I am Gudjon Oskarson, I have Duchenne muscular dystrophy, a severe muscle wasting condition, and need assistance 24/7 and I’m doing my PhD in human genetics. Ask me anything!

Hey Gudjon

​

First of al, thank you for doing this AMA. I have a few questions if you don't mind?

1) What's your PhD about? Where are you doing it in?

2) What is the least obvious discomfort that you face on a regular basis?

3) How has COVID affected your daily life?

4) Which charity do you personally support? How would you like us to support that charity?

Hi theblackalchemist

1. My PhD is about rare genetic variation affecting quantitative haematological traits and I'm doing it at the University of Iceland and at deCODE genetics.

2. Not being able to itch myself where I want when I want

3. Since COVID started I've been isolated at home most of the time and not met any friends or family other than my parents. I haven't been in a store or wherever there is a crowd for most of 2020.

4. It depends where you live. I've been supporting the local Duchenne muscular dystrophy organisation and the Action Duchenne in the UK. Just look at local organisations in the country you live in. All money helps, which are largely used to support research and drug development, no matter how much it is.

Since when did a supermarket chain get a university!?

BA DUM tssshhh

I'm a home care nurse for dystrophic kids - ages 9 - 14. What do you want me to know, as someone who might be your nurse?

Hi sngle1now20012001

They are kids, they should be allowed to be kids and not worry too much about the condition and not make them feel like this is hard to get assistance. It's important to feel good and safe as a kid.

I don't know what else to say, I'm sure you're great at assisting them. Wishes.

Hi! What do you like to do for fun? Do you have any hobbies? Are you into anything pop culture? Thanks for doing this! I just got my undergrad and am considering going for a masters. I can’t believe the dedication it takes to get your PhD. Congrats for getting this far!

Hi coopermoe

In my free time I like to read books, especially novels, lay jigsaw puzzles, and watching some good movies or seasons. I love to cook and bake, especially with friends. I'm not much into pop culture, but I like watching movies.

You should follow your heart and do what you enjoy. Thanks for the kind words :)

What books, movies and tv shows do you like? Thank you for doing this AMA by the way!

I like books by Nobel laureates, I don't know if that is academic snob or not hehe. I like movies that surprise me, I'm a big fan of the Coen brothers and Yorgos Lanthimo. My favourite tv show all time is Adventure Time. I like The Office and Parks and Recreation. I'm currently watching Peaky Blinders, and I really enjoy it.

How often do u have to get a new wheelchair? Or if u just have wear and tear fixed as needed? I never really thought about how expensive and time consuming maintenance on something you need to use everyday could be.

Hi drewnobars

I've been using motorised wheelchair since the age of 12-13, since then I've had three wheelchairs and I am applying to get a new one in the next few days. Where I live there is universal insurance, so I get a new wheelchair when the old one gets old. The wheelchair goes to maintenance as needed, and it's very annoying when I have to get it fixed, but I have an old chair in case.

Hi! Were you born with this condition and how were you diagnosed? What is your life expectancy? (sorry if too dark)

Hi shineyink

Yes, I was born with Duchenne MD. I was diagnosed at the age of seven. My symptoms progressed with time, increased falling and hurting myself and various other symptoms. I got diagnosed unusually late. It's hard to talk about life expectancy, it was once said to be 16 years, now the life expectancy is around 30 years. But Duchenne MD is very different between patients, and some are even in their 50s.

This question was good, don't worry. I want people to ask whatever they want to increase the awareness of the condition. Take care.

I thought the condition sounded familiar. I just remembered that it was included as part of my Ashkenazi genetic disease panel which I did before IVF treatments.

Ah, yes. I still don't think Duchenne MD is more common in Ashkenazis, but it is one of the more common rare diseases causing severe handicap (1 in 7,000-10,000 births) and therefore it makes sense to mention it in the context you're referring to.

From someone with a terrible decease (scleroderma, specifically lungs) to someone with an even worse. How do you find the determination to do these really advance things, Ph. D. in human genetics isn’t exactly easy, and any thoughts about how to deal with things when you feel down?

Hi flekkzo

It's often hard to feel motivated when the times are hard. I have often forced myself to go on by chanting to myself "I'm not going to make my fear of death prevent me from reaching my goals".

