I am a 15 year old male living with a rare chronic Disease. Mitochondrial disease.

I heard that mitochondria is the powerhouse of the cell; is this true?

This is completely true. Which makes this disease that much more different. As it is able to affect every facet of the human body. You see the job of the mitochondria are to provide the human body energy. They do this by creating ATP. Since all parts of the body need energy, patients with Mitochondrial Disease can have parts of their body shutdown. I have friends with Mitochondrial Disease whose digestive system has shut down. Also most patient's body are not properly able to regulate body temperatures. For example I can overheat in a 50 degree Fahrenheit room if I'm under a light.

Just wondering, does your mom or her side of the family have any mitochondrial related issues?

Not that I or any of my family knows of. There are many theories on inheritance, I do not actually know which one is true, I'll list some. Mitochondrial disease can be passed on only if BOTH the mother and father are “carriers”. This means that they carry the mutated gene, but not the disease – so they don’t have any symptoms. This is called autosomal recessive inheritance. I believe this is the most likely way that I got mitochondrial disease. But if it is strictly maternal I wouldn't be disappointed, knowing that I couldn't pass it onto future generations. Also it can be a sporadic mutation in a gene without past family history.

Have you had any genetic testing to figure out the specific mutation(s) affecting your mitochondria? Don't know of any in particular. Just wondering. Mitochondrial DNA comes only from the mother but lots of nuclear DNA is also responsible for proper functioning of mitochondria.

There have been some testing going on recently, and I have been mulling it over. The main point of the testing is to show you the lifespan and effects the disease has on people with similar genetic codes as yours. I go back and forth very often.

Benefit is that you can address issues early on. Negative is you learn average lifespan for someone with your specific condition.

Exactly, I still change my mind on it everyday.

Have you ever read A Wrinkle In Time, and its sequel, A Wind In The Door, by Madeline L'Engle? It's a book where one of the characters has this disease, though it's incredibly science fiction-y. If you have read it, what did you think?

I have not read it, and haven't heard about it. I have been looking for some new books to read so I might pick it up. Thanks for the suggestion. How would you rate the book, and how does it approach the topic of Mitochondrial Disease

Well honestly, I would say that the disease in the book is fantastical at best, it's not a particularly good medical tome. It's more of a metaphorical journey of sorts I guess. I guess it's the only time I'd ever heard of mitochondrial disease being real, so it's what came to mind when I saw your post.

That said, L'Engle is one of my favorite writers and I really liked a number of her books when I was younger, they're really good science fiction/fantasy books.

Sounds interesting, I would've hoped it approached at least the disease in a more medical way. But it is nice to see it is getting mainstream attention so that people know its a thing and it can gain publicity

You mentioned in one of your replies that you are active bowling and playing basketball. How does the activeness of these sports (well, I guess more-so basketball) affect you?

+1, I've been waiting for this question. So this is one of the reasons I chose Virtual school. I still can feel the affects of my Sunday 1 hour basketball game on Wednesday. And my Thursday Basketball practice on Sunday. I can get fatigued very easily but I chose air conditioned sports which helped with the heat intolerance. But it affects me much differently, I cannot go out with friends after a game because I have to go home and just rest and allow my body to deal with what just happened. When I was in a brick and mortar school, I would use a wheelchair to get around to save energy, and I couldn't do anything on the weekends in fear of missing the whole week of school. I probably missed 2-3 days of school a week and was late every day.

I chose air conditioned sports

Have you considered playing hockey? That's one sport you definitely don't need to worry about heat.

I have thought about hockey, but as other people have said I think I would overheat in the equipment. Also I'm a smaller kid so I'm not sure how badly I would get tossed around.

Swimming? ITs fun, and you will stay cool.

I did swim before, but it takes a lot of energy. It uses every part of your body in certain strokes.

Leave all your question and I'll answer them in the morning thank you guys for allowing me to spread the word on this personal cause!

My little sister has a mitochondrial disorder as well, and is still doing g-tube feedings (she's 30)... This is in addition to a bunch of other physical and developmental challenges.

For example, she had some stomach related issues that currently prevent her from oral ingestion, so she doesn't get any of her caloric intake unless it's from the g-tube. Right now, her day-to-day is a consistent struggle, and requires full time care to help manage.

