a house though?

ThatSteeve92 karma

I'm likely not the first to suggest this: make a documentary about YOU!

Your AMA and story has me rapt. From the uniqueness of your condition itself, loving so much longer than doctors anticipated, and your spirit... I'd watch it! By spirit I mean you come across as well adjusted, thoughtful, and most surprising positive not bitter or angry! I may be jaded...

Indiegogo it! (If you do PM me do I can promote it! Not a pro or offering a service. Just a Canadian which = a keener!)

throwaway2136865104 karma

Thank you very much! I've thought about it, kind of a "year in the life of" thing, but I don't want to seem self-absorbed or anything. Thank you so much for your kind words and support though!

lululxgend43 karma

Ah man, your rattling with all them drugs .

I study medicinal chemistry, I'm looking into synthesising new antibiotics at the moment . I'm always intrigued about different tablets people take, so thanks for the reply.

Film maker- that's pretty cool ! Best of luck with it :)

throwaway213686560 karma

Those are just the ones I choose to take. I get prescribed crap all the time. And please continue work with antibiotics. Between developing tolerances and allergies, my options are few. Also, my throat is affected which means I can't take pills or capsules. So try and make some liquids too! :)

Thank you!

onrocketfalls26 karma

I didn't even consider the possibility that inside of your mouth or throat could be affected. What's your diet like?

throwaway213686541 karma

Yes, my mouth and throat are affected. For the most part my diet is completely normal. Sometimes when I get a blister in my mouth I have to avoid salty foods, and I get strictures in my throat that can limit me to soft foods at times. I've had 14 dilatations to open my esophagus.

icanmakesound11 karma

Do you have any short films or anything that we could watch? I'd love to see your work!

throwaway213686549 karma

I don't have anything that I've done personally worth showing, but here's a few I've worked on and edited for a club I'm in.

Business Casual Slumber Party

Meet The Family

If Men Had Boobs

The Big Score

BakedTrex5 karma

I also have a dream of becoming a filmmaker. What fascinates you most about being one?

throwaway21368659 karma

I like being able to tell a story and show someone my vision.

IGottaStopTrolling-20 karma

Mind hooking me up with some Oxy?

throwaway21368658 karma

Haha with the laws on pain medications it's hard enough to get what I need.

BoomSaucey74 karma

Might I just say, you have some beautiful knees!

As far as my question goes, why aren't your knees affected?

throwaway213686594 karma

I have no idea. I used to get blisters behind my knees, but haven't in years. But thank you for the beautiful knee comment!

Pugs50169 karma

Do you have any friends or family members with Epidermolysis Bullosa?

throwaway2136865104 karma

No one else in my family as far back as we can trace has the disease. I have an older brother that is perfectly healthy. I don't have any close friends with it, but have met some through a support group in my state and I've met lots through groups on Facebook.

bakbakgoesherthroat65 karma

No troll. Have you ever resented your parents for passing this disease onto you?

throwaway2136865145 karma

Not at all. No one as far back as can trace on either side of the family has had the disease. They hadn't even heard of it before. I don't blame them for it at all. They've been very supportive and tried to give me the best life they could.

banana_pirate59 karma

As a kid, have you ever dreamt about becoming a super-hero\villain?

If so did you condition reflect in your super-hero\villain motivation or powers?

throwaway2136865110 karma

I definitely thought about it, but any time I used my imagination I was always perfectly healthy. I always wanted to be as normal as possible, and to this day don't really like discussing it. Thus the throwaway.

Copterwaffle47 karma

Have you ever seen the BBC doc on Jonny Kennedy? Your thoughts on it?


Do you also have a similar risk for skin cancer that he did?

throwaway213686554 karma

I've heard a lot about it, but haven't had a chance to watch it yet.

His subtype is much more severe than mine. While skin cancer is a very real possibility for me, it's not as likely as those with more severe subtypes.

Copterwaffle67 karma

Brace yourself if you do watch it, it's very sad. But also uplifting at the same time.

The part that struck me most was when they showed his mother helping him change his bandages. It gave me a sense of how incredibly painful this disease was for him. Shortly after that they discuss whether, if the mother had been able to prenatally test for this, would she still have had Jonny. She says absolutely not, and he agrees with her. It's a very honest moment.

throwaway213686593 karma

It definitely is painful, but we get through. Neither of my parents had testing. I have an older half sister and older brother that are both perfectly healthy. I've never asked my mom that question because I don't want her to have to answer it. I know she loves me very much and would do anything to help, but I don't want her to have to say she wouldn't have me, even though I pretty much know it true. She has said if I was her first child, she never would've had another.

