Re: Food glorious food

A parent of a child with Treacher Collins Syndrome coincidentally posted her own blog update about feeding but has gone into far more detail than I have on what it actually involves, you can read it here:
http://storyofkobe.blogspot.co.uk/2012/11/a-day-in-life-of-kobe-and-his-feeding.html?spref=fb

This is the first time I've heard someone talk about using blended food straight in as I thought you had to use specially designed formulas but I guess you learn something new every day.

Food glorious food

It's no secret that I enjoy my food even if some of my friends like to joke that I only ever eat ham sandwiches  but I've not always been able to eat properly. As far as I'm aware up until the age of eight I had a gastric feeding tube. For those who are not aware a feeding tube (or at least the one I had) is surgically implanted in order to deliver food straight to the stomach, it is held in the right position by a small balloon and the outside has a lid on it which you open when connecting the food supply.

As far as I can remember mine looked pretty similar to this

Some of you may think that it sounds horrible but the only really bad thing about it for me at the time was that it took away from play time. That said I didn't like having it changed (every time the balloon deflated then the tube would become loose and indicate that it would need changed) but I'm not sure why I got so worked up about it since it didn't really hurt it was just a bit uncomfortable. I did eat normal food as well (I think) but it wasn't enough to keep my weight up mostly because I struggled to eat with the way my mouth is. I  do still remember the day that the doctor decided I could do well enough without it at the quite late age of eight and I was very happy to be rid of it probably because it meant I would be more like my friends and also because it meant I could start swimming. The removal process just meant taking it out as if it was being changed and leaving it out, no surgery necessary. A dressing was put over it and it closed from the inside all by itself unfortunately it didn't really close up on the outside and so I like to joke that it is my second belly button. I know I am very lucky since I don't need it any more but it is quite an obvious scar and every now and then it becomes more sensitive (it is quite sensitive to touch most of the time) which can be annoying.

Even though I didn't have the feeding tube any more I still wasn't on a 100% solid diet and I had these so called malnutrition drinks called fortisip several times a day to boost my calorie intake. I guess you could say they are kinda like a milkshake and come in different flavours like chocolate, tropical, strawberry, banana etc. Whilst I could probably go without them now I'm not so big on the whole breakfast thing in terms of cereal or toast or whatever so I still have a double fortisip to start the day (it may also be that |I'm slightly addicted to them ha ha).

mmm yummy!

In terms of eating speed before I started university I was able to eat a lot more quicker than in the past and there wasn't so much of a delay between my family finishing dinner and me finishing dinner. Unfortunately when I started university I got a bad throat infection which seemed to drag on and combined with stress and other seemingly misdiagnoses I had quite a long period where my eating slowed way down and I think even after my throat was fully healed my confidence was knocked which meant that my eating didn't immediately return to the speed it was that. Thankfully I think I've started to speed up a bit and hopefully I will be able to eat at a more normal pace despite the limitations of my jaw.

Whilst I do enjoy many different kinds of food I do have one addiction and that is to Krispe Kreme's original glazed donuts. It is a good thing that they are not available here as I would probably eat several a day as they are that good. They only appear to be available in England or the USA.

My not so secret addiction

Thanks for reading.

The many returns

Sorry for a lack of updates but due to being back at uni and not really being sure what to write has meant it's been over a month since my last update.

This is a bit of a mix of a blog post, the theme being returns. I'll start off talking about my return to university and the start of my final year. Unfortunately it has not been that great and I have to say I enjoyed last year a lot more than I am enjoying this year so far. I think it's a combination of factors the main one being that I'm not seeing my friends anywhere near as much as I did the two previous years, this is due to us all doing different combinations of modules (although most of us do parasitology, but that is only 3 lectures a week) and we have far less lectures than we did before with only two modules per semester compared to three the previous two years.  The other main factor for my discontent is the large jump in work load, I have two essays one for each of the modules plus a bunch of quite large assignments for my honours project (the honours project counts as two modules and takes place over both semesters, we chose topic titles over the summer and we have to complete individual projects including practical work, written assignments and a presentation). This means that breaks between classes are usually spent in the computer rooms working on these assignments compared to last year where it was not uncommon for us to just sit and chillax as a group over two hour breaks. Also I've now started the practical work for my honours project which means I'm in the lab from 9.30 to sometime in the late afternoon usually on both Thursday and Friday. It is a good experience and I'm sure I will learn a lot of useful techniques but so far it hasn't been the most enjoyable and I kinda feel like I've lost some of the confidence I gained from my work over the summer (different lab, easier work). It's not all doom and gloom thankfully one of my friends has many of the same breaks as me so their company has kept me from completely cracking up even if we are sitting working away. I'm also now off for a "reading week" so hopefully I can get most of the work on these assignments done.

