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IamA 10 year old with a rare neuromuscular disease. Call me Toomee, and AMA!
Hey Reddit, this is Toomee's dad. I'm going to help translate and transcribe questions and answers. I'm also going to try and record responses so you guys can hear what he has to say straight from the horse's mouth. Any of the answers posted to the thread should be a word-for-word representation of his response. If I have to interject anything for context or clarification, I'll make sure to tag the response appropriately.
Toomee (a nickname, his real name is Talen) was diagnosed with a neuromuscular disorder called Duchenne's Muscular Dystrophy at age 6. DMD is actually the most common, and one of the most severe, among a a larger group of diseases known as dystrophinopathies. It is caused by a genetic mutation in the dystrophin gene. The dystrophin gene is one of the longest known genes, and it actually encodes a number of isoforms (different functional proteins) that can affect various parts of the body including the eyes, kidneys, and brain (http://www.dmd.nl/isoforms.html). The most well-known affect of any dystrophinopathy is the impact it has on muscle tissue.
In a healthy muscle cell, the dystrophin protein serves as an anchor between the cell's multiple membranes. Yeah, I know, I never knew that cells could have multiple cell membranes until he was diagnosed. Dystrophin aids the cell in stretching and rebounding to its normal state, kind of like a spring. I feel like it would be easier to visualize with a gif, but for now here's a picture that I googled for you guys: http://what-when-how.com/wp-content/uploads/2012/04/tmp5F4.jpg
DMD almost exclusively affects boys, as the dystrophin gene is located on the X chromosome. Girls who carry the mutation can sometimes exhibit symptoms of the disease, and are at a higher risk for heart disease. The disease can also occur from spontaneous mutation in-utero, but that is fortunately much less common than heritable transmission. The boys who are afflicted with DMD are unable to encode the primary isoform of the dystrophin gene. As a result, over time their muscle tissue will rupture and scarify, resulting in a complete loss of function. An early indicator of the disease is something called 'pseudo-hypertrophy' of the calves, where the boy's calf muscles swell from the development of fibrotic scar tissue. Pic: https://pbs.twimg.com/media/CezfZ6iWwAAGzno.jpg
Other symptoms of the disease include frequent falls, fatigue, lack of coordination, loss of bone density, contractures (painful, involuntary contractions of muscle tissue), cardiomyopathy (heart disease), respiratory impairment (resulting from impairment of the diaphragm muscles), and an elevated risk of behavioral disorders. DMD can have some variation in the expression of the disease, but the rough progression of the disease has historically been a complete loss of ambulation somewhere around age ten, followed by progressive loss of additional motor functions in the arms, hands, neck, and trunk through the teen years. Respiratory issues commonly required a tracheostomy tube around age 20. Until recently the average life expectancy was somewhere in the early 20's, with congestive heart failure being one of the most common causes of death in people with the disease. DMD is incurable and 100% fatal, but improvements in treatment have increase the average life expectancy well into the 20's, with some cases living into their 30's.
In Toomee's case, he was diagnosed a little later than most boys. He was hospitalized right before his sixth birthday with a severe case of pneumonia, and he spent about a week in the ICU. While he was there, an elavated liver enzyme count prompted doctors to recommend some additional testing. The gastro specialist we went to see ran a CPK (creatine phosphokinase) panel and our guy came back with results in the 90k range, which indicated some kind of severe myopathy. We were referred to a neurologist, who ordered the genetic tests to confirm the diagnosis of DMD. Specifically, Toomee is missing the exons from 48-54 in the dystrophin gene, which results in a non-functional protein. In the years since his diagnosis, he has spent a lot of time in hospitals. In 2012, he developed rhabdomyolysis, which is a sudden and rapid breakdown of a signfiicant amount of muscle tissue. In 2013, he slipped on the wood floors in our old home and broke his femur, right before his 7th birthday. We started going to the local MDA clinic, where he was started on a corticosteroid called Deflazacort which we have to order from the UK because it's not currently FDA approved (though that might be changing). In 2015, we decided to start making the trip from Charlotte, NC up to Cincinnati Children's Hospital so Toomee could see Dr. Wong, who is one of the nation's leaders in treatment of the disease. She recommended that we bring him in for heel-release surgery, so in the summer of 2016 we drove up to have the procedure completed at their hospital.
