My apologies for not updating in what seems like ages but I have been pretty busy and have had a case of writer's block. The thing is I'd rather post updates with high standard of content and which are interesting to read unlike some blogs I've noticed lately (and I'm not talking about TCS blogs or anything here) which churn out regular updates with cliched nonsense or with nothing that hasn't been said before that just takes up space on the internet. These updates are then posted on the writer's facebook wall in order increase their viewing figures in order to get their monthly advertising cheque from google.
I would like to point out that I have not and will not ever use this blog for financial gain no matter how many views I get, this blog is about sharing information and experiences and hopefully inspiring people and I'd like to think that will always be the case. I would also like to think all the positive responses I've had so far give some credibility to my blog in the sea of blogs that the internet has now become.
Thanks for all the support and as always please feel free to give feedback either by commenting on the blog itself or the facebook page:
https://www.facebook.com/pages/1-in-50000-blog-Treacher-Collins-Syndrome/110591609046552
or email me at jab_tcsblog@hotmail.co.uk
Monday, 5 March 2012
Saturday, 11 February 2012
Survey
A while back I posted a thread on a popular internet forum asking people whether or not they knew about TCS, here are the results:
48 people answered to whether or not they had heard of Treacher Collins Syndrome/knew what it was
28 people did not know what it was/had not heard of it
16 people had heard of it, although some of these were not exactly sure about the details.
A good majority of people did not know what what it was but I was pleased to see that a good few did, mainly from seeing something about it on TV. Whilst this is only a selection of 48 people and cannot be said to be representative of the wider public it does give the idea that more needs to be done to raise awareness of TCS and conditions like it.
48 people answered to whether or not they had heard of Treacher Collins Syndrome/knew what it was
28 people did not know what it was/had not heard of it
16 people had heard of it, although some of these were not exactly sure about the details.
A good majority of people did not know what what it was but I was pleased to see that a good few did, mainly from seeing something about it on TV. Whilst this is only a selection of 48 people and cannot be said to be representative of the wider public it does give the idea that more needs to be done to raise awareness of TCS and conditions like it.
Sunday, 5 February 2012
Back at university
Hello, just thought I might as well update, having trouble coming up with a good enough topic. So I'm now back at university after enjoying a blissful two weeks after my exams mostly watching movies and playing Batman Arkam City. But of course as soon as I started back at uni I managed to catch a cold and so it was not the most enjoyable or productive week.
I got my exam results back the other day and I am rather happy with them considering the fact that I really wasn't sure how well I had done. I'm hopeful for this semester, going to hopefully get lots of reading done since it seems like we won't have long reports to do at home instead we will be doing the writeups in the practicals themselves which is a great relief as that took up most of my time last semester.
The modules I am doing this semester are:
Invertebrate Biology
Marine ecology
Molecular ecology and evolutionary genetics.
Thanks for reading and I hope to have a longer update soon.
I got my exam results back the other day and I am rather happy with them considering the fact that I really wasn't sure how well I had done. I'm hopeful for this semester, going to hopefully get lots of reading done since it seems like we won't have long reports to do at home instead we will be doing the writeups in the practicals themselves which is a great relief as that took up most of my time last semester.
The modules I am doing this semester are:
Invertebrate Biology
Marine ecology
Molecular ecology and evolutionary genetics.
Thanks for reading and I hope to have a longer update soon.
Tuesday, 17 January 2012
It's all in the genes
You might remember that I talked about one of the programs that Jono Lancaster featured in-What if my baby is born like me and this is one of the things that got me thinking about my own future despite the fact that I am not even 20 years old yet. The fact is that the decision on whether or not to have a child is a huge one for normal parents but it is complicated ten fold if TCS is involved.
If you take it at the simplest version that was previously considered as fact in that there is only one gene corresponding to Treacher Collins Syndrome then a person has a 50/50 chance of passing on their TCS to their offspring if their partner is unaffected and so to get it you either have to have a parent or both parents with it or you get it via a gene mutation (which is how I think I got it). This is further complicated by the fact that it is not a simple case of the child will have it to the same extent as the parent(s) instead the child might be barely affected or may have an extreme case which is far worse than the parent's/parents'.