Well that's the stuff about my life out of the way so if you wanted you could probably stop reading now but I'm going to continue rambling anyway.

As I've said before I'm a massive fan of Doctor Who and season 7 started over the summer and the mid-season finale aired a few weeks ago. The first episode aired whilst I was away on holiday, I had originally planned to wait until I got home to catch up but after the paper spoiled something in an article headline I ended up watching it on a poor quality internet stream, thank goodness I didn't read the full article before I watched it as it ruined a major plot point. I'm not going to post any spoilers of any kind but I will say that season 7 has been pretty great so far, and pretty consistent as well which is good. The asylum of the daleks episode was a fantastic opener and whilst not focusing on the daleks themselves as much as the hype suggested it did make them scary again after the ridiculousness of Dalek episodes (for example Journey's end). Dinosaurs on a spaceship was a fun episode introducing a great new character but also had some suprisingly dark moments as well. A town called mercy has split opinion some say it was the best episode of the season so far and others thought it was below par, I thought it was decent but could've been better. The power of three could've probably been a two parter, it's ending was rushed and some things were not explained but as an episode exploring Amy, Rory and the Doctor's relationship it was great. The angels take Manhattan was a great episode and a great mid-season finale and featured the return of the weeping angels which are always good for a scare, I'm looking foward to the christmas special and hopefully it will be better than the last two, I'm also curious to see how some of the internet theories about recurring themes from the episodes play out, some of them definitely seem like they will mean something and others seem a bit too subtle.

Turning now to music after quite a long break Muse (as I've said before they are one of my favourite bands) have returned with their new album the 2nd law. I have to say I wasn't impressed with the first two released songs-survival and the 2nd law-unsustainable but madness  redeemed my hope in it. For those looking for a return to old school Muse you will probably be disappointed but as an album it's a lot better than most of the trash out there and is probably better than the resistance (though I think it gets too much criticism especially with the fantastic exogenisis symphony on it). It is quite a diverse record as well, Supremacy is clearly attempting to combine aspects of classic Muse with a bond theme, Madness is very stripped down and builds up slowly (though I prefer the live version with the guitar prominent in the mix), Panic station is probably the most surprising track on the album as it is Muse doing funk and Matt ooohs and aaahs throughout, it has an another one bites the dust esque bassline, a supersition like brass section and an very catchy solo, prelude is filler orchestral stuff, survival is pure cheese, follow me is much better, a very synth heavy song (but again I prefer the live version), Animals is a lovely surprise that really shows off Matt's guitar skill, Big freeze sounds like they tried to write a U2 song but it's by no means a bad song, Chris (the bassist) suprisingly sings not one but two songs on the album apparently about his alcoholism but I think I prefer the liquid state to save me, the first of the 2nd law songs-unsustainable has flashes of a great song but I just found it a bit silly with the woman news reader talking, the 2nd law-isolated system is a decent instrumental but just doesn't compare to the exogenisis three parter on the previous album. Overall it's great to have Muse back and it's nice to see them doing their own thing but this album could be better.

Well that's it from me for now, thanks for reading.

Summer-part 2

It's hard to believe how much time has passed and that tomorrow I start back at university. It's been a bit of a mixed summer and a bit different from usual what with the time I spent working in one of the labs at uni, going away on holiday so late and the fact that the weather has been so flipping awful for the most part. That said it has  also been a great summer because I've done a lot more than usual with paintball, concerts, nights out etc.