He has been poked, prodded, examined, and cut over the past four years. I won't pretend like he loved every minute of it, but has maintained a funny, upbeat disposition in spite of everything. He surprises me sometimes with his quirky (sometimes crude) sense of humor.
Toomee is a huge fan of wrestling. He recently made his "wish" to go to Wrestlemania, and thanks to one of the major wish-granting non-profits in the area, he's going to Wrestlemania 33 in April of this year. He is also a big fan of video games. He has been mostly a console gamer until recently, but Santa brought him a steam machine for XMas so he's starting to come around to the PCMasterRace PoV. He's also big into comics and superheroes, like most boys his age. A few days ago, I asked him if he wanted to answer questions from people on the Internet. He is getting a kick out of the idea that random people might take an interest in him, so ask him anything at all. He has some strong opinions on wrestling, games, and comics, but he comes with some off the wall responses to unexpected topics so ask him anything. I will relay (and translate if it's something he might not understand) and record the response for you guys.
Sent proof to the mods, so we'll wait for verification and start responding once we hear from them.
Thanks!
FINAL EDIT: I think things have wound down, so we're going to shut down the personal fundraiser. I'm going to have the little guy send some kind of thank you out to everyone, so if you made an anonymous gift, DM me your contact info and I'll make sure he sends you some token of appreciation.
Since this post seems to have gotten some attention, here are some charities/non-profits that I am not affiliated with, but which have made a profound impact on our family over the past few years.
PPMD
PPMD (Parent Project Muscular Dystrophy) is an awesome organization that raises money that goes towards research for treatment options, among other things. Given the length of time that we have known about DMD, the lack of progress towards a cure is frustrating. Part of the problem is the logistics of genetic diseases in such a large gene, but I can't help feeling like part of the problem is the smaller population size of these orphan diseases. PPMD was also a great source of information when Toomee was first diagnosed. When he was first diagnosed, it felt like a lot of pediatricians and specialists backed away and set us adrift. I can't imagine what it was like for parents of kids with DMD before the Internet.
[http://www.parentprojectmd.org/site/PageServer?pagename=Fundraise_donate](Here is their donations page) [http://www.amazon.com/?&tag=pareprojmuscd-20&creative=397313&camp=211173&link_code=ur1&adid=15HWSYSBQ1B5ZH41N3QY](This is their Amazon Smile link.) Amazon Smile is an affiliate program where anything you buy using the Smile link generates some percentage revenue for charity. It doesn't cost anything extra, so it's a good way to donate Jeff Bezos money to a worthy cause.
The MDA
The MDA (Muscular Dystrophy Association) is a bigger charity, with all of the pros and cons that come with being a larger non-profit. I think their funding has been reduced in recent years. From what I understand, their service portfolio is smaller than what it was back in the Jerry Lewis Telethon days, but they still do a lot of good for kids with DMD. They organize clinics geared towards holistic care. They pay some of our co-pays when we go to Cincinnati Children's Hospital. Maybe most importantly, they organize the MDA summer camps where kids like Toomee can be around other kids who aren't going to leave them behind.
Our local coordinator, Lucas, has gone way above and beyond to help our family since our son's diagnosis. I think his official job duties pertain to medical coordination, but at times he has acted as a counselor, friend, research analyst, advocate, and I don't know what you call the person who pushes you to do things that you don't want to (but are good for you), but he's done a bit of that too.
I don't think the MDA does the telethon anymore, but there are chapters all across the country that arrange various fundraising events. Locally I have seen MDA lockup events, Marathons/Muscle Walks, firefighters "filling the boot" for the MDA, and a couple of major retailers will sell [https://www.mda.org/get-involved/shamrocks]('Shamrocks') for $1 or $5 that generate funds for the MDA.
[https://secure2.convio.net/mda/site/Donation2?7651.donation=form1&df_id=7651](The MDA's direct donation page is here, though.)