About how to deal with things when feeling down, I've realised it's good to talk about it and even just cry and let it all out now and then. Allowing yourself to show emotions can be very freeing. For me, this has allowed me to let it all out in short amount of time so I don't have to feel bad most of the time. Still, this can often get very tough and feel like I can't go on.

I wish you all well.

I'm not the original asker of the question, but I just want to say "I'm not going to make my fear of death prevent me from reaching my goals" made me cry (in a good way). I've been struggling a lot lately, and that really opened my eyes to what I need to ne saying to myself. Thank you for that. You sound like a really cool, wonderful, person! I wish you all the best <3

Thank you for a very heartwarming message! It made me smile, so kind words.

I wish you all the best

Heya Gudjon!

Did you participate in SquadUp this year? It’s a gaming marathon raising mo et for DMD research.

Hi binjamins

I have not heard about SquadUp before, so no, I did not participate. I will look into it.

Thank you for letting me know. Take care.

Gudjon - thank for you doing this AMA, your work and for raising awareness. My mother’s side were / are carriers of Duchenne’s, with the disease afflicting two of her brothers and one of my sisters being a carrier, so this post hits home for me. I oftentimes feel like MD can be overlooked and that MDA doesn’t get the spotlight it deserves, so thank you for everything.

My question for you is how has MD treatment and therapy progressed over the last few decades? I know how things were, anecdotally from my mother, but am interested to know what technology has given.

Hi anxsy

Duchenne MD treatment has progressed tremendously. In the past parents were told nothing could be done. Now treatment involves physiotherapy, drug treatment (glucocorticoids, prophylactic heart failure therapy, anti-hypertensives and ect.), nocturnal and daily ventilation. These have together increased the life expectancy and most reach adulthood if they get the right treatment.

There are many solutions in development. There are hundreds of studies and clinical trials for drugs for Duchenne MD. I am very optimistic that we will see a very good treatment within next 2 decades and I will hopefully be able to get them too.

Take care and I wish you all the best.

How long until we see gene therapy drugs for DMD hit the wider public? I know certain companies backed out of myostatin inhibitors but do you think they are still promising?

hi hugh--jassman (hehe, made me giggle)

I do not know, I am optimistic we will see some kind of gene therapy for DMD for wider public within the next 1-2 decades, and hopefully much earlier.

The myostatin inhibitors were promising but there were some fundamental "mistakes" or rather "unknowns" regarding them. The thing was that for most DMD patients the Myostatin is already very low due to negative feedback mechanism. Last I heard some were planning to use the myostatin inhibition as an adjuvant therapy with some other treatments and hoping that would work.

Hi. Congratulations on pursuing your PhD. That is not an easy task in any way. I am a speech pathologist who’s worked with several young people with Duchenne MD. So my questions relate to that. 1) Has your ability to speak verbally been compromised? 2) If so, what mode of communication is easiest/do you use most often (AAC device, computer with text to speech, etc)?
3) do you have difficulty swallowing (dysphagia)?

Thanks!

Hi MrMulligan319

Thank you very much :)

1. No, my ability to speak verbally has not been compromised.

2. I have not tried these mode of communications :)

3. It has increased in the past few years, but it does not affect me much. It's hard to swallow too large meat bites. I still often need to cough after eating because of aspiration, especially if it's very hard food.

Thanks for these question, take care

Do you feel pressure from having a physically restrictive condition that you need to perform well in some field (like in academia) rather than living a life where you don't push yourself that hard intellectually?

Hi Melele

I have not felt a pressure that you describe. I have always enjoyed studying and I have always been very curious. But I can imagine it might be some kind of pressure on me to do so. I have actually never thought of it. I like this question a lot, thank you.

But I can still tell you, since I'm in physically restricted people expect me to be some kind of genius since I work in genetics. People tend to think of Stephen Hawking. It's more funny, than a pressure.

Have a nice day

Hey there. :)

How long does it take you to get ready in the morning?

Do you like the people who assist you with your medical needs?

hi MysteriousPack1

From going from bed and be fully dressed takes me around 15 minutes. If I take shower, it takes around 30 minutes. Then I take some 15-20 minutes having a coffee and some small breakfast. There is some time in between. So it takes be about an hour to get ready.