My time in the lab went pretty well, gave me a bit of a boost in confidence in terms of my practical skills, I got some good experience and it meant I wasn't sitting at home lazing about for 3 weeks. My supervisor was very helpful and thankfully gave me clear instructions that said they really need to install air conditioning in the lab as it was unbearably hot at times.

Before we went away on holiday me and my brother went to both days of Tennants Vital which is a 2 day music festival in Northern Ireland but each day starts in the afternoon and there's no camping. I am extremely lucky because my brother also runs a fan site for it and other Northern Irish festivals and so he was able to get us two press passes which meant we not only were able to bypass the queues but we were also guaranteed access to the pit area. The first day was fantastic with the Foo Fighters playing an amazing and memorable set. The Black Keys were also awesome as were the Northern Irish band-Trucker Diablo, unfortunately I wasn't that fussed with either The Minutes or The Cribs. The second day was more of a mixed line up but was still very enjoyable. I plan to do a feature where I talk about all the bands I've seen live so look out for that.

This is me outside the pit before the gates opened 

I went to Malta with my family and it was nice to go somewhere hot and sunny after the dismal summer we've had. The apartment which we stayed in was very nice and very fancy, much better than a cramped hotel room. It was definitely more of a relaxing holiday although we did go out to the walled city of Midina one day and the capital Valletta another. There were also lots of cats about which was nice to see especially since they looked a lot healthier than those we've seen in Cyprus, by the end of the holiday we had regular visits from four different cats who obviously lived in the complex looking for food. There was also the bonus of the journey to and from Malta being a lot shorter and less stressful than that of the journey to the states last year, especially coming home.

Thanks for reading.

New Facebook group

I have thought for a while now about the fact that the Treacher Collins Facebook groups and also the popular Yahoo group/email thing are mostly populated by parents of kids who have Treacher Collins Syndrome and whilst that's great for them to share advice and talk about medical issues it results in the majority of stuff being from parents and so ironically the people who actually have TCS don't feature as much. It was only when I was talking to another member of one of the TCS Facebook groups that I realised I wasn't the only one thinking this, so I decided to make my own group, obviously people can still be members of the main groups but this group is specifically for people who have Treacher Collins Syndrome to actually be able to talk and share pictures and advice or whatever without having to wade through all the posts from parents talking about their kids as they tend to do.

So here it is:
https://www.facebook.com/groups/168099453326386/

I've set it to closed privacy so I think I may have to choose whether to admit people or not but as long as you have Treacher Collins Syndrome you are more than welcome to join, hopefully we can get enough people to make it worthwhile.

Teeth

I've always had a bit of a tough relationship with my teeth despite taking good care of them usually having fizzy drinks only at the weekend and not really eating sugary sweets, I still seemed to have to get quite a lot (well it seemed like it) of fillings and teeth removed. I also had a problem with a tooth sinking back into the gum which had to be removed under general anaesthetic. I also had to have a lovely big healthy tooth removed before having my lower braces on, thankfully it healed up nicely.

These various treatments were not helped by the fact I used to be terrified of going to the dentist to the point that my mum wouldn't tell me about the next appointment until the day before so I wouldn't sit worrying. Having four teeth removed (I think they were milk teeth) at one appointment alone definitely did not help and the next time I was told I needed teeth taken out I was almost hysterical (whilst this was years and years ago I wasn't exactly a child any more).

Candy teeth, yum...

Thankfully over time I've grown much calmer and used to going to the dentist, although I still detest the drill with a passion. The three years or so I spent with braces and the regular orthodontic appointments probably helped me get more used to being in the chair. Whilst this seems like quite a long time it was probably due to how crooked my teeth actually were and also because I only started with upper braces and had them for a good while before getting the lower braces as well. I had them removed earlier this year and have been using the plastic retainers since them as much as possible and whilst they were annoying at first I've definitely got used to them. The braces/retainers were not only to straighten my teeth but also preparing me for the future in case I decide I do want to have jaw surgery although I've been told that I will need further work if I do decide to go down that route.