I've read recently that there may be as many 3 genes corresponding to TCS including recessive genes which means that the person has to have two recessive alleles to have TCS (what we consider genes are actually two alleles which combine to give a certain characteristic for example a gene for blue eyes is actually two alleles that may not both code for blue eyes but act in a combination that result in it, in simplest terms if a dominant allele is present then the person will have the condition/characteristic related to that rather than the characteristic relating to the recessive allele, to have the condition relating to the recessive allele, both alleles must be recessive).
A couple of which one or both have TCS can have genetic testing done in order to try and pinpoint what genes they have that are affected and their chances of passing it on. Either way they have a number of options, they can go ahead and risk passing on it on and possibly ending up with a child who will need extensive surgery/care, they can try special ivf treatment in which they attempt to select and implant only those fertilised eggs not affected by TCS, they could use a sperm bank, they can adopt/foster or they can decide they don't want kids but of course even this is complicated by certain medical conditions that are triggered due to a woman not giving birth.
What really annoys me when you read comments posted on blogs about that programme in particular or comments on youtube and people post their opinion on what they should do when they in fact have no experience of having the condition or a similar one and are not parents/guardians of someone who does. I'm pretty sure that Jono having been bullied for his looks know how hard it is to have TCS and so will not make the decision lightly.
Speaking of comments on the internet some that I have read over the past months are truly disgusting, yes some may be trolls just trying to get a response but it is clear that some people mean what they are saying. The fact is that you cannot make judgements about whether or not people should have kids when there is a risk of passing on a genetic condition unless you have personally dealt with it either through someone you know having it, having it yourself or being a relative of someone who has it. Also in terms of insulting people directly there is a great quote in Dragonball Z where Goku-the hero tells Frieza-the bad guy that the reason he (Frieza) is insulting him and calling him names is because he is too weak to challenge him any other way. It is the same for the internet it allows people to get away with hiding behind their monitors, these people are weak and have to resort to insulting other people to feel good about themselves.
Thanks for reading and sorry for the lack of updates.
If you take it at the simplest version that was previously considered as fact in that there is only one gene corresponding to Treacher Collins Syndrome then a person has a 50/50 chance of passing on their TCS to their offspring if their partner is unaffected and so to get it you either have to have a parent or both parents with it or you get it via a gene mutation (which is how I think I got it). This is further complicated by the fact that it is not a simple case of the child will have it to the same extent as the parent(s) instead the child might be barely affected or may have an extreme case which is far worse than the parent's/parents'.
I've read recently that there may be as many 3 genes corresponding to TCS including recessive genes which means that the person has to have two recessive alleles to have TCS (what we consider genes are actually two alleles which combine to give a certain characteristic for example a gene for blue eyes is actually two alleles that may not both code for blue eyes but act in a combination that result in it, in simplest terms if a dominant allele is present then the person will have the condition/characteristic related to that rather than the characteristic relating to the recessive allele, to have the condition relating to the recessive allele, both alleles must be recessive).
A couple of which one or both have TCS can have genetic testing done in order to try and pinpoint what genes they have that are affected and their chances of passing it on. Either way they have a number of options, they can go ahead and risk passing on it on and possibly ending up with a child who will need extensive surgery/care, they can try special ivf treatment in which they attempt to select and implant only those fertilised eggs not affected by TCS, they could use a sperm bank, they can adopt/foster or they can decide they don't want kids but of course even this is complicated by certain medical conditions that are triggered due to a woman not giving birth.
What really annoys me when you read comments posted on blogs about that programme in particular or comments on youtube and people post their opinion on what they should do when they in fact have no experience of having the condition or a similar one and are not parents/guardians of someone who does. I'm pretty sure that Jono having been bullied for his looks know how hard it is to have TCS and so will not make the decision lightly.