I do like the people assisting me, I have to, otherwise I can't enjoy my life. I can choose a bit who assists me, so I pick people I like having around.

Best wishes.

Thank you for doing this AMA. You are a motivational inspiration, thank you for sharing your story.

A few questions:

1) what is next, after you finish your PhD? What are your next goals?

2) do you drink alcohol?

3) what is your lifelong dream, if I may ask?

Cheers!

Hi Kaerlok

1. I hope that I will keep on doing research, I haven't decided next goal after my PhD, I will let the time decide.
2. Yes, I do drink alcohol, but I've decreased it significantly for health reasons.
3. My lifelong dream is to get cured of this condition, but I do not expect that to happen. I also would like to have my own family.

Thanks for the questions, take care.

How far would you say we are from implementing our gene-editing technologies within Humans?

Hi FireCatalyst

I haven't followed the medical use of gene-editing for the past 3 years. So I do not know how it is now. But it has to be safe and not cause some unwanted effects, such as cancer and other malignant diseases. If the technology we have already is deemed safe, I think we're not that far from being able to make real use of gene-editing therapies, hopefully next 1-2 decades.

Eru margir á Íslandi með þennan sjúkdóm/einkenni (þú afsakar, veit ekki alveg skilgreininguna á þessu). Hvað heitir þetta á íslensku?

Sæll Solmundarson

Þessi sjúkdómur heitir Duchenne vöðvarýrnun á íslensku. Man ekki alveg töluna hvað við erum margir með Duchenne vöðvarýrnun á Íslandi en ég myndi segja svona milli 8-10 (leggst nær eingöngu á drengi). Við erum á öllum aldri, sá elsti er á fimmtugsaldri en sá yngsti undir 10 ára.

Takk fyrir spurninguna

What are your life goals? What’s your biggest motivator? How do you envision your optimum future?

Hi rainbowfartcake

My life goal is to feel good and do what I enjoy, it's simple as that. Still, at the moment it is to finish my PhD. I usually just focus on the next goal without thinking what will come after. My biggest motivator, hm, it's that one day I will not be able to do as much and therefore I need to reach my goals before that.

My optimum future will to feel good and to not be scared of the future.

Best wishes.

whats your opinion on antidepressant type drugs? should people be taking these?

hi Ganjiek

Thank you for the question. I'm not a specialist in treatment of depression, so I can't say much about it. But I can say drugs shouldn't be used if you can get away with not using them. However, some people are so depressed that medication are clearly needed and often in combination with talk therapy. I'm answering very general, and if you want a a better or more detailed answer you should talk to someone that knows more about these kind of treatments,

Take care.

What's your opinion on Sarepta's drugs? Would you take them if given the opportunity (assuming you have the exon 51/53 mutations that would make them effective)?

Hi YouBleed_Red

I'm not eligible for the exon skipping drugs that are in development. My deletion is within the first 15 exons and I'd need to skip 2 exons. As I've understood about Eteplirsen is that it show some benefits, but they're very small and question if it can be justified to spend so much money on a drug that doesn't show more benefits. But I suppose I'd take it if I was offered it and was eligible.

Regards

How close are we to locating the genes responsible for Duchennes and once we have them identified how likely are you to attempt to engage in pre-approved CRISPR modification therapy such as what has been done with Liz Parish?

hi mkultra50000

Duchenne MD is so called monogenic condition, meaning it is caused by mutations in a single gene. The gene linked with Duchenne MD is known as the DMD gene, encoding a protein called Dystrophin. Mutations causing this gene to lose it's function are known to cause Duchenne MD and was identified in the 80s.

I wouldn't mind taking part in a CRISPR modification therapy, if it has been proven to be safe.

Would a Phd give you access to the tools needed to this kind of gene editing, and in theory let you study you own genome to make you able to try cure you, or is that still only done by private companies ?

Hi onico

I did study my own genome in my master's thesis and I cured my disease in theory in a theoretical highly personalised gene therapy. I would not want to be a guinea pig of my own study at least without doing a lot of safety studies first. I would also want it to be applied to other patients and not hurry to cure myself.