She still maintains an incredible outlook on things, loves books, and has a pretty rich personal and social life. I am in awe of her... And you for doing so well and staying in front of things. You're awesome. :D

I know it may not seem like it from your end on some of the worse days, but it is totally great that you're able to maintain some semblance of normal diet and can manage some of the complications that come up.

Also you should know; with care and vigilance, your life expectancy is a LOT better than you might think, and doctors and specialists are working hard to continue to improve quality of life for people with this disorder.

My questions are this:

• How soon did your parents and doctors figure out that you had it?
• Were there any complications at birth that alluded to your condition?
• How soon did treatment (and the tube feedings) begin?

No other questions; just wanted to say good on ya for doing this AMA. :-)

We know from birth that I had something wrong. At around two we had the exact diagnosis after a muscle biopsy. I can't remember what age I had the feeding tube put in, but I had it taken out at 10 years old. I used it everyday and night for medications and formula. When I was born, my parents said I had blue like skin. So thankfully they investigated and on a completely unrelated note. I took a lactic acid test and It was abnormal. So after that we some some specialists and other doctors and we got the diagnosis

Have you ever had quacks (e.g. energy healers) try to sell you magic cures? If so, what happened?

Not really, I've had some really religious people tell me to pray the disease away. Which pissed me off so much. This reminds me of when Russell Wilson said that miracle water prevented him from getting concussions. It honestly pisses me off when people don't vaccinate children or don't seek medical attention. Don't put other children at risk because of your decisions.

How do you feel about the current technology to eliminate mitochondrial disease using a surrogate egg, resulting in 3 total parents contributing DNA?

Why not, unless their are some side affects to the kid (psychologically or physically) from the procedure, I see no problem. Although we are always taught genetic mutations increase the variety in nature. But hopefully we can get to a point where we have researched hard enough to create a cure and better treatments.

Oh I totally agree. I am in Biomedical Sciences.

I think its amazing we can eliminate known genetic disorders (Despite amazing people like you perservering!)

Yea it's a weird topic for me. On one hand it's like nip the problem at the bud, then its like oh sugar, I am the bud. xD

What do you think of the Parasite Eve series?

To be honest I never heard of this before but I just briefly looked it up. And it looks weird mitochondria taking over the host body? Can you explain it to me as you have more experience with the series? Also it kinda goes against the symbiotic theory stating that the parasite that became mitochondria worked to help the host bacteria get an advantage on the other bacteria. So this would be the relationship is destroyed by one overtaking the other.

You seem like you are pretty chill about the whole thing in your post and your comments, so I figured it would be safe to ask your opinion. It's a film/game series in Japan which revolves around the idea that the mitochondria in our cells eventually decide to rebel against us. Like, they've been biding their time, waiting to turn on each and every human and rule the world.

I would love to be a fly on a wall in these plot pitch room. I am more left side thinker, I find comfort in statistics and analytics. I'm in awe of some people's creativeness.

Anyway, thank you for making me aware of umdf.org!

Anytime I can spread awareness it makes my day!

Hey OP, i suffer from mitochondrial cardiomyopathy, so i know somewhat how you feel.

Problems didn't set in for me until i was around 16. When i suddenly couldn't even walk to the bathroom any more without becoming extremely out of breath.

I managed to have extensive testing done on my family (even had my blood researched by Oxford University) due to healthcare being free where i live, and it turns out that my defective gene is carried by the women on my mother's side, but can only effect men.

Meaning my mother and sister are both carriers who can pass it to their children but neither can actually be effected by the condition themselves. And i, being a man am effected by it, but i can't pass it on.

Luckily they just legalised mitochondrial donation here in England, i believe it's the first place to do so. So now when my sister has a child she will be able to use this to eliminate any risks of it being born with the faulty gene. Which is extremely good news.

If you ever wanna talk about it or anything feel free to contact me.

I guess i have to add a question too since this is an AMA, so here goes:

Are there people who think you are just being lazy, or don't understand that you cant do certain things? seems to me id need have a literal wheelchair for people to understand.

Also have you ever suffered depression or anxiety?

Thank you for sharing! It's quite amazing what science is accomplishing now. When I was younger and had less patience, I hated when people thought I was lazy. It's because its a inner disease, it doesn't show any observable traits normally so people think your okay or just faking it. I once people from school question me if I was using it as an excuse to miss school. And when I was looking to see what middle school I should go to, one of the schools principles told me not to worry. Her son is a good kid and will be my friend. (Pretty much saying I'm not going to have any friends and her son will pity me)

Hey there!