Speaking of comments on the internet some that I have read over the past months are truly disgusting, yes some may be trolls just trying to get a response but it is clear that some people mean what they are saying. The fact is that you cannot make judgements about whether or not people should have kids when there is a risk of passing on a genetic condition unless you have personally dealt with it either through someone you know having it, having it yourself or being a relative of someone who has it. Also in terms of insulting people directly there is a great quote in Dragonball Z where Goku-the hero tells Frieza-the bad guy that the reason he (Frieza) is insulting him and calling him names is because he is too weak to challenge him any other way. It is the same for the internet it allows people to get away with hiding behind their monitors, these people are weak and have to resort to insulting other people to feel good about themselves.
Thanks for reading and sorry for the lack of updates.
Friday, 6 January 2012
Exams
Sorry for the lack of updates currently studying for my first semester exams which for some reason are in January rather than before Christmas...I will not be posting any proper updates until after next Friday when my exams finish after which I will have two glorious weeks of freedom so expect a big update.
Also over 800 views, once again thanks for the support and I hope to make this blog even bigger and better this year.
Thanks for reading.
Also over 800 views, once again thanks for the support and I hope to make this blog even bigger and better this year.
Thanks for reading.
Friday, 23 December 2011
My looks do not define me-Part 3/Christmas update
Hello and welcome to Part 3 of this series, hope you are enjoying the festivities and will have a lovely Christmas and New Year. To be honest I have struggled to get into the Christmas spirit this year due to having to study for exams which is just depressing at this time of year and also the lack of snow compared to last year doesn't help.
Don't really have any updates as such compared to my own situation, but have some definite ideas for features which I hope to post after Christmas when things are a bit calmer. One thing I can say is that I may be getting my braces removed soon (thank goodness!) I think my teeth look great but they took impressions (one of the most horrible things) and if my teeth are lined up then they will take them off BUT I will have to wear a clear plastic retainer over my teeth all the time apart from when eating. This will keep my teeth in position until a time if I decide to have surgery on my jaw, not sure what will happen if I decide not to have surgery *shrugs*.
Now back onto the main part of update since I've already talked about music and TV shows I might as well talk about my favourite video games.
I've recently played and completed The Legend of Zelda-Skyward Sword and it has definitely jumped into my top games list. This game is a must buy for anyone with a Wii (though be warned that you need either the wii motion plus attachment or a wiimote with motion plus built in, which is probably more recommended) It is hard not to compare it to the other Zelda game on the Wii-Twilight Princess but it is so much better. Not to say Twilight Princess isn't a good game in fact it is probably one of the best Wii games but there are too many things about it which I dislike. Skyward Sword did not excite me whenever I first saw trailer/images of it but have to say I was completely wrong Nintendo have managed to take a step back and take a series that has been going on for 25 years and make it feel fresh. The motion controls work a treat and even weak enemies now offer a challenge, no more waggling or repeatedly pressing buttons to beat them, they also make using other items (which I won't spoil) more immersive as well. Other changes have been to the overall gameplay instead of it is essentially being do A, B and C, get to dungeon, complete and move on it has been changed so that getting to the dungeon is almost as much of a challenge as the dungeon itself which is great. The dungeons themselves have been I guess you could say streamlined in that they appear shorter and less complicated but I enjoyed them more for that as you weren't messing about for ages lost trying to figure out where to go. The bosses are also much improved and generally offer more of a challenge/are designed better than the ones from previous games, Finally the story is one of the best reasons to get this game it is great for newcomers as it is the first game in the Zelda timeline and for Zelda fans as they will understand and recognise things from later games. The story is great because it makes you actually care for what happens to the characters and coming up to the finale I wasn't thinking about completing the game I was doing it for the characters (however cheesy that may sound). Whilst I don't agree with the scores of 10/10 or 100% because I don't believe the game is perfect, I do think that anyone who gives it a negative review needs to get their head checked as this is an amazing game and I hope that they do a direct sequel in order to answer some unanswered questions.
Two other Zelda games that I love are Ocarina of Time because everything about it is iconic and Wind Waker for its graphics and just as a brilliant game.