Make-A-Wish
Make-A-Wish does a lot of awesome things for kids with life-threatening diseases like DMD. You can't really appreciate how much of an impact some of these wish granting organizations have until you experience it, but they give a lot (financially as well as time and energy) to make some amazing things happen for kids. Toomee is at a transition phase with his disease, where the degenerative impact of DMD along with the inevitable side effects of chronic glucocorticosteroid usage is starting to become more significant. The differences between him and his classmates are starting to become more noticeable, and it has an impact on his emotional well-being. Make-A-Wish and the other wish granting organizations have a very immediate impact on these kids' lives. Not only do they make it possible for kids to travel with their families to events like Wrestlemania, they make a lot of things happen that money can't really buy.
Plus, the local coordinator for Make-A-Wish has put up with a fair few neurotic emails from parents who are obsessing over making their kid's wish perfect. I'm not saying it was from me,but ok, maybe some of them were.A few of them.Like, maybe one or two.At most.
[https://secure2.wish.org/site/SPageServer?pagename=donate_now&chid=100-000](The Make-A-Wish donation page is over here.]
This was a fun experience, Toomee had a blast, and to be honest, so did I. I can't promise we'll be able to make any more video responses, but as long as I see any comments I'll try to get a response from the little dude. Thanks for everything!
caskethopper510 karma
Hey! What's up DMD-bro?
He says that his favorite dessert is the chocolate cake at Ikea.
Video Response: https://youtu.be/a_KiV4oXiDE
ireallylikesculpture11 karma
What led up to your diagnosis? I have a little boy who is coming up to his first birthday but is falling behind on almost all of his developmental milestones and has particularly low muscle tone. Most kids are starting to walk now and he cant even crawl or roll consistently. Hes under physio and we are waiting for more detailed tests at a childrens hospital, certain 'theories' behind his issues are being whispered, DMD included but I just wish I had answers.
caskethopper5 karma
I'll post his video response, and I'll give you the short answer here. If you want, you can DM me and I'll share whatever I can. The short answer is that it's probably appropriate to have your son tested if he's missing milestones and has low muscle tone. What tripped the alarm for Toomee was a sudden case of pneumonia. He was in ICU for about a week, and they noticed something elevated in his liver enzymes. I thought it was from the IV antibiotics at first, but eventually he had genetic testing and confirmed it was DMD.
In our son's case, he was actually walking right around 1 year old, and aside from the number of slips and falls the only thing we could have caught was the pseudohypertrophy of his calves. People used to comment on how big his calves were when he was a toddler. We just assumed he was going to be stocky when he got bigger.
Video Response: https://youtu.be/upqNfUSppt4
caskethopper1500 karma
He said his favorite joke is, "Your momma is so ugly she made the illuminati shut its eye."
Video Response: https://youtu.be/AJnR1P-mXDE
mirandaedwards1263 karma
Do you have any other friends with DMD?
I have DMD aswell, I'm 22 and have been with my girlfriend for 6 years. Anything is possible and your a true inspiration bud! If you ever need anyone to talk to you can message me! I'm in NC too, if you ever wanna meet id love to.
Thank you for sharing your story and answers!
caskethopper196 karma
He said not really. He knows a few kids that he has met once or twice, but they haven't really hung out.
Toomee pretty much gets along with anybody. He hasn't been to the MDA summer camp, but we're planning on sending him this summer. Hopefully Lucas (the local MDA coordinator) sees this, because he's been after us to send him for a few years now.
We've tried befriending some of the families around here but I don't know, just didn't seem to click. Like I alluded to in another post, it's hard when you don't have anything in common but a disease. Not giving up on it, though.
Video Response: https://youtu.be/yLkR0xkDNys
Chtorrr204 karma
What is your favorite food?
Is there any gross food your dad makes and he needs to stop?
caskethopper448 karma
He said his favorite food was ribeye steaks. He said that his dad does not make gross food, but he'd appreciate if his mom stopped making fish tacos.
Video Response: https://youtu.be/EKG7chP8a3o
lapzkauz177 karma
Hello, Toomee! Would you rather have the ability to stop time, or the ability to fly?
caskethopper458 karma
He said that he would rather be able to fly, because if you stop time you're by yourself and he doesn't want to be alone.
Video Response: https://youtu.be/scKFlSyqsU8
A_lonerist144 karma
Hi Toomee! My question is: if you were elected king of planet earth, what is the first thing you would do?
caskethopper351 karma
Ok, so this one threw him off for a minute. I guess the idea of all that power had him confused about what to do first, but he said his first act would be to create an amusement park and name it Toomeeland.
