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.
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 (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 (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 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!