Appreciate taking the time and effort in doing this ama. Always wanted to ask this question but never had the opportunity or the tact to do it properly. It's kinda personal so would completely understand if you choose not to answer it. You mentioned the disease is terminal. What kind of life expectancy do you have? And more importantly, if you could have your deepest darkest desire (no matter how fucked up or kinky or whatever) satiated before you passed, what would it be?

I do not know my lifespan, but on an optimistic note every year I've gotten more stable and my deepest desire, would be go sky diving. Or something really thrilling and get the Adrenaline pumping.

Do you have issues with your senses? (Sight, hearing, etc.)

Yes, I have bat like eye sight. I have had glasses since 3rd grade and every year we change the prescription. I do not know if this is related to Mitochondrial Disease but It might be because of the muscles. We have some hearing issues in the whole family, so every year I get mine checked. I've never had any problems.

Along the same lines, do you have any other chronic issues like diabetes, migraines, or cardiomyopathy?

I used to have migraines but I have not had them in a while.

You guys can also ask me questions about daily life, virtual school and other topics. This is if you don't want to go all medical.

What's your hobbies? What's your favorite quote?

Some of my hobbies are bowling competitively for my local HS team (I am able to bowl for my zoned HS because I am a public school virtual student). I also partake in a Recreation basketball league, I play Ps4 with my friends as well as just hanging out and going out with them to, and I love to read. My favorite author is John Grisham. "Insanity: doing the same thing over and over again and expecting different results." Einstien. I like this quote, because I think you should lead your own life and not wait on others to make you go out of your comfort circle. (I think my explanation made more sense in my head.)

I also forgot to mention I am a sports nut. I love Baseball, basketball and football. I'm a red sox, patriots (parents from NA don't judge) and a heat fan (currently reside in Florida). I spend upwards of 4-5 hours watching sports center as background noise and checking my phone for updates.

I had a sister who had a mitochondrial disease. Hers was quite extreme, it hit hard and fast and she lived only for 4 years after being diagnosed (she was 14 when she passed away). In fact it would have been her birthday today.

My questions are: do you have any siblings? Do they also have a mitochondrial disease? Have you considered having your genes sequenced to understand more about the mutation of the mitochondria?

Thanks for sharing, it's very interesting to me to hear someone's experiences as I had never heard of someone other than my sister.

I have a sister who is 18 and has not shown any symptoms of the disease. I have considered it and next time I go to my main doctor I'm probably going to bring it up. I'm sorry for your loss.

I am also 15 with a second belly button from a g-tube. I have also been to Hole in the Wall Gang Camp! It's such an amazing place. Do you remember any councilors? My favorites are James (with the long hair) and Gary. Also, have you done Hero's Journey at camp? I'm doing it for the first time this summer and I've heard it's amazing.

Sorry I don't think I recognize those names I go to the HITWGC in Connecticut if that helps. This is my last year as a camper and then I think I'm going to do the hero's journey.

I also go to the one in Connecticut, and that's okay. There's a lot of councilors. You should definitely do it.

HITWGC is honestly the best place on earth. I really would like to stay involved as I get older either volunteering or just doing something to help make sure they can provide all medically challenged kids that experience.

Have you ever tried telling people that you have a Midi-chlorian disease and see if anyone calls you out on it?

No its funny seeing people struggle to spell it. Eventually they just ask me to say MITO

Can you talk a little bit about what type of diet restrictions and nutrition supplements are needed for your condition? And if you know, why are those specific alterations needed?

First off, here's a full breakdown on dietary restrictions. http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635

Now here is a more personal way. So when I was younger I was underweight because I did not eat much other then the formulas that was pumped into my feeding tube. During this time as we were seeing how stable I was and mitochondrial patients often have issues with their mitochondria oxidizing fatty acids. When I was around 10 I was able to take my feeding tube out after going a whole year taking pills and eating by mouth without using the tube once. I've been stable since then and been able to eat relatively whatever I want. I still watch out for fats in food and always eat the low fat options (baked chips and fries). I go day by day, on a bad day I don't eat alot of high fat food because my body cannot process them, but on a good day I have almost no restrictions.

And about the supplements, I actually do not take any medication (don't know how to properly state it) I just take vitamins. For example I take CoQ10, Many claims are made about CoQ10. It is said to help heart failure, as well as cancer, muscular dystrophy, and periodontal disease. It is also said to boost energy and speed recovery from exercise. Some people take it to help reduce the effects certain medicines can have on the heart, muscles, and other organs.