Video Response: https://youtu.be/QM9v8E0XE4w
A_lonerist24 karma
Hahaha I apologize! But thank you for your time! I would definitely support that action!! And tell him he's already WAY cooler than Donald trump... Cheers
16stanley1627 karma
Why would you inject politics into this thread, I'm feeling a comment war coming (╯°□°）╯︵ ┻━┻)
caskethopper36 karma
To be fair, the little guy did make a reference to it, but generally speaking I figure we've got enough problems in our immediate vicinity without going out to look for political arguments. He's got his own opinions, though.
ThankCaptainObvious136 karma
Who's your favourite superhero? And if you were to have a super power of your choice, what would it be and what would you use it for?
caskethopper335 karma
He said he has two favorites: Deadpool and Batman.
If he could pick a superpower, it would be regeneration. He would use it to avoid getting killed. Still unknown: How often people are trying to kill him.
Video response: https://youtu.be/CmIkllejx5k
Hollyfeld_Lazlo129 karma
My older brother had Duchenne's. The treatments he received in the 1980's and 1990's probably pale in comparison with what is available now. He was, and remains, a tremendous influence on me, and I think of him daily.
One of the things that helped him persevere was setting goals. He completed a Bachelor's degree in Industrial Engineering (not the easiest field of study for someone with limited mobility), was active in his fraternity, and worked in an office after graduation.
My question for Toomee is, what's your next goal?
caskethopper159 karma
He's starting to warm up to the whole "talking to the internet thing." This was a tough question for him, though. He had been talking about taking some kind of self-defense classes recently, which I think was prompted by some adaptive self defense videos I showed him, but he might have moved on from that.
His final answer was that he would like to go to the local "School of Rock" with his older sister and sing in the band.
Video Response: https://youtu.be/8U5W-FPXeoE
He didn't say this, but I wanted to say that your brother's story is pretty inspirational. I don't know if anyone else would understand how big of an accomplishment that would be, given the disability and especially the time frame you're talking about, but I do.
caskethopper17 karma
I actually train at a place that teaches BJJ along with some other disciplines like Krav, Muay Thai, and Judo. I'm talking to them about the possibility of him training, but it's tricky. His bone density is way lower than normal, so he's injury prone. He's not going to be able to practice break falls or anything like that, and it wouldn't take much for another kid to accidentally break his arm in a double wrist lock. So I don't know how feasible it's going to be, but I hate the idea of throwing roadblocks in front of him.
I did start following this guy Brandon who has Cerebral Palsy and makes a lot of videos on adaptive self defense recently. His blog and his facebook. It looks like he does private lessons, but I haven't reached out to see if he is local.
Sciencewars127 karma
Hey! Toomee, how do other kids feel about your condition?
Also, to the parents: How did you feel when they were diagnosed?
caskethopper267 karma
He said that other kids accuse him of faking his condition. He uses an electric wheelchair for school, usually for when he has to walk longer distances, and I guess they think that since he can walk he must be faking.
He also said that some of the kids in his class try to help him carry things.
As for us, I could write a book about how it feels to have your son diagnosed. In a sense, you go through the entire grieving process, the same as you would if you had lost your child, because in a sense you have. You've lost the child you thought you had, if that makes sense.
At the same time, you have to try to keep it together, because your kids need you to be the parent. As a dad, you want to try and fix it, but you can't. I could go on and on, but the TLDR is that it feels bad, man.
I'll also say that it puts a lot of strain on your relationship. Divorce seems to be common with a lot of the other parents we've met, with the dad checking out pretty often. I don't know what the stats are, but I seem to remember that it's not just my anecdotal experience.
Last thing is that you get pushed into social situations with people who you lack any common ground with aside from your child's diagnosis. It feels like a lot of the other families are trying to put on this saintly front, and I don't know, maybe they just have their shit together better than we do, but I always suspect they're faking it.
Video Response: https://youtu.be/qkh962IsVkM
Falling_Charizard27 karma
My SO works in behavioral health. Obviously slightly different than working with people who are physical handicapable. But at least from helping her out with kids and families, IMO they the families who appear to have it all figured out are faking it putting on a front so to speak.