Thanks for reading.

Everlong

In my last post I was excited about covering this song at my music school's (ICM) summer concert, the concert was last night and went pretty well, once again I was surprised how good some of the younger students were though I guess my excuse was that I didn't start until I was 12 (I think).

 I am pretty happy with my performance though the sound could be a bit better but it's hard to get it right when you have so many acts and each one consisting of different instruments and line-ups and backing tracks etc. The drums were pretty loud for me and I was glad I could turn my hearing aid off though I'm not sure what happened with the bass, I thought I couldn't hear it because of where I was standing but you can't really hear it on the video either. I also know that it sounds a bit "empty" at times, the original has a second guitar and originally my guitar teacher was meant to be playing that part but he was drafted into playing bass and wasn't replaced.

Well anyway enough of my excuses and rambling, here it is:

Summer!

Well it seems like I've had a far busier summer than usual so far, usually after the exams I don't know what to do with myself but this year it seems like I've not been bored yet apart from when looking through my choices (all 145 of them) for my honours project for my final year. And of course typically the weather has been rubbish despite there being glorious blazing sunshine the last week of revision I had for exams.

On Saturday I went paintballing for the first time and I had a brilliant time although my muscles are still a bit sore from the exertion. I highly recommend it to anyone (within reason) as it makes a great day out never mind being a great work out. We are already planning our return visit before the start of university again in September. I also went to not one but two concerts last week the first being Blink-182 which were supported by The All American Rejects and the second was Ash's 20th anniversary concert. Both were brilliant and I plan on doing a feature in the future talking about all the bands I've seen live.

As for the rest of the summer my music school is having its summer concert on the 30th and I'm playing with some of the teachers in a band covering Foo Fighters-Everlong, so pretty excited for that. Later in the summer I'm actually going to see the Foo Fighters live as they are headlining day one of Tennants Vital and the main support is another of my favourite bands, The Black Keys, I can't wait. Another concert I'm going to is Two Door Cinema Club who are being supported by Noah And The Whale. I'm also hopefully doing at least a couple of weeks in the lab at my university working on a project to gain some extra experience and give me a slight advantage in terms of knowing what to expect in terms of the honours project. It's a bit strange this year because we are going away even later than usual, this time we are returning to Malta which we've been to once before, many years ago.

Well that's all for now, thanks for reading.

Dependence

Today I once again remembered how dependent I am on my hearing aid, woke up and put it on as I always do but it didn't seem to be working properly, changed the battery in case the one in it was dead or a dud but no difference either. Thankfully we keep several spare hearing aids (although only one of them is the same as the one I usually wear with the other two being old models) but the fact is if this had happened when I wasn't at home then I would've been up the creek without a paddle. Thankfully my hearing aids have usually worked well considering that they are pretty old and if a problem has occurred it hasn't been whilst on holiday or anything *touch wood*.

A more "frequent" problem is when the battery goes, this is an unusual thing to happen because I usually change the battery twice a week so if it dies it usually means it is a dud. It is a rather surreal experience when the battery dies it is almost as if someone is slowly turning down the volume of everything around you. The problem is that I usually don't carry batteries with me as it almost never happens and if I was in town or somewhere I could probably just go to Boots and buy a pack if I needed to. I would be more worried if I was ever some place where I couldn't get a replacement when I need it, whilst I can hear some things without it I definitely could not go through a normal day properly without it.

It also makes me thankful that I live in this modern age where hearing aids are available and allow people like me to hear relatively normally, I would hate to think how it was for people in the old days when there were no such things or if there were they were not readily accessible. And never mind the old days even in this day and age I am sure there are many people who don't have access to basic medical care never mind hearing aids and that thought saddens me.

Freedom!

Well my second year of university is finally over and I am finally free from the cycle of revision and exams hopefully until January. I now have potentially four months of freedom, that said I would like to do something productive for example do a summer studentship (i.e. a project in the lab/field with my university) but of course like all things with my uni it cannot be that simple or even well organised.