Did you hear about the case a couple years ago where there was a young teenage girl who had a mitochondrial disease diagnosis, who later had a different doctor re-diagnose it as Münchausen syndrome? (essentially, hypochondria/medical child abuse, and she was taken from her parents and placed in foster care). I know a lot of people who were outraged at the re-diagnosis. What are your thoughts?

It is my worst nightmare. Her original case handler doctor was mine, and even through they won't say it. Tufts shut down the whole MITO department because of the bad PR. I probably will never go back to Boston Children hospital because of this. They tortured the girl and allowed her to get into a wheelchair bound state. Thank god the parents went against the gag order and brought this to the worlds attention.

Holy shit, before I went to bed we were at 50 questions. Good job guys

Do you think you are old enough to be cursing?

I'm sorry dad

Hey man how are you? Im just wondering, how badly is your daily life affected due to this disease? I hope it gets better!

Well, right now I do virtual school do counteract the physical needs of going to a actual school, so thats a big one. I really can't go outside for long periods of time in the 90+ heat so pretty much everyday not in the winter.

Is there anything that someone said about your condition that really pissed you off?

Just being called lazy and that I'm using it as an excuse.

Are you able to play video games for extended periods of time or does that become to exhausting as well? And how do tv/computer screen lights effect you opposed to a bulb on the ceiling?

Nah I can play all day put I normally have lights off during the day, and air conditioning on. On a weird note, I cannot sit down while playing video games. I jump around and pace a lot.

So you could die...at any moment?

I don't really think it's dying, more so, something shutting down. My friend with the same disease has had pretty much his whole GI track shut down.

And just a follow up question, do you think having this disease has made you more/less mature then other teens your age?

I think it has made me more mature just because of the amount of adult conversations I was apart of and overheard. Because I missed a lot of school; I was with my parents a lot so I heard them talk about business things and real world problems. I think I just have an completely different outlook then other teens. I'm not sure if thats a good thing. I don't really worry about new clothes as much as I do worry about future how I'm going to get things done.

Hello, OP. Which were the costs of getting that treatment as a kid? Do you think the average American can afford to pay for it?

As a person living in a country with a national healthcare system, I'd like to know the possible costs. Thank you in advance for your response, and I hope they find a cure :).

I think right now the costs are better. But when I was getting diagnosed the tests and surgeries must of cost a stupid crazy amount.

Any thoughts on what you want to do after high school?

You say you're stable right now, but have you had any thoughts on what you'd like to see or do if shit did start hitting the fan?

Have you ever thought what your funeral would be like? Or what would you want to wear or a will or anything like that?

I would like to go to the University of Florida, Duke, or North Carolina Chapel Hill, and get a journalism degree. I would like to become a sports journalist. And no I haven't really considered the bad stuff, kinda brings you down.

Did you play the new halo? That campaign was fucking wack, yo.

Screw halo, PS4 FTW

I am seventeen and in a similar situation with a different chronic illness, although we share many of the same symptoms. You seem to be coping much better than I am. It's incredible to me that you're still able to play sports, make friends, and live your life. I admire that you're not defined by your illness. I, on the other hand, am unable to cope with the hopelessness and depression. Do you have any advice? What keeps you going?

I'm sorry to hear that. I have really accepted the disease and I'm not going to let it define me. If anything it has made me a more caring, sympathetic person and has allowed me to mature past my age. Just remember the the disease is a part of you, you are not the disease. You are a sum of all your parts.

Have you tried taking d-ribose? There are a number of amino acids that can help. I assume you have looked into information by Dr Sarah Myhill?

I am not taking d-ribose currently. But I am on a related medication called CoQ10. After looking on Dr. Myhill website specifically under mitochondrial malfunction. It seems that everything she states I've heard from other doctors. Was there something specifically you were mentioning?

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I'm not sure if I'm reading this question correctly. I'll say I'm a powerhouse of entertainment. In social settings I'm able to break the ice and get other people involved in the fun. I laugh at literally ever joke (I have been told i can work at comedy clubs). I've been invited to parties where I only know a couple of kids but I still find away to talk to people. My main thoughts are that why have a bad time. Take it into your hands and introduce yourself. Don't be afraid to talk to people and make friends. And this is someone who has some serious social anxiety problems. But after much deliberation I am able to just say F**k it and start talking.