Edit: context. Thanks /u/barrymanpeach for clearing things up before I could edit.
caskethopper11 karma
I knew it. Ask your SO if I should call them out on their bullshit.
Kidding. Unless they think it's a good idea.
dolphinater89 karma
If you had to create a superhero what 3 powers would you give him?and what would you name him?
caskethopper213 karma
He said his three powers would be the ability to summon the undead, regeneration, and claws. I asked if he was basically describing a kind of necromancer version of wolverine, and he said yes.
He would name his superhero "The Nightmare."
Vid Response: https://youtu.be/UAwlv5H-0Uk
motherofcats_61 karma
Having also grown up in hospitals, do you have a favorite nurse/hospital worker and why?
caskethopper82 karma
He said his favorites are Dr. Wong (neurologist at Cincinnati Children's hospital) and Scott (Physical Therapist at the MDA clinic in Charlotte).
Video Response: https://youtu.be/2MRtPdnsnog
motherofcats_36 karma
Thanks Toomee, I loved the video response :)
My Fiancé has a question for you too! Do you like punk-rock like dad does?!
caskethopper77 karma
Yeah, he likes punk rock. I asked him what his favorite punk band was, he said The Clash.
Video response: https://youtu.be/JIfaffo0BcA
YoxScorpion61 karma
Hey Toomee, what kind of music do you like to listen to? Btw, nice Adicts shirt, Toomee's Dad.
caskethopper118 karma
Word! The little dude actually got me the adicts shirt for xmas. I mean, he used my money to buy it, but he picked it out.
He went on for a bit. He likes punk, pop-punk, emo, pop, 80's, 90's, grunge, electronic, thrash. To be honest, he tends to like whatever his older sister and I expose him to. I can't think of too much he actively dislikes.
Video Response: https://youtu.be/XnOgnZYu6nI
Scufflecorn56 karma
What is your favorite comic book movie? Also now that you have steam, what's your favorite game to play on there?
caskethopper81 karma
He said his favorite comic book movie was Guardians of the Galaxy, and his favorite steam game was Left 4 Dead 2.
Video Response: https://youtu.be/36ZHWyp4D5E
V4ld1z18 karma
wow 10 years old and he's playing l4d.. I'm 18 and am still sometimes freaked out by this game even though it isn't as scary as other games are
caskethopper44 karma
I tend to let him take the lead on what kind of content he is comfortable with, with some exceptions. He does scream when he shoots the witch, but then he turns around and shoots every witch he finds, so obviously it's not bothering him that much.
Slemven50 karma
Hey Toomee! This is so cool of you to do! First of all: playstation or xbox? Secondly if you could visit any place - where would it be? Thirdly who's your role model? (Besides your awesome dad!)
Greetings from Denmark :)
caskethopper61 karma
Greetings back atcha from North Carolina!
He said he prefers Playstation, because it has better graphics. I suspect it's also because that's what I bought.
He said he would like to visit Scotland, because that's where his ancestors are from.
Finally, he said that his role model would be Finn Balor. He's an Irish professional wrestler who wrestled in Japan for a while before coming to the WWE. Toomee said that he thinks Finn is a good role model because he's cool and a nice person.
Video Response: https://youtu.be/SMI_4sxxA7k
raendrop36 karma
I have a friend who has DMD. He's 30 years old, and his passions are computer programming and music.
What kinds of things do you like to learn about and do for fun?
caskethopper59 karma
I think he might be tapped. He kind of blanked on this one for a bit, but he likes to watch videos about Science-y stuff and random trivia.
On a side note, it is always so encouraging hearing about adults with DMD living full lives. I remember when he first got diagnosed, everything I read was SO bleak. So, thank you.
Video Response: https://youtu.be/BFNzGNVSG0c
caskethopper64 karma
He said his favorite cartoon is Batman The Animate Series, because he likes Batman. I pressed him for a better explanation, he just said it's a good show.
Video Response: https://youtu.be/ljL0-ISgyhE
DrBobOh12 karma
You're a great dad for showing him that series. You should have him check out the D.C. Animated movies. This is a very heart warming AMA btw.
caskethopper10 karma
Thanks! I really wasn't sure if it would be interesting, but I knew he would get a kick out of the idea that people on the Internet wanted to hear what he had to say.
