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.

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.

Busy busy busy

Sorry for lack of updates second year of university has been pretty hectic, lots of practical reports to hand in not to mention the fact that I am in around 20 hours a week, compared to some of my friends who's courses only require that they be in for a tiny 7 hours. I'm pretty worried about exams as I have had literally no time to go over my notes and do extra reading but hopefully with it tailing off before Christmas I'll be fine.

Don't really have anything relevant to talk about today other than the fact that yet again I've been asked if I want a BAHA, the fact that I've been asked so many times almost makes me not want one. As I've said before I am pretty happy with what I have at the moment, its definitely not top of my list of things to do.

In other news finally realised that the reciever that I use with my new radio mic system actually works with my old system so I can use that with my ipod although this means I have to carry two systems to uni (whenever I'm not using the new system it goes in my bag) and make sure both are charged/have fresh batteries. Also got a hard case to protect my expensive ipod but of course like everything not even that was simple, you see to use an mp3, headphone jack on pc etc. I have to connect them to my radio mic system using a special cable, apparently these cables only come with angled jacks and of course the hard case doesn't like angled jacks as they won't fit properly. It does work but it comes loose very easily, just another example of how TCS affects almost everything.

Parenting

Saw this the other day and I have to say I think the mum shouldn't have done this:



First of all I cannot understand why she seems to have forced her child to appear on youtube and essentially telling him what to say and secondly he clearly isn't happy doing it.

I'm all for raising awareness and standing up and being proud but this is taking things a little too far. I think children with TCS should experience what I had which was a childhood as normal as possible, its bad enough having all the hospital appointments and other issues without your parents forcing you to appear on youtube.

Also its not like she can even show him the nice comments from people without him seeing the comments from trolls. These comments make me so so very angry but they want a response they seem to get off of it so the best thing to do is just flag their comments as spam and report them to youtube.

My looks do not define me-Part Two

Welcome to part 2 of this series, today I'm going to talk about TV series that I like.

Might as well start off with the most ridiculous one-Dragonball Z, not sure if many people got my its over 500 reference but that's where its from. Dragonball Z is based on a manga series and is the sequel to Dragonball. In Dragonball Z we follow the story of Goku, who is now grown up, married and has a kid (he is a kid in Dragonball) and his friends on their adventures and battles and their quests to collect the magical Dragonballs which when collected allow them to make a wish. Some people will probably love the show and others think it is ridiculous nonsense but the main draw for me are probably the brilliant fights. I think it is awesome and I would still go back and watch episodes from time to time.

LOST is another ridiculous show but in a totally awesome addictive way. To give anything away would just be wrong but lets just say that these plane crash survivors have a lot more to worry about than just surviving. It spans 6 seasons and whilst it turns get ridiculous and confusing at times it is still far better than most TV shows, great acting, great story and great music. I highly recommend it.

Dexter, now this is definitely more for adults. It is based on the series of books by Jeff Lindsay but the TV show follows a different storyline to that of the books. It follows Dexter Morgan who by day works as a blood splatter analyst at Miami Metro Police Department but at night he is a serial killer. The unique thing is that Dexter does not just kill anyone instead he only kills those people who he thinks deserve it for example murderers and rapists who have escaped the law. It deals with how Dexter deals with his double life and you actually find yourself cheering for him and laughing when he gets into awkward situations.

Doctor Who, I never watched the old series but I understand it is quite different than those from after the revival. It tells the story of the man known as the Doctor (who is actually an alien) as he travels through time usually with one or more human companions having adventures. One unique thing about the Doctor is that he can regenerate which means he can change his body and his personality which is why 11 actors have been able to play him so far. I would recommend that you start from the beginning of the revival but it is not necessary to be able to follow whats going on but I would recommend that you at least start from the beginning of season 5 as with Matt Smith as the Doctor and Steven Moffat as head writer the storyline has been overarching over 2 seasons and into next season as well.

Smallville, I used to snigger at the adverts for this but I later got into it and I have now watched all 10 series of it. It follows the story of a young Clark Kent starting with the day he came to Earth and then skipping forward to his time at high school. We see how he deals with controlling his powers whilst developing new ones, his attempts to play football against his father's wishes, his crush on Lana Lang and his new friendship with Lex Luthor. Of course not all 10 series are set during his time at high school and as it progresses we start to see who he will become. As much I like this show I would say at 10 seasons it is rather long it also has a limited budget which means it does not fulfil its potential at times and some of the special effects/cgi are rather lacking on the positive side it features some great acting (Michael Rosenbaum is in my opinion a far better Lex Luthor than Kevin Spacey and Gene Hackman), great banter between characters and a good few funny moments as well.

Has the best theme song ever as well



This is obviously not the full list of shows that I like but its a good sample.