Oopsie_daisy38 karma

Not really a question, but my French teacher wrote a song about a little girl in our community who has the same skin disease. I thought you might like to take a listen! (link)

But my actual question: how rare is the disease? Have you ever met someone else who has it?

throwaway213686566 karma

Thank you so much for sharing that! It really made me smile.

Epidermolysis Bullosa occurs about 1 in every 50,000 births. My specific subtype is even more rare, only 17 people in the world are registered with it. I've never met anyone by chance with it, but have met some people personally through a support group. I also know lots of people of Facebook with it.

Honeycone33 karma

If you're in strong wind, will your skin get sore or damaged?

throwaway213686548 karma

No. It's not quite that sensitive.

Wildcat787833 karma

What causes your condition, and why is it localized to just your hands, feet and torso? Are there any experimental treatments in the works that could eventually help or cure you? If they were to graft unaffected skin from other parts of your body, or from lab-grown skin would it remain healthy or return to the thin, sensitive state?

throwaway213686565 karma

Epidermolysis Bullosa is caused by a genetic mutation. The mutation causes a deficiency is the protein that anchors the top two layers of skin together. Why mine is localized the way it is is unknown. It's called mosaicism and is unexplainable. There is some great research going on, especially a process of repairing genes, which could cure over 4,000 different genetic diseases. Skin grafts, whether from the patient or lab grown, do not work over time. As the skin breaks down over time, it becomes affected again. Sometimes it will work temporarily, but the trauma from the donor site or the inconvenience far outweigh the benefits.

Klomorax30 karma

Where do you work? And what's the environment there like? Have you had any big accidents which have resulted in a bad way on your skin?

throwaway2136865120 karma

I don't have a job and never really have had a real one. It's hard to find one when I can't be in the heat, can't lift a lot, and can't work around food.

The worst single event that's happened was very traumatic. I tripped and fell onto asphalt. When I caught myself all of the skin on the palm of my hand ripped off. It was filled with pieces of asphalt. I had to go to the hospital and have the skin removed, then spent hours over the next few days scrubbing it, getting out the pieces of pavement.

Klomorax25 karma

Sound painful, how long ago was this? And does typing on a computer not irritate your hands? Or using a mobile phone? (cellphone)

throwaway213686543 karma

That was about 12 years ago. It happened again a few years later, but on a gym floor. My hands are fairly tough now due to scar tissue. Typing doesn't bother me. Some things will cause my hands to be sore though if I do them long enough. Any hard labor wears them down pretty quickly.

AriaGalactica28 karma

Do you have fingernails?

throwaway213686562 karma

No fingernails or toe nails. They fell of when I was young, which is a blessing. My skin itches a lot and scratching can cause it to tear, so no nails helps preserve it.

cajundharma26 karma

thanks so much for posting this to help raise awareness. I know it's hard to put yourself out there. My 16 year old daughter Cassie died from complications of EB in January. We've been trying to raise awareness through a film called Black Hat that's going to feature a character named after her(https://www.facebook.com/blackhatcassie) and some of the proceeds will go to EB research. Are you interested in possibly pursuing the bone marrow transplant that Dr. Tolar's team is doing in Minnesota?

throwaway213686514 karma

I'm so sorry for your loss. I've heard about Cassie's story. As for the bone marrow transplant, I was told that I wouldn't be a candidate because my quality of life is too high. I'm hoping to participate in some other studies though.

SignorePinguino15 karma

My sister has the same disease. Living with a relative who has it is tough, so I guess my question to you is how has your family life been impacted?

I can only speak for my own family but its caused a lot of problems for us all emotionally. I'm was curious if it was just our family having issues or if it was a more common thing.

throwaway213686526 karma

It definitely puts a strain on us at times. I feel like sometimes my older brother gets pushed to the side and I hate that.