He's watched most of the DC Animated stuff. I screen a lot of the newer movies just to make sure, but there aren't many he hasn't seen.
rippev33 karma
Thanks for doing this, I admire your courage Toomee! What kinds of activities does he do for physical therapy? And as a therapist, what can I do to to make your time more enjoyable?
caskethopper32 karma
Thanks! He said he does some activities with a beach ball with his physical therapist. He also stretches his hands and does some other stretches for his legs. I know he usually works his hamstrings, calves, and t-bands pretty good. We also stretch his legs before bed at night most of the time.
I'll post the video response for the second question. The short version is that he thinks it's kind of boring, so find a way to make it entertaining.
Video Response: https://youtu.be/1H9pmHG95DQ
collegelife70429 karma
Hey Toomee,
What grade are you in? What's your favorite subject in school? If you could make up a new subject that would be part of the standard school day for all kids in your grade, what would it be?
caskethopper83 karma
He is in 4th grade. He says his favorite subject is math. If he could make up a new subject, his first choice would be playing video games. I told him that wasn't an academic subject, so he changed it to the WWE. I pushed back again, and he said that he would have the kids in school study "A History of Batman."
Video Response: https://youtu.be/gaKUCJwW7Hs
PM_STEAMCODES26 karma
Hey toomee! What's your favorite esport and which player do you like?
caskethopper45 karma
He doesn't watch esports. He also got kind of salty during his response because he wasn't happy about the Royal Rumble winner.
Video Response: https://youtu.be/5uPANfAeMeA
Mairbh3 karma
Who was Toomee rooting for at the Royal Rumble? I had a couple wrestlers I was disappointed didnt win. Sheamus is my favorite, but he won in 2012. Time to give someone new a turn :p ..
I really think Chris Jericho should have been the winner though, he deserves it after all these years.
caskethopper9 karma
He was really rooting for a surprise Balor return, so he was already a little mad when Reigns came out. When it got down to the last few, he was rooting for Bray Wyatt or Jericho.
He wasn't happy about Orton, but he said at least it wasn't Roman Reigns. He really doesn't like that guy.
Megabyte725 karma
Hey Toomee! Who are your best friends? And what is one thing you would really like to do with your friends in the future?
caskethopper41 karma
He said that his best friends are Brian and Malachi. He plays soccer with them at school, and he'd like to hang out and play video games with them but Malachi doesn't like the same kind of games.
I'll add that the friend situation is difficult for him, and I expect it will only get harder in the next few years. I worried a lot about how he would deal with bullies when he first got diagnosed. When I was a kid, bullies were the kids who beat the crap out of you. These days it seems like the bullies are just kind of mean and make fun of you. Also, we recently moved from a suburban area outside of Charlotte to an area closer to downtown, and our younger kids are actually in a Title I school now. That worried us, but the kids in their new school have actually been nicer, more willing to help.
Video Response: https://youtu.be/ljL0-ISgyhE
caskethopper56 karma
He said he wants to be a WWE wrestler when he grows up. His ring name would be Omega.
Video Response: https://youtu.be/W1vpwtxUzuE
SaltdPork23 karma
Hey Toomee, what's the spiciest food you've eaten, and would you challenge your dad to eat it aswell?
caskethopper45 karma
He said the hottest thing he can remember eating is Takis. Dude, I'm just going to put it out there: I don't mind when it burns going in, but I'm not a fan of how it burns going out, so I'm not doing any hot pepper challenges.
Video Response: https://youtu.be/2txyIAkH7Zg
caskethopper36 karma
He said WWE 2k17 is his favorite. He likes Titanfall 2 also, but WWE is his favorite.
spike0219 karma
Hey! Does he play Titanfall 2 on PS4? If so, feel free to add me and I'll play with him if we're ever on at the same time. I have a fun group of friends who play together almost nightly and have a great time.
caskethopper10 karma
He plays Titanfall 2 on the PC, mostly so he can play with his older sister and me. We are pretty awful at Titanfall, and sometimes we have to hear crap from the other players, but it's fun so idgaf.
freckleface11712 karma
Hey Toomee,
I just want to say how brave you are! I am so impressed with you and your wonderful Dad :-) I hope you guys have a great time on your trip!