It seems really weird that I have completed two years of my degree already with only one more to go but I have to say although it has had its ups and downs I have enjoyed it so far. It has helped to have a great group of friends and it has been nice having the longer breaks on busy days just to chill and chat. Of course I'm sure next year will be even tougher with the added pressure of an honours project to complete which will bring new challenges and I'm a bit nervous about the final presentation.

That's all for now, will have more updates soon.

My looks do not define me-Part 4

I realise that it has been a while since I've posted one of these so I'd thought I move away from controversial things and talk about superheroes.

I think I've always been a bit obsessed with superheroes but it has only been recently that I've actually obtained some actual proper comic books/graphic novels. I've always been a fan of Spider-man from watching the cartoon as a kid and also the Spider-man movie trilogy. I chose to get the first volume of Ultimate Spider-man which is a modern take on the Spider-man story without having all the continuity issues from the original comic to confuse new readers. As a first comic book I definitely recommend it and despite it being strange being able to whizz through it in a far shorter time than a book it is definitely enjoyable and rereadable. I enjoyed it and volume 2 which I received for my birthday so much that I plan to get the other volumes as well.

The other graphic novel/comic book that I got for my birthday is Batman Year One, which is also a "modern" take on the Batman story. This is a very different tone from Ultimate Spider-man, the colours are dark and dreary and the text is in the style of handwriting rather than just typed. In terms of its story it doesn't actually focus on Batman's origin in terms of how Bruce Wayne got to this point and instead shows his first year fighting crime in Gotham and despite the title saying Batman Year One, it actually focuses on James Gordan (the good cop) as much as or even more than Batman/Bruce Wayne. This is a fantastic read in my opinion and well worth a look and it is clear to see why Chris Nolan used it as inspiration for his Batman movies.

In terms of movies my top 3 favourites are:

• Spider-man 2-probably the first superhero movie I watched properly was the first Spider-man and I've watched it many times since, strangely though it is the second which is far better in my (and many other people's) opinion. Spider-man 2 managed to improve on first in so many ways, it was less camp, it had a better villain and better set pieces. It showed why Spider-man is so much more interesting a hero than say Superman as he's not invincible and he's essentially just a teenager who has these great powers and the desire to use them for good but despite now being a great hero he has to perform a balancing act to keep the rest of his life from falling apart. Unfortunately Spider-man 3 whilst not being as bad as some people would make out, undid a lot of the good work of its predecessor. Its problems listed trying to shove too many villains and plot lines into the one movie, not doing Venom justice as a villain and just the whole cringe worthy Peter swagger and singing/dancing scenes. 
• The Dark Knight-as much as Batman Begins did a fantastic job of  showing us the origin of Batman, The Dark Knight managed to be even bigger and better. It is hard to find anything wrong with this movie, even scenes that were just two people standing around talking had instantly quotable lines and great acting. In fact this is one of the most quoted modern films I think and this is mostly due to Heath Ledger's performance as the Joker. He definitely stole the show and it is a real shame that he died before being properly recognised for his performance.
• The Avengers (or Avengers Assembled which it has been called in some countries for some reason)-I know this is only recently out so I will not spoil anything as I would rather you appreciated it for yourselves but this definitely makes my top 3 list. Marvel had obviously been planning this for a while with 2008's Iron Man having an after credits scene that the first (I think it was the first) teaser of an Avengers movie was shown but it wasn't until this year that it finally happened albeit with Mark Ruffalo replacing Edward Norton as Bruce Banner/the Hulk (I'm sure he is kicking himself now). This is a fantastic superhero movie and its hard to praise it without spoiling anything but I will say that Joss Wheldon managed to do a fantastic job not only is this film full of awesome action scenes and effects but it also has a lot of laugh out loud moments and some great acting especially from Mark Ruffalo.