Hi Gudjon,

What's the one book you'd like everyone to read?

Hi ChupdiChachi

I love "100 years of solitude" by Gabriel García Márquez and "Independent People" by Halldór Laxness.

Have a nice day.

Such inspirational comments and kudos to you for not letting this sideline you. Do you think your parents’ approach to raising you led you to be so motivated or was it innate to your character?

Hi Leena52

For sure my parents had a big part in that. My parents motivated me and my 3 older sisters in doing whatever we wanted and that we needed to finish anything we started. So if we wanted to go to some hobby, they asked us if we were sure, if we said we were sure, we would finish it, wouldn't be allowed to quit. I'm very lucky with parents. For example, all my 3 older sisters are medical doctors and one has a PhD, one is doing her PhD and the third wants to do her PhD. So I think it has something to do with how we were raised. That's the only thing I can pinpoint.

In general I never felt pressure to do good in school, just it somehow came from within, but I still think it was the way I was raised rather than some innate to my character.

Thanks for the question, take care.

Hey Gudjon,

Thanks so much for doing this! It's really inspiring and amazing to hear your story. My son was recently diagnosed with DMD, he's only 2 and currently asymptomatic.

Do you have any tips or advice for parents with a child with DMD? I'm having a hard time grasping how we will talk to him about it when the time comes.

Thanks again!

Hi no_no_no_yess

Getting the diagnosis is always hard I suspect, which I only realised as an adult. The main advice I can give is to try to make him feel as normal as possible, never make him feel like he's a patient and that he can't do what others can. In a way let him be child, while you worry about the disease, don't make him feel like he's responsible for the hard time ahead of you (I know nobody intends to do that, but it can still feel like that to the kid). He will learn by time what the disease is, allow him to learn. First this is the disease of the parents, later it will be his disease. Just support him.

It was always hard for me to accept this disease, it's very scary. I didn't fully accept it until I was 20 years old.

I wish you all the best, good luck in the project ahead of you. Best wishes :)

How old are you?

Hi Shanesaurus

I'm 29 years old

Good afternoon Gudjon,

I hope despite any day to day challenges you may face especially with the state of things recently you are doing well!

My question is this. I currently work for an American insurance company that approves higher end medication in treatments for issues such as Spinal Muscular Atrophy, Multiple Sclerosis, Cystic Fibrosis, and quite a few other disease states. While it isn't particularly required for me to have full clinical knowledge of these diseases to do my job I feel ill equipped in trying to get coverage for patients with these diseases. I'm admittedly under educated having spent little time in college and certainly have had no education in regards to medicine. What would you reccomend for someone wanting to learn more about diseases such as yours or others like it? Any resources you would specifically recommend?

Hi scarednight

I usually just "google" the conditions to know about diseases. OMIM (Online Mendelian Inheritance in Man®) at omim.org has a lot of information about genetic diseases, I use it at my work a lot.

I also point at the podcast episode I made, which I link above :). There you can at least get some idea bout Duchenne MD.

thanks for the question and take care

Hey, couple of things:

Did you mention your condition while you were applying to undergrad and gradschools?

What was your acceptance/rejection ratio?

What do you plan to do with/after your PhD?

Hi IronManatee

When I applied for my undergrad it was always clear to the school that I was handicapped. The pharmacology department was small and they where so welcoming when I applied for undergrad. I live in Iceland so there is only one university that has a pharmacology department. The same with gradschool.

So the acceptance/rejection ratio was 1/0 (oh no, I divided by 0!)

I don't have any plan for what I will do after my PhD, but I think I'll be going on doing research

Thanks for the question, take care

Hi there! Do you get to travel much? I don’t really know how that works with a motorized wheelchair- airplanes might be difficult. Are there places you particularly want to see?

Hi Red_Mischa

I have travelled abroad 1-2 times a year since I was a child. It was hard the first time travelling with a motorised wheelchair, because I and my parents wanted to control how it was going to be. But I've realised the best thing to do is to just do what the airport security tells you to do, it is the simplest thing. I have mostly travelled in Europe and long flights are hard.

I would love to go to New Orleans and Japan, mostly because I've heard there is good food in both places.

Thanks for a good question, take care.

This is awesome!