Side note: Dad...I'm SO impressed with you for all you do and how candid you are with your answers. I can tell how much it means to Toomee (and I'm sure the rest of your family too). I have a neuromuscular autoimmune (MG) and it is no where near as severe as Toomee's condition...but I have NO idea what I would do without my people to help me through it. You're a hero in so many ways.
PPS. Also directed toward Dad...I'm not sure I'd watch it given your family's situation (could be super hard/super sensitive), but on the off chance you've seen 'The Fundamentals of Caring'...how well did they portray Duchenne's?
Thanks again so much for being so open about your family's story. Sending much love!
caskethopper7 karma
We watched The Fundamentals of Caring a while back. I've recommended it to a few people I know. It's a great movie, I just had to make sure he knew not to repeat some of the stuff he heard.
I think for the first year or so after his diagnosis it was kind of hard watching anything that dealt with loss or tragedy, but you can't sweep those feelings under a rug and pretend like they don't exist forever. That's how you end up like the mom in The Babadook. You have to feed that kind of pain once in a while, or else it won't stay in the basement.
Back to the subject of DMD in popular media, Stephen King wrote a book called Joyland a few years ago. It's not standard King stuff, more of a murder mystery, but the plot revolves around a kid with DMD. I liked it, not sure if Toomee's quite ready for it though.
caskethopper6 karma
He's played minecraft before. He said he didn't play roblox because I'm usually pretty strict about games where the kids are chatting with strangers on the internet. Which is kind of ironic, I guess.
Video Response: Mic Broke :(
entishman10 karma
Hey Toomie! I know you guys are done for this AMA but I just wanted to thank you both for doing this awesome AMA! Good on you both! Here is my question, if you see it tomorrow sometime. Star Trek or Star Wars? (I have a 9-year old and he would probably say "Minecraft") as a dad of said lad, let me say I really appreciate the bond you guys have. Nice work, dudes! Big love from Canada!
caskethopper4 karma
Star Wars. He said his favorite episodes were Rogue One and Jedi.
Video Response: https://youtu.be/PhgncuIxFv4
Amlethus10 karma
Are you aware of this treatment that was recently approved for limited use?
https://www.statnews.com/pharmalot/2016/09/19/sarepta-wins-dmd-drug-approval/
caskethopper14 karma
Yes. That was Sarepta's exon 51 skipping compound. Something I had to learn when he was diagnosed is that there are a lot of variations in the disease. Exon skipping is the closest thing to a real treatment option that's out there, but they will have to develop a different exon skipping treatment for kids with different mutations, and some kids with DMD can't be treated with exon skipping at all.
There's an article here that goes into some detail on reading frames: http://www.exonskipping.nl/reading-frame/
Without trying to talk above my level of expertise too much, I can say that his mutation would be treatable with an Exon 55 skipping compound. Sarepta has something in pre-clinical, but there's no word on when or if that would go to trial. Prosensa was working on something with Glaxo-Smith Kline a few years ago, but something happened and GSK cut ties, so I don't know what's going to happen with their treatment.
The real trick is keeping him ambulatory until the treatments go to trial. The pharmaceutical industry has to be able to demonstrate improvement in some standard tests, otherwise the FDA will crap on the treatment and the stock-holders will flush them down the drown. So, kids who are further along the decline get pushed to the side so that they don't trash the results.
I try to stay on top of treatments as much as I can, without obsessing. I've got some scripts that poll the clinicaltrials.gov site and let me know when stuff changes, and I poke at it every so often to see what's turned up.
caskethopper4 karma
He said no. I haven't either. After I recorded the response, he started asking if you meant the Chuckie Brothers, like the doll who's your friend to the end. I told him probably not.
Video response:https://youtu.be/ehVtcjPB5PE
MusicMedicine6 karma
Hello Toomee, what do you think about music? How do you make/enjoy it?
I would love to thank you for doing this AMA and bringing understanding to the reddit community and world!
I would also love to gift you my company's motion control music platform "Point Motion" DM me if you would like :D
caskethopper4 karma
He mostly likes listening to music, but he plays a lot of the rhythm games (Rock band, dj hero, etc). We skimmed the video on your front page. He said that he'd like to check out the Point Motion. He agreed to make a song and send it back to you if you send it. He's also being a little short in his responses right now. I think he's getting a little intimidated by the attention, though he's insisting in my ear that he's not.
