Act2 mutation 5mm aortic root

Dilation, 42yo, former competitive athlete. Im supposed to have a David procedure at some point. God only knows how my work will survive without me.

Welcome to the forum.

I had never heard of the ACTA2 mutation before.

Interesting:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680995/​

Epote said:

God only knows how my work will survive without me.

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I'm not sure what kind of work you do, but I was able to make a few business calls and send business emails the day after surgery from ICU. I'm sure that your work will survive one way or another.

Best of luck with your David Procedure.

It is amazing how science has discovered specific genes relating to conditions. I have been doing extensive research on the genes involved in bicuspid valves, aortic aneurysms and pectus excavatum. Someday they will be able to use something like CRSPR to go in and fix these genes when children are young and avoid some of the problems that come with them. I have been unable to find any of these genetics in my profile, but science hasn't found them all I am sure.

Here's to a good outcome for you in any future surgery! My work is only part time as I am the person in our family who takes care of the household and everything that comes along with it, so I worry about how that is going to work. My wife is going to take a couple weeks off work to take care of me and the house, but after that I worry stuff won't get done. I think she can handle it, but she works 12 hour shifts so when she goes back to work stuff will have to wait until her days off. Hopefully I can handle it, and don't try to do too much too early. Hopefully there is someone at your work who can hold things together while you are gone.

SatoriFround said:

Someday they will be able to use something like CRSPR to go in and fix these genes when children are young and avoid some of the problems that come with them.

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this was actually my motivation (for my own children) when I started my Biochem Degree in 1983, I later found it was part of the motivation of either Dr Watson or Dr Crick in their interest in molecular genetics. Once upon a time I was concerned that I didn't want my own children to go through this.

I've stated here plenty of times that I've reversed my position and instead view it as having been crucial in forming who I was. Certainly not everyone flourishes in adversity; but I see equally in the GenZ et al kiddiez today that a life of comfort and screens isn't making them smarter, nor more resilient.

We are what we make of ourselves and how we play the hand we are dealt.

Naturally opinions and views differ.

pellicle said:

this was actually my motivation (for my own children) when I started my Biochem Degree in 1983, I later found it was part of the motivation of either Dr Watson or Dr Crick in their interest in molecular genetics. Once upon a time I was concerned that I didn't want my own children to go through this.

I've stated here plenty of times that I've reversed my position and instead view it as having been crucial in forming who I was. Certainly not everyone flourishes in adversity; but I see equally in the GenZ et al kiddiez today that a life of comfort and screens isn't making them smarter, nor more resilient.

We are what we make of ourselves and how we play the hand we are dealt.

Naturally opinions and views differ.

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There was a post at another forum that asked if you could either change the mistakes of your life or get 100 million dollars which would you choose. So many people wanted to change the past. It is sad. Our past is what makes us who we are. If we never made mistakes we would not be able to learn and change and grow. I haven't made any mistakes that are so horrible I feel the need to change them. Maybe if I had killed someone as a result of an accident I would want to change it, but that isn't because I made an accident, but because of the person who was harmed as a result.

I am still all for repairing genetic conditions that cause harm, regardless of the learning experiences those defects or diseases create. For an example, I have a friend who carries the Epidermolysis Bullosa gene. She didn't know it and ended up having a child with this condition. That poor child's life was full of pain and she passed away of complications of EB at 18. Everyone who knew this little girl was happy to have had her in their life, we all learned a great deal from her beautiful outlook on life, but any one of us would have jumped at a chance to stop the pain, to give her a long and fulfilling life filled with joy.

It is definitely a difficult ethical subject. I don't want to fix people because I think they are less than or anything like that, just to stop suffering, even if that suffering enables us to learn and grow. My wife's oldest son, who is autistic, had an accident and almost died when he was 11. He was in a medically induced coma for almost an entire month. She tells the story of how when he was finally out of ICU and doing all the therapies the therapist asked her if certain things were normal for him. He is a bit of an odd duck. She said she told the therapist he was always this way and that she was glad she got him back the same. That if he were to have come back after the accident as a completely normal child she would be sad because she loved his idiosyncrisies. This is how we embrace those we love, after they are here and in our lives we can't imagine them any other way. In a way this is selfish though. He is 28 now and lives with us. He doesn't have friends, except his online D&D group. He deserves so much more from life. He finally decided he was ready to try to work through the anxiety and is seeing a therapist. Hopefully they can help him to branch out and embrace life because we have been completely unsuccessful. He deserves to thrive, not just survive.