I am a behavioral therapist currently working with a child that has this diagnosis.

At what age or when do you think a child is ready to have a conversation about their own diagnosis? For sure I want a mental health therapist in combination with his family to have this talk with the consumer I work with.

Are there any networks to connect families or even children with this diagnosis for the sake of socializing. It pains me for the kid I work with to feel so misunderstood, left out, and unable to relate with peers.

Thank you so much for doing this

Hi Chubuwee

I honestly don't know when it is good. I would like the kid to be a kid as long as possible. I had very hard time, and was very scared of the disease. I couldn't talk about it until I was 20 years old. It went well for me, but I don't have an answer.

I do not know of any networks other than the parent organisations, such as Parent Project muscular dystrophy in the US and Action Duchenne in the UK.

Good luck and take care

How do you think student doctors (MDs in training) should think about genetic diseases? A lot of my colleagues (I'm a med student) act all introspective and deep when presented with patients who have genetic diseases. As someone who also faces a (much milder) genetic disease, it always rubbed me the wrong way. I personally think the best way to think about a disease like that is "it just sucks...a lot" and it really bothers me that students with no conditions try to impart deeper meaning into it.

Hi readlock

I'm in an unusual position that I understand both sides very well. I get so excited when I hear someone has a genetic disease. But yes, I know what you mean when people try to imagine how it is to live with some condition and how the patient thinks. Still, I want to say, I'm usually not much affected by people acting like this. I don't care when old men tell me to "drive slowly so you don't get a ticket", I just smile and "good one".

I wish you luck in your studies

Have you seen Darius Goes West?

Hi hosalabad

No, I have not seen it, but thanks for telling me about it. I'll definitely watch it

take care

Have you seen Rory O'Shea Was Here?

Hi Curious_Mongoose

No, I have not seen it either, I'll have a look at it

Hi Gudjon, what are some of your favourite foods?

Hi tylerdav42

I love good food. I love a good fish taco, shawarma, some smokey bbq, Indian curries, rice pudding. It's so hard to pick, there is so much good food in the world. What are your favourites?

take care

Hi, thanks for doing this AMA. My colleagues and I are actually doing a presentation on DMD for our DPT (physiotherapy) program.

Do you have any experience with Physical Therapy, Occupational Therapy, or any related therapy, as you were growing up? If so, how was your experience with it? Any likes or dislikes of what you had to go through or what you would’ve liked for them to know back then to service you better, or even anything you’d like to comment on that could help us understand more about the situation?

Thank you.

Hi chingchongmakahaya

I answered a similar question here below

"I'm in physical therapy 2 times a week, but it has decreased during COVID times. I am not currently in occupational therapy, but I met occupational therapist a few times in the past when I was a kid and teenager. She was very helpful and advised my parents and me a lot, she even is the reason I decided to get a driving license, so I've good experience from occupational therapy."

I had the same physiotherapist from age of 7 to 20, and only had good experience from that.

The occupational therapist was always very nice to me, I had the same one from when I was diagnosed until adulthood. She helped us a lot, and made many things possible in my life.

I can't pinpoint anything that is needed to know to service me better, but I see it is important to be active and try as much to take part in the society as possible. There is risk of getting isolated with Duchenne MD.

Thanks for the question and good luck with your presentation.

Hi Gudjon, thanks for doing this and raising awareness! How old are you? How is your health at the moment (eg are you on NIV/cough assist etc)? Amazing you are doing your PhD, what do you find most interesting about your field?

Hi dlb88

I am 29 years old. My health is pretty good. I always use NIV in the night and sometimes during the day, but rarely though. I use cough assist when I get a cold or if I aspirate badly. I find mostly amazing in my field is how complex the human body is and how amazing it functions as it does.

Take care

My brother had duchenne’s muscular dystrophy, and he was able to do quite a lot through the use of SoftType, which allowed him to type using a trackball. What aids do you use that allow you to achieve success at such heights?

Hi adeel06

I do not know what SoftType is, but I now what a trackball is.

Hm, mostly use a table that has a cut so that I can drive "into" it to rest my hands on the table. I've worked everything on a computer since I was 8 years old, by an initiative of my then teacher. And I can still use a keyboard, and a trackpad instead of a mouse has made everything easier.