Oh and he and his sister make a lot of silly lip sync videos to songs, but I don't think they post them anywhere.
I'll DM you later today.
Video Response:https://youtu.be/taJCjpRNHDc
MinusMedic5 karma
Also have DMD in my family, 3 cousins and an uncle I never knew. All have passed now.
As you can guess, family gatherings could be a mad house. One year at Thanksgiving, everyone was at our grandparents. The three with DMD were in wheelchairs by this time and we're huddled around a TV playing video games. The turkey was ready so grandma asked another cousin what kind of turkey they wanted. She ran and asked them and they all wanted legs. She yells back into the kitchen "the wheelchair gang wants legs!" Grandma responded "I'll bet they do!"
My cousins always loved video games, especially games like gta where you could do whatever you wanted to do. My question, are you excited about the future of VR gaming as a way to be more engage within the game?
Thanks for doing this man!
caskethopper3 karma
Hey, great story! We actually got a little sidetracked talking about jokes like the one your grandma made. He's not really getting super hyper right now, but Toomee usually has a pretty wild sense of humor, so I was a little surprised that he said that wasn't cool. Maybe it's just the context. We definitely joke around with each other a lot in this house, but sometimes he takes things pretty literal.
To answer your question, though, yes he is excited about VR. I have a cardboard headset that I've played around with a little bit, but I haven't let him use it. I've been telling him that early adoption is for suckers, give it another year or two and it will be exponentially more awesome and half the price.
I also asked him Playstation VR or HTC Vive. He said Playstation, but I believe he is mistaken. Either way, I've been kicking around the idea of building a simulation pit in the garage. Just trying to figure out how likely it is to end up becoming another home project that I've started and not finished.
Video Response: https://youtu.be/0gm2eaH-RMI
Stereotypy5 karma
are you aware that your nickname is also the name of the Silver Surfer's board? as in, "To me, my board!" he'd say. and then later on they made it so he named his board "toomee".
caskethopper3 karma
No. He didn't know. Neither did I. I never read a lot of the silver surfer comics. I think I got a handful back in the late 80's/early 90's, around the Infinity Gauntlet storyline, iirc. Thanos had married Death?
Video Response:https://youtu.be/TRpm3aP7W04
Dimahoo2 karma
Hi Toomee! Who's your favorite Wrestler and who should have win the Royal Rumble?
caskethopper2 karma
His favorite(s) are Finn Balor, Seth Rollins, and in NXT Shinsuke Nakamura. His least favorite right now is Bobby Roode, and he thinks Roman Reigns sucks. He later qualified that Reigns was a good wrestler but McMahon needed to change his character. I asked if he was concerned that he might bump into Vince at Wrestlemania and have to fight him over that, he said bring it.
Video Response:https://youtu.be/7GPb2DnW_co
Moonmanthathoe2 karma
What is day to day life like? (to toomee's dad) (to toomee) Whats your favorite cartoon kiddo?
caskethopper4 karma
I'll get him to answer the second part once I'm home, but as for the first part, you adapt and develop a new baseline for what's normal. We have to pick him up and carry him up stairs. He needs help with a lot of little things, but most of the time he will try to do things on his own. He's gotten hurt a few times, and maybe the activity he got hurt doing was different, but I guess that's not much different from most little boys.
School is a constant challenge. Sometimes it feels like they're set up to handle kids like an assembly line, and they get twisted when something doesn't fit their standard service offering. He's had some great teachers, but we've had to spend a lot of time in conferences, pushing back on things we don't agree with.
He said that he likes Ren and Stimpy, Batman TAS, Tom & Jerry, Scooby Doo. We used to watch Adventure Time pretty religiously, and he just piped in and said, "Oh I forgot Clarence."
Vid Response 1: https://youtu.be/T4MUexWVKLQ
Vid Response 2: https://youtu.be/v-85uSTnunQ
44trent477 karma
Holy crap. I have DMD as well, I was diagnosed when I was 3. I'm currently 14 right now. Anyway, on to the question!
Toomee, what is your favorite dessert?
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