EnviousLeak8 karma

Can you do sports like everyone else? Or will your skin tear?

throwaway213686510 karma

I've never been able to play sports competitively. My skin is way too fragile. However I have able to play some on my own. My brother and I used to play baseball in the yard all the time. And I can go for a run or shoot a basketball as long as my feet aren't in too bad of shape.

joelmooner8 karma

How does your penis look?

throwaway21368657 karma

Completely normal.

Multifoliate-Rose3 karma

Have you met anyone else with your condition?

Although there is no cure yet, do you know of any research that looks promising? Are any researchers actively trying to develop new therapies? And if so, have you worked, or are you currently working with these people?

Thank you for your reply.

throwaway21368657 karma

I have met others through a support group in my state. I've also met lots of people in Facebook support groups.

There is lots of research going on for multiple different approaches. The most promising right now is for a process of removing and repairing genes then reintroducing them to the body. Although its primary focus is on Epidermolysis Bullosa, it has the potential to cure over 4,000 genetic diseases. I'm not involved in any studies for a few reasons. Usually they take place too far away to be practical. I also don't like to get my hopes up. And for some studies the risks are too high. I'm a mild case and am sometimes not eligible because my quality of life is good compared to others.

masterworknipple3 karma

So how does masturbating work? Or sex because heat affects you. Sorry if i came off as insensitive.

throwaway21368658 karma

It works the same for me as everyone else. Thankfully that area isn't affected. Sex does take a very understanding partner due to the fragile skin and some physical limitations. As for getting hot, there's certain moments where I kinda stop worrying about my skin and just enjoy the moment. Sex is one of those times.

Mr1derful8162 karma

Who is your favorite superhero?

throwaway213686512 karma

I've never been a big superhero fan. I'd say Batman, but he doesn't really count. He's just rich. Mermaid Man maybe?

Mr1derful8168 karma

Mermaid Man counts!

throwaway21368656 karma

Well then that's definitely my choice!

SpookyScarySkelemans2 karma

Do you take part in any charities to help raise money or awareness?

A teacher at my old school had it and he help spread awareness around the school and around the community.

Thanks for doing an A MA!

throwaway21368652 karma

I've done some in the past and have family that does. I try to be as normal as possible and that often means not talking about the disease, which isn't good for awareness I know. I often feel embarrassed by it, which I shouldn't because I can't help it, but I guess I don't like the judgments or special treatment.

BloatedJellyfish2 karma

Sorry if this has already been asked but is there anything you feel like everybody should know about your disease?

throwaway21368653 karma

Specifically no. Just be aware that it exists. I really did this AMA to spread awareness. I'm very fortunate in having a mild form. Many children don't make it to their first birthday.

Soliquidus2 karma

Are you currently in a relationship?

throwaway21368653 karma

I am not. Dating is hard for me. It takes a special person to understand what I go through and to be able to deal with it also. It's hard for me to truly open up about it because it seems like as soon as I show someone me at my worst, they can't handle it and leave. It also doesn't help that I have a total baby face and look 15 on a good day.

Soliquidus1 karma

That sucks, man..I really hope you find the right person. Don't give up looking. And is there any chance we can see your face? I don't mean to be pushy, just curious

throwaway21368653 karma

I'm not giving up. And I suck at taking selfies but here you go

roguesarah2 karma

Thank you so much for answering all of these questions! I must say, I agree with your superhero choice. Mermaid Man is the shit. On the topic of Spongebob, which is your favourite episode? Mine is the episode where they go back in time in that weird elevator thing.

throwaway21368653 karma

That's a really tough question. It's probably the one where Spongebob goes to visit Sandy and tries to go without water.

fingermebooty1 karma

Do you play any video games?

throwaway21368652 karma

I have a 360, but don't play too often. Maybe a couple times a month.

curemode1 karma

Do you ever feel angry at God and if so, how do you reconcile your condition with a loving God? Thank you for doing this AMA.

throwaway21368655 karma

I don't ever necessarily feel angry with God. Often times I don't understand it. Sometimes I get angry for certain events that happen though. Many people at my church have told me that God made me to inspire others with my strength and willpower. That's nice of them to say and sometimes it makes me feel good, but I don't really feel like I'm that important. My faith has helped me get through some very tough times.

curemode1 karma

I'm going through tough times right now and just hearing your story has given me some inspiration.

throwaway21368652 karma

Thank you. And keep your head up! I know all about rough times, and it always seems to get better.

curemode1 karma

That's true. I've gone through very rough times before, and they always got better, but whenever I'm in the middle of one it often seems like it will last forever and never get better. I'm slowly learning to keep more positive though. :)

throwaway21368652 karma

You just have to keep moving forward! :)

flemmorg1 karma

Do you play any MMOs?

throwaway21368652 karma

Nope. Never been into them really.