Thanks for a good question, take care :)

What's your favorite color?

Do you like cows?

What about cats?

What was the motivation behind your central thesis for your dissertation?

Can you drive?

hi ichibangaijin_

oof, a hard question. I'd say my favourite color is blue.

Cows are so fun to watch and I appreciate them

I'm more of a dog person, but I like watching the cats that attend my garden, which I've gotten to know in my COVID isolation.

My motivation was knowledge, I want to know new things.

Yes, I can drive, I have a highly modified car, which I can control with joysticks.

Best wishes

Hi Gudjon!

Thanks for doing this. Where did the idea for your podcast come from, and has it had any effects on your daily life?

Hi crackgammon

The idea for the podcast came one day early COVID times when a friend of mine Ragnar, which is in the podcast, came for a visit in my garden and I told him I'd like to do a podcast. He and Munro had talked about making a podcast some years before called "Calling Munro" and we got excited to make the podcast.

It's definitely one of the best ideas we've ever had. We "meet" every week to record (we live in 3 countries and we meet online) and it's so fun. It has made COVID isolation a bit better. Also, I'm always alert on about what we should talk about in the next episode.

Cheers

Did you go into human genetics because of your own condition tol perhaps solve it?

Hi Odd_Transportation12

Yes, that's exactly it. I was interested in genetics because of my own condition and wanted to find a cure. Now I've become more realistic towards it.

Best wishes

Hi Gudjon

I have looked at G-quadruplex destabilizing and stabilizing compounds in some of my previous work in academia.

What potential do you think there is in looking at the Hi-C data from probing some of the distal enhancer elements in hematological studies for your research area?

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123897/

Hi ihorse

This looks very interesting. This data could be used to compare to the result in hope of understanding the biology of the association and to see if the effect is cell lineage specific.

regards

Hi! I'm a Special Education Needs Teacher/Teaching Assistant, and have worked with two kids with Duchennes in their mid teens. What would you say is the most important thing to know so I can support them in education? They've struggled with self consciousness about the increased support they receive (1-1 classroom assistance, moving tables etc to accommodate wheelchairs etc).

Hi Hey-llia

I always liked being special, so I felt like I was getting a positive special treatment, hehe. But yes, I have often hard time focussing, and I learnt it is best to tell people I lost focus, instead of trying to act like I was focussing. Or ask people to repeat.

I wish you best of luck

Hi Guðjón

Is your assistance fully paid service by the government?

Also what is your favourite take away food?

Thanks and you rock!

Hi poop-minister

Yes, the service is fully paid by the government where I get to choose and decide whom I hire as an assistant.

Oof, so any good things to eat, but at the moment I really like having a good shawarma or some gourmet burger. However, my favourite fast food at the moment is chicken and waffles.

Take care

Are you currently involved in any physical or occupational therapy? If so, what has your experience been like?

Hi NickyBradcrumbs

I'm in physical therapy 2 times a week, but it has decreased during COVID times. I am not currently in occupational therapy, but I met occupational therapist a few times in the past when I was a kid and teenager. She was very helpful and advised my parents and me a lot, she even is the reason I decided to get a driving license, so I've good experience from occupational therapy.

Thanks for the question and take care

First off I want to thank you for doing this. I have two questions for you. 1. What level of voluntary movement do you still have and what’s the prognosis as far as how quickly more loss will follow?

1. What usually ends up killing individuals with your disorder? Is it muscles wasting until things like breathing can no longer continue or is it a cold or flu that turns into something worse because you’re not able to cough and clear things from your lungs?

Hi sharkbait

1. Voluntary movement isn't really lost in DMD, but rather the muscles are deteriorated and you're only restricted by the loss of muscle mass. But I can write on a keyboard and eat unassisted. But I recently lost the ability to move in bed without assistance, so my mobility is highly restricted, but I can use a wheelchair to move around. The loss of mobility is the fastest when young but slows down when the rate of loss of muscle mass slows considerably. It is different how fast it takes, but I expect next 10 years will lead me to have little or no mobility.