I don't really go for the whole Marvel vs DC thing, both companies have great unique characters and both companies are probably guilty of "borrowing" ideas from the other though from what I've seen it would tend to be Marvel more so than DC. I think in terms of movies Marvel is definitely winning in any competition especially now with the Avengers movie and the linking of the individual movies. DC only really have Batman (and I guess Green Lantern, though I've heard its pretty bad) and the trilogy is ending with the Dark Knight Rises, Nolan's Batman would be too realistic to fit into the wider DC universe anyway. There is a new Superman movie coming out next year but so far no trailers have been released.

DC are probably a long way from a Justice League movie and the after credits scene in the Avengers will annoy them (won't spoil it but do some research after you see it and you will get what I mean) but when they do eventually do a Justice League movie I hope it will look something like this:

Too many surgeries?

I am going to continue this cynical l trend from my last post and talk today about surgeries or more rather parents choosing for their children to undergo unnecessary  surgeries.

This is a fine line to tread and I understand that it must be hard for parents to not only have to decide which paths to take medically wise in terms of their children  who aren't old enough to decide for themselves but also to have to deal with their child's suffering which is made worse by the fact that they can't properly understand why it is happening to them. The question I would like to put forward today is, do certain parents push too many surgeries onto their children?

My answer from what I've read/seen/heard would be yes that CERTAIN parents do essentially force or put pressure on their children with TCS or I guess other similar conditions to go through surgeries which are not necessary and which should be left until the person is old enough to make a well informed decision. Now my view is probably very one sided because I haven't had any surgeries which were anything other to improve my health and or function. In fact I don't think I have had any surgeries (apart from having 3 teeth removed under general anaesthetic ) in the time since I was very young.

Of course as with everything it depends on the circumstances but in my OPINION, purely cosmetic surgeries should be left until the person is old enough to decide if they really want it or not, it may be in some cases that a parent/guardian has good intentions but for example just because a child is born with deformed/not fully developed ears doesn't mean that they have to have an operation to give them normal looking ears unless the child really really wants them and understands the decision fully.

I understand that I will probably strike a nerve with some parents who might feel the need to defend their decisions, but the fact is that I don't know what it is like to be parent and have to make these decisions and only they can know if they've made the right decision but operations are a big commitment, even minor ones pose some risk and I think SOME parents might  inadvertently make these decisions without actually thinking about whether or not its the best thing for the child at that time and whether or not they should leave it for the child to grow up and decide for themselves.

Wonder

So I've been hearing a lot about this new book called Wonder which is a fictional story about a young boy who has a facial deformity and the story is written from several different perspectives such as family members and class mates and the young boy himself. Now I have not read the book myself although I do plan to at some point but the way I understand it is that it is never mentioned that he has Treacher Collins Syndrome but the author has stated that that's what she has based his condition on along with other complications.

This book has been widely praised but I haven't heard what someone who actually has Treacher Collins Syndrome actually thinks of it and just wonder if it gives a realistic view or not. I hate to be cynical especially when this book will raise awareness about facial deformities but I just wonder what makes the author qualified to write a book about a young boy with TCS when she does not have it and her children do not have it. It seems from my research that her only real experience of it was when her children reacted badly to a little girl who they saw with TCS. She claims to have done several weeks of research into genetic conditions yet makes up a mysterious complication to complicate his life further....Also he seems to be able to speak and be understood clearly (from the amazon preview) yet this wouldn't be expected to be the case if he has such a severe case of TCS that he has already undergone 27 surgeries and has to have a towel placed under his head whilst sleeping in the car so he doesn't drool over his sister (also in the preview).

I will have to reserve full judgement until I read the book but I have my doubts from my brief time looking into it as to how well it represents the experiences of people with facial deformities and conditions such as TCS beyond the basic level. It also seems almost disneyesque from what I've read of the reviews with some disturbing scenes but with everything turning out all right in the end (again I have not read the book this is just the impression I am getting) and we all know that real life is not usually like that.

So it seems to me that while this book may be what we need in terms of getting rave reviews and people becoming more aware in terms of facial deformities/people who look different, it isn't the book that people with TCS and facial deformities deserve to have tell their story and that's something that's written from real life experiences and which doesn't hold back in terms of the negative aspects and doesn't necessarily have to have a happy ending.

Apologies

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

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.

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.

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.

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.