TheyCallMeTterb1 karma

What's it like to be Bruce Willis's arch enemy?

throwaway21368652 karma

I have to be honest. I don't understand your reference.

throwaway21368651 karma

Ah now it makes sense. Never really liked Bruce Willis anyway.

Berzerkur1 karma

Is there some thing you can use to alleviate the symptoms?

throwaway21368652 karma

Not really. Just pain medication.

GetFreeCash1 karma

What's your favourite James Bond movie?

throwaway21368655 karma

I don't really have a favorite. The classic ones are the best though.

muffin_souls1 karma

What music do you like?

throwaway213686516 karma

I listen to mainly country and pop/alternative. Taylor Swift, Mumford and Sons, and Blake Shelton are my favorites.

RagingNerdaholic1 karma

Wow, that sounds rough :(

Are there any treatments available for it? How effective are they? Or is it just a matter of managing it?

throwaway21368652 karma

There's no treatment. There are some promising studies going on right now, but nothing so far. It's mainly just managing pain and fighting off infection.

[deleted]1 karma


throwaway21368651 karma

I don't have fingernails or toenails. They fell off when I was very young, as is common with the disease.

boxhead992 karma

Could you please post pictures of your toes?

throwaway21368652 karma

I just added an album to the main post that has pictures of my toes in it!

lissit1 karma

are essential oils especially dangerous for you? Do you absorb more through your pores?

throwaway21368652 karma

I have to admit, I'm not really familiar with them. I don't use any oils or anything though. I tend to be allergic to a lot of fragrances.

VerumInInanis0 karma

What will you most likely die of?

Can you have sex/masturbate?

Are you going to have children or let those faulty genes die?

throwaway213686512 karma

With many subtypes of Epidermolysis Bullosa, skin cancer is very common. Fortunately with my type it's not. If I die of something due to the disease it will most likely be a skin infection. I fight infection regularly and have had a couple scary instances of ending up in the hospital with a 105° fever on strong IV antibiotics.

Fortunately my reproductive system works just fine. I have been able to have sex, however it takes a very understanding partner. I also can't be completely naked due to the bandage I wear. I feel very insecure about it, but it's very possible.

I'm not sure on the children yet. My type is recessive which means if my wife didn't carry the gene we could have healthy children. However since I do have it, the chance of a random mutation is higher. It would require genetic testing for my wife and a serious talk about what ifs. I do know people with the disease who have had perfectly healthy children. I would just hate for another person to go through this.

bloatedjihadi1 karma

Do you want children?

throwaway21368652 karma

I'm not 100% sure yet. I think so, especially if I could have my own, but I'm not at all against adoption. It just depends on where life takes me and how my health holds up.

jmpherso1 karma

As a secondary question, can they do testing for your disease prior to birth?

If they can, and the fetus tested positive, do you think you and whoever your partner was would consider aborting and trying again?

throwaway21368652 karma

I honestly don't know if prenatal testing can be done for it. Genetic testing can be done on the parents beforehand, however my parents had no reason to get it done. I have a perfectly healthy older brother.

As for your second question, I truly don't know. I've thought about whether they would take me back of they could, but I won't ask. I don't blame them for my disease and don't think it'd be fair to put them in the position to have to answer that.

jmpherso1 karma

Well it likely depends on other factors. If they (or you) are religious, you might heavily lean towards no based on that.

That being said, I think saying yes is a totally respectable answer! Even from your parents, it clearly has nothing to do with the future person the baby will be become.

throwaway21368652 karma

I know my mom is anti-abortion except in instances of disability for the baby, so I truly don't know. Either way they've given me the best life they could and I wouldn't want to be anyone different.

ohshitimincollege7 karma

Sheesh, little blunt with that first one

throwaway21368654 karma

It's a common question though and I don't mind answering it.

thatonecantoneseguy0 karma

Hello, does your fragile skin make your life harder than an average person?

throwaway21368651 karma

Definitely so. I always have to be careful with heat, infections, friction, lots of little things most people don't think about. But I adapt.