2. There are a few things that can be lethal for a person with DMD. First of all, injuries, such as falling, are well known to be dangerous for patients with DMD and fall to the floor can be lethal, and some with DMD die from injuries or later complications. Secondly, pneumonia after cold or flu or after an aspiration can be very hard to deal with when the lung function only declines, many patients die from pneumonia. There is higher chance of pneumonia when it's hard to cough and clear things from the lung. Lastly, if a patient survives all of this, heart failure is part of the pathology of DMD, and that kills. Patients receive treatment for that in hope to lengthen the life. I know men in their 50s with DMD.

Thanks for your great question. I wish you all the best.

What voice programs do you use on your mobile devices to make work without having to use your hands?

Hi Elfere

I have not used voice programs on my mobile devices other than Siri to make calls to contacts.

Take care

Hæ hæ. Hvernig ertu búin að hafa það síðustu vikur? Ég er búin að vera að fara í vinnuna á kvöldin til að vera innan um sem fæsta en skrifstofan okkar er búin að vera ansi tómleg

Hæ sebrahestur.

Hef haft það gott miðað við aðstæður. Ég hef ekki farið niðureftir síðan fyrstu case-in í þessari bylgju fóru að koma. Vona að þetta hætti nú fljótlega svo maður geti farið að koma aftur aðeins á skrifstofuna.

Vona að þú hafir það gott

My 3 brothers and 2 male cousins have Emer Dreifuss dystrophy. One brother and one cousin passed in their 40s. Do you see any promising treatments in the next 10 or so years For duchene and EDMD?

Hi ktp806

I do not know much about EDMD, but yes I do see promising treatments in the next 10 years. There are so many drugs in clinical trials and a many of them show promising results. I'm sure in 10 years we have a good therapy and new clinical guidelines with new medications for these more severe muscular dystrophies. I try to stay optimistic. But I'm not sure with a cure, but I hope we will have a cure within next 2 decades.

Thanks for the question and wish you all the best.

My aunt has MD. It's not Duchenne, but Emery-Dreifuss. My wife is terrified that I might pass it on to any daughters we may have. Do you know anything about that?

Also, as someone who just finished his PhD a few years ago, hang in there! sounds like you're doing great, but I know it can be effin' brutal.

Hi himalayansaltlick

Sorry, I do not have enough knowledge about Emery-Dreifuss MD, but have heard of it. According to a short "google" it depends on what type of EDMD it is.

Thank you, I am writing my thesis at the moment, I feel like it will never end.

Take care

Who’s your favourite Icelandic musician?

Hi mmmmaplesyrup420

I like all sorts of music and don't follow much pop culture. I don't really have any favourites, but I like Sigurrós and Ólafur Arnalds, and I also like music by Valdimar.

take care

Hi 👋 Are you from Iceland? Are you currently living there? If so, I am interested in what life is like there for you and how you feel about the healthcare and education situation.

hi losermillenial

Yes, I am from Iceland and I live in Iceland. Life here for me is good, but the winter is very long, so I can't go as much outside as I wished.

For an individual in my position, severely handicapped young man, I get the best healthcare possible in Iceland. There is no doubt that I need the healthcare and people in healthcare tend make sure I get all the best. I can only answer for myself, but I've heard that everyone are not treated as good, and I understand that it is harder to have mental illnesses in reference to get the perfect treatment. But I'm sure healthcare workers try their best.

I think education in Iceland is good, I think our University of Iceland is among 500 best universities in the world. I don't have enough knowledge on the matter to answer this any more and I have no clue how it's for kids nowadays.

Thanks for your questions, have a nice day

Hi mate, thanks for sharing.

What area of human genetics are you focusing in your PhD?

As an occupational therapy student what is one thing you would say to us OT's to do better/more of?

Hi strayaares

I'm doing my PhD in population genomics, mostly doing GWAS, for haematological traits.

I don't remember much getting occupational therapy since I was in one more than a decade ago, but it did help to talk to a therapist and getting advises from one when I was a kid and teenager. I think OT are doing a great job and it is important for patients with DMD meet an occupational therapist to get the most out of life.

Just keep on going and I wish you all the best in your studies.