Batman Arkam Asylum has to be my favourite superhero game ever and takes that title from the brilliant Spiderman 2 game. This is a completely original game not based on any movies or comics that I know of and the developers had the great idea of making it so that rather than have you running about the whole of Gotham city the story revolves around the Arkam mental asylum which is on an island. This is great decision because whilst it doesn't take much time to get from one side to the other, it is filled with diverse locations and hidden secrets. The game really makes you feel like Batman, taking down rooms full of bad guys with guns one by one, using every gadget that Batman has at his disposal and beating rooms of thugs up despite being heavily outnumbered. One of the best things about this game is the fighting system. There are also challenge rooms which are separate from the main single player campaign, these challenge you to either fight rounds of increasingly challenging thugs or in the predator missions you have to take down all the thugs in a room using specified methods e.g. take out two thugs using explosive gel at the same time. The only negative points about this game are that the finale whilst not bad is a bit disappointing in that it is so simple and also the detective mode is so good that you will probably have it on the majority of the time and hence miss the brilliant graphics.
I've always loved the Mario Kart games and during my GCSE exams I developed an addiction for Mario Kart Wii, whenever I wasn't revising I was generally playing it. It added bikes into the mix for the first time which was quite controversial. This backfired a bit as bikes were generally seen as being better than the karts due to their tight turning and ability to wheelie for a boost at anytime and I definitely prefer them. The online was a great example of what online gaming on the Wii should be like and the majority of the time there weren't any problems. With great single player including time trials which told you when you had beaten the basic developer records and also what the world records were (although some people unfairly exploited glitches to get ridiculous times), a great multiplayer and a large selection of characters, vehicles and levels it is definitely one of the best games in the series. Unfortunately the dreaded blue shell still remains and so it is a very real frustration to be leading for the entire race only to get hit with one or more of these and come last.
These are obviously not all my favourite games but this is a lengthy enough post as it is, thanks for reading.
Don't really have any updates as such compared to my own situation, but have some definite ideas for features which I hope to post after Christmas when things are a bit calmer. One thing I can say is that I may be getting my braces removed soon (thank goodness!) I think my teeth look great but they took impressions (one of the most horrible things) and if my teeth are lined up then they will take them off BUT I will have to wear a clear plastic retainer over my teeth all the time apart from when eating. This will keep my teeth in position until a time if I decide to have surgery on my jaw, not sure what will happen if I decide not to have surgery *shrugs*.
Now back onto the main part of update since I've already talked about music and TV shows I might as well talk about my favourite video games.
I've recently played and completed The Legend of Zelda-Skyward Sword and it has definitely jumped into my top games list. This game is a must buy for anyone with a Wii (though be warned that you need either the wii motion plus attachment or a wiimote with motion plus built in, which is probably more recommended) It is hard not to compare it to the other Zelda game on the Wii-Twilight Princess but it is so much better. Not to say Twilight Princess isn't a good game in fact it is probably one of the best Wii games but there are too many things about it which I dislike. Skyward Sword did not excite me whenever I first saw trailer/images of it but have to say I was completely wrong Nintendo have managed to take a step back and take a series that has been going on for 25 years and make it feel fresh. The motion controls work a treat and even weak enemies now offer a challenge, no more waggling or repeatedly pressing buttons to beat them, they also make using other items (which I won't spoil) more immersive as well. Other changes have been to the overall gameplay instead of it is essentially being do A, B and C, get to dungeon, complete and move on it has been changed so that getting to the dungeon is almost as much of a challenge as the dungeon itself which is great. The dungeons themselves have been I guess you could say streamlined in that they appear shorter and less complicated but I enjoyed them more for that as you weren't messing about for ages lost trying to figure out where to go. The bosses are also much improved and generally offer more of a challenge/are designed better than the ones from previous games, Finally the story is one of the best reasons to get this game it is great for newcomers as it is the first game in the Zelda timeline and for Zelda fans as they will understand and recognise things from later games. The story is great because it makes you actually care for what happens to the characters and coming up to the finale I wasn't thinking about completing the game I was doing it for the characters (however cheesy that may sound). Whilst I don't agree with the scores of 10/10 or 100% because I don't believe the game is perfect, I do think that anyone who gives it a negative review needs to get their head checked as this is an amazing game and I hope that they do a direct sequel in order to answer some unanswered questions.