Anyway, I got a bit sidetracked, as I tend to do. LOL But basically I agree with this, "We are what we make of ourselves and how we play the hand we are dealt". And at the same time, sometimes the hand we are dealt can be incredibly limiting or present hurdles in life that seem insurmountable. If we are able to get past these hurdles life is sweet and we feel pride, but some people have a much harder time than others.

SatoriFround said:

Our past is what makes us who we are. If we never made mistakes we would not be able to learn and change and grow.

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The saying “what doesn’t kill you makes you stronger” is hmm how to put it mildly…not very accurate. What doesn’t kill might as well leave you crippled. And I’m not even talking about loosing limbs or physical function. PTSD, cPTSD, depression, panic disorder. All these are very real things.

And then you have not your mistakes but the mistakes of your parents that made you unable to choose correctly later on. There’s a poem by Philip Larkin:

They **** you up your mom and das
They may not mean to but they do
They fill you with the faults they had
And add some extra just for you.

pellicle said:

I've stated here plenty of times that I've reversed my position and instead view it as having been crucial in forming who I was. Certainly not everyone flourishes in adversity; but I see equally in the GenZ et al kiddiez today that a life of comfort and screens isn't making them smarter, nor more resilient.

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Gen z lives a life of comfort?!
Gen z grew up in or lived through:

- The biggest economic recession since 1929
- The biggest pandemic since 1918
- The resurgence of fascism
- Trench warfare in europe
- The Syrian civil war and the relevant immigration waves
- The new wave of antisemitism
- And they are left dealing with the destruction of our biosphere but non other that the actual pampered kids of the 20th century the boomers.

And they are currently the most educated bunch of people to have walked the earth.

People always think that the next generation is immoral, lazy, stupid and hedonistic. Tale as old as time. It was wrong 2000 years ago and it’s wrong now.

Epote said:

The saying “what doesn’t kill you makes you stronger” is hmm how to put it mildly…not very accurate. What doesn’t kill might as well leave you crippled. And I’m not even talking about loosing limbs or physical function. PTSD, cPTSD, depression, panic disorder. All these are very real things.

And then you have not your mistakes but the mistakes of your parents that made you unable to choose correctly later on. There’s a poem by Philip Larkin:

They **** you up your mom and das
They may not mean to but they do
They fill you with the faults they had
And add some extra just for you.

Click to expand...

Yeah, I hate that saying. I know they mean mentally stronger, but even that isn't accurate. Many people are crippled mentally though. I have walked through some tribulations and yes, many have made me stronger, but some have also scarred me and those scars manifest in ways I wish they wouldn't sometimes.

Hi

Well fistly thanks for totally exaggerating what I said and putting words in my mouth. I'm sorry that you think that by generalising that I'm talking directly to you and about you.

Epote said:

Gen z lives a life of comfort?!

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they do ... and we all live lives better than the finest kings of the 19th century ... you'd have to be a Gen Z to not know that.

- The biggest economic recession since 1929
- The biggest pandemic since 1918
- The resurgence of fascism
- Trench warfare in europe
- The Syrian civil war and the relevant immigration waves
- The new wave of antisemitism

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so tell me about how you were involved with anything more than lockdows in the pandemic? You had to stay at home?

Were you in Syria? Were you in the land war in Ukraine ... but bravo that you know of those things.

Epote said:

And they are left dealing with the destruction of our biosphere but non other that the actual pampered kids of the 20th century the boomers.

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right .. like I said ...

When our world looks like Mars or Venus you can say destruction ... until then its better described as degradation.

most well educated? Don't make me laugh. They are as a group so filled with their own self importance that they think that. Having been involved with University for quite some years (as a student over two degrees as a Masters student and as staff member) I can say they most certainly are not "the most well educated" but may have on average more degree holders per capita ... but that does not mean that all degrees are equal NOR does it mean the only aspect of education is higher education.




Add lovers of hyperbole to the list you made. Personally I'm Gen X, I've worked with many Millennials and Z's there are many good people in there, but really they are not the most resilient I've ever met (indeed the opposite). Like I said ... some really good people, but most .... No

- The biggest economic recession since 1929

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lol. but not anywhere near the actual impact of the Great Depression. As it happens (shock) I've lived through that same stuff too ... so what?

Kill the safe rooms, kill the anxiety complexes and just walk on your own feet. You'll be fine.