Hi Gudjon, thank you for the AMA. I have a foster daughter whose bio uncle and older brother suffer from Duchenne, it is suspected that she might be carrying the condition. unfortunately I don't get much info about the condition from caseworkers or doctors where I'm from.

do you have any good sources of information about Duchenne in general and especially about carriers in which the condition is possibly dormant for me to read up on and get educated?

Hi Hennibaellchen13

I'd look at webpages of the family organisations such as Parent Project Muscular Dystrophy in the USA or Action Duchenne in the UK. There are more charities that have information.

The condition is X-linked recessive, meaning almost only males (XY) are affected by the condition. Your foster daughter might possibly be a carriers and there is probably 50% chance that she is, because of the family history you told me about. Most female carriers usually don't get visible symptoms, but it does occasionally happen, but is usually not nearly as severe. But I think you should go to a genetic counselor if you have access to it.

Best of luck

Honestly, I'd love a chance to talk with you a bit more about human genetics and your thesis (I'm also doing a PhD in the field, and it's hard to find someone just to shoot the breeze with about genetics even in the department as you can't really have "lab water cooler conversation" when the labs are closed).

I'm guessing, if you're looking at rare genetic variants, that you're looking at predominantly Mendelian traits, right? Can you tell me a bit more about your thesis, and anything else genetically interesting?

Hi Brazen_Stupidity

I'm actually not working with Mendelian traits per se. I'm reaching into what we call the the missing heritability, i.e. the variants that are rare or low-frequency and have moderate impact, but are too rare or have too low impact for most GWAS or other methods will find it. Part of my thesis hasn't been published, so I can't talk too much about it. I'll send you link to my published papers.

Take care

As a kid, did you get sad when you were away from your parents, especially if you had little to do or were tired, or they did not come get you at a specific time, or left to go somewhere unexpectedly. And did you sometimes lose control of your emotions because you were away from your parents? For example not being able to stop crying for a long period of time, no matter what distractions or help was offered, playing or talking for example? If so, is it possible it was some how related to your condition or some of the challenges/surroundings the conditon created in your daily life? It is my understanding that kids with conditions that lead to them being handicapped or need some sort of assistance because of a condition, may find it harder to control their emotions in certain situations, or may feel overwhelmed after a long day, that hasn't been very fulfilling.

Hi olijarri

I do not recollect feeling how you describe. I was very lucky with parents that stood by me through everything, and I don't remember being left anywhere alone for long periods of time. But, I do remember being stressed and worry about changes, and I also tended to worry about things like meteorites hitting me and end of the world scenarios. But I could usually be calmed down easily. At a certain age I had more problems with my emotions, but it grew out of it with age. I think theses worries arose somewhat from difficulties relating to my condition, and I can't be sure of the nature vs. nurture in this case.

Even though I don't recognise exactly what you describe, I can still relate to it to an extent.

Thanks for the question and take care.

Hi there,

Tell me more about how your PhD is going, do you mainly use bioinformatic tools & databases to achieve your goals?

Was this project suggested by you or something you and your PI decided?

I’m sure everyone interested would love to read your published work, while many could look you up on researchgate/google scholar; posting a link would be great!

Hi Zoshi00

I have access to a database that has been gathered in Iceland (whole-genome sequencing and genotyping using micro-arrays, and a lot of electronic healthcare data). We use bioinformatic tools in the analyses. I primarily interpret the results from a biological point of view, and getting an overall picture. I want to make it clear that I'm answering as Gudjon Oskarsson and not representing deCODE genetics in any way.

The project was suggested by my PI, but I also had part in deciding.

Here are the two published articles where I am the first author, and I'm grateful for all the coauthors that made this possible:

article 1

article 2

Thanks for the questions. Best wishes

Hi Gudjon hope you're doing well. Here is my question (hopefully it wasn't asked before):

1- Do you believe in God? 2- What can't you do that you wish you were able to?.

Thanks for doing this.

Hi IDKUBUTIKILL

Your name is scary hehe. And thank you, hope you're doing well too.

1- No, I do not believe in God

2- I wish I could use my hands more so I'd be a bit more independent. But of course I mostly want to get cured so I could do whatever I wanted.

Take care

Who do you think will win the 2020 US presidential election? Trump or Biden?

Hi TheUltimatePoet

It's a hard question, I say "no comment". These elections worry me and I'm not even American, hehe.