Two other Zelda games that I love are Ocarina of Time because everything about it is iconic and Wind Waker for its graphics and just as a brilliant game.
Batman Arkam Asylum has to be my favourite superhero game ever and takes that title from the brilliant Spiderman 2 game. This is a completely original game not based on any movies or comics that I know of and the developers had the great idea of making it so that rather than have you running about the whole of Gotham city the story revolves around the Arkam mental asylum which is on an island. This is great decision because whilst it doesn't take much time to get from one side to the other, it is filled with diverse locations and hidden secrets. The game really makes you feel like Batman, taking down rooms full of bad guys with guns one by one, using every gadget that Batman has at his disposal and beating rooms of thugs up despite being heavily outnumbered. One of the best things about this game is the fighting system. There are also challenge rooms which are separate from the main single player campaign, these challenge you to either fight rounds of increasingly challenging thugs or in the predator missions you have to take down all the thugs in a room using specified methods e.g. take out two thugs using explosive gel at the same time. The only negative points about this game are that the finale whilst not bad is a bit disappointing in that it is so simple and also the detective mode is so good that you will probably have it on the majority of the time and hence miss the brilliant graphics.
I've always loved the Mario Kart games and during my GCSE exams I developed an addiction for Mario Kart Wii, whenever I wasn't revising I was generally playing it. It added bikes into the mix for the first time which was quite controversial. This backfired a bit as bikes were generally seen as being better than the karts due to their tight turning and ability to wheelie for a boost at anytime and I definitely prefer them. The online was a great example of what online gaming on the Wii should be like and the majority of the time there weren't any problems. With great single player including time trials which told you when you had beaten the basic developer records and also what the world records were (although some people unfairly exploited glitches to get ridiculous times), a great multiplayer and a large selection of characters, vehicles and levels it is definitely one of the best games in the series. Unfortunately the dreaded blue shell still remains and so it is a very real frustration to be leading for the entire race only to get hit with one or more of these and come last.
These are obviously not all my favourite games but this is a lengthy enough post as it is, thanks for reading.
Thursday, 8 December 2011
Life's too short
I don't know if anyone has watched this program but those who have probably know that it is rather cringe worthy and tends to toe the line with what its acceptable on TV. For those who don't know it is a fake documentary about Warrick Davis who is a little person. In real life he is a successful actor, happily married, well liked etc. but in the documentary it is a completely different story. Most of the time it does just attempt to be as cringe worthy as possible but it also has some good messages.
In tonight's episode Warrick went on a date, his date was also a little person, he went to the restaurant and she was already there, the waiter just assumed that she was his date because they were both little people and this got Warrick upset and rightfully so.
The fact is that people shouldn't make assumptions that people with medical conditions can only have relationships with people who have the same medical conditions and I think any person that thinks people like Warrick should only be allowed to date other people with the same medical condition (and I'm sure there are people like this) should be ashamed of themselves.
It is as ridiculous as saying that blue eyed people should only be allowed to date other blue eyed people. As cheesy as it sounds it is definitely true that what's inside counts and people with conditions should be allowed to date anyone without people making comments or assumptions. If people can't see pass their looks or their condition then that is their loss.
I will continue this theme on what people's "opinions" involving people with genetic conditions and other things in a longer update soon.
In tonight's episode Warrick went on a date, his date was also a little person, he went to the restaurant and she was already there, the waiter just assumed that she was his date because they were both little people and this got Warrick upset and rightfully so.
The fact is that people shouldn't make assumptions that people with medical conditions can only have relationships with people who have the same medical conditions and I think any person that thinks people like Warrick should only be allowed to date other people with the same medical condition (and I'm sure there are people like this) should be ashamed of themselves.
It is as ridiculous as saying that blue eyed people should only be allowed to date other blue eyed people. As cheesy as it sounds it is definitely true that what's inside counts and people with conditions should be allowed to date anyone without people making comments or assumptions. If people can't see pass their looks or their condition then that is their loss.
I will continue this theme on what people's "opinions" involving people with genetic conditions and other things in a longer update soon.
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