Thanks for reading!

A quick update

Sorry for lack of updates, they weren't kidding when they said level 2 at university was a step up.

For those wondering my lower eye lashes have grown back which is rather annoying but I will not be trying the laser treatment again no matter what.

Also found out about a new hearing aid that operates similarly to the BAHA but works through magnets which means that you don't have the implant sticking out which means no maintenance, no bald spot and it heals quicker than the BAHA site, http://sophono.com/products/, will definitely be keeping an eye on this but apparently its processor is not as strong as others and so it will not work for some people.

And finally, reached 600 views recently, thanks again for all the support and positive feedback!

Hearing aids

I thought I might as well post about hearing aids since as far as I know anyone affected with TCS will have hearing loss. I am old school in that I haven't upgraded to a digital aid but like with what happened with my radio mic system I will be forced to upgrade if it breaks as the parts aren't available any more.

There are several different types of hearing aids:
Behind the ear hearing aids-what most people use especially older people with hearing loss, not really suitable for people with TCS who don't have proper ears.
Bone conducting-this is what I have, it consists of two pieces on connected by a wire, it is mostly used on a removable metal band which is placed on the head with each piece on either side of the head but I find a fabric band to be much more comfortable.
Bone anchored hearing aid (or BAHA as it is more commonly known)-for this you have to get a screw implanted in the side of your head, once healed you can then attach the small hearing aid.

I have not included cochlear implant as apparently it is not considered a proper hearing aid.

Recently it seems every doctor I meet asks have I considered a BAHA and to be honest whilst I've thought about it I'm just not fussed on the idea of having a screw on the side of my head which requires surgery and which could possibly but not very likely be knocked out along with a bit of skull (I had asked a doctor about whether or not it could be knocked out and he said very rarely but told me of an instance where a mother had hers knocked out by her child's shoe...) The line I always seem to use is "what if something better comes along in the next few years that doesn't require surgery" but I may be kidding myself. The fact is I've heard a lot of positive things about the BAHA and also that it is a lot better than the bone conducting but for now I think I'll stick with the one I have at the moment as I've managed pretty well with it up to now.

Its over 500!

Over 500 views, have to say I'm thrilled with how successful this blog has been. I have had nothing but positive feedback and I hope to repay this by continuing to write as much as possible. Unfortunately since I'm back at uni it may be that I do not update as regularly but I will try and make each post as informative and interesting as possible.

Thanks for the support.

Technology

Isn't it great? Well the answer is yes most of the time but if you depend on it and it does not work then it is a real pain in the rear. Because I am partially deaf I have to use a hearing aid so I am dependent on it, so there is always the worry of the battery dying when I'm out and about, it is rather surreal when you are walking along and suddenly its like someone is turning the volume down slowly. Its  even more worrying if you realise that you have forgotten to change it and then you hope that it will hold out until you can change it.

What's more annoying than the very occasional dead battery is the constant need to improve things. I use a radio mic system in order to hear the lecturer more clearly and have used the same one from primary school to high school. But last year I was told that if the university was going to supply a system it would have to be an upgrade as the one I had wasn't being made any more and if it broke the parts to fix it would not be available. What a lot of hassle it turned out to be, needed a new receiver, couldn't figure out how to work it properly, it wouldn't work etc. etc. So last year at uni I had just used my old system as it was a lot easier to use and it actually worked but of course the night before I go back to uni I check that its working only to find out that the mic cable has split open...Thankfully between today and yesterday it has decided that the new system will work but we shall see.

Lets compare the two systems shall we:
Old system:

• On/off switch
• Low battery indicator
• Requires one AA battery usually lasts more than a week
• Small and light, clip is built in
• Mic cable is removable, just need to remove it and plug in audio cable for music

New system:

• On/off switch
• Mic mute button
• Synch function
• Monitor function
• Menus with settings
• 3 level battery indicator
• Requires to be plugged in to charge
• Clip is removable but is very bulky
• Mic is much larger, removable but only with a lot more effort
• Has settings for audio devices which include general and ipod nano...and both don't seem to work properly with my mp3 player

Yes the new system has more features and is apparently an improvement, I just can't understand why people should be forced to upgrade when the old system works so well and they are used to it.

My looks do not define me-Part One

One problem that people with a facial disfigurement/disability etc. have is that people sometimes don't seem to understand that apart from that one thing that makes them stand out they are in fact no different from anyone else.

This is what this series of posts is about, I will post between regular posts every once in a while about something not related to TCS.

So after stating my deep appreciation to be able to listen to music I might as well talk about the bands/artists that I like.

My top 5 bands at this current time would have to be:

1. Radiohead-such an amazing and versatile band, top of my list even though their first album isn't that great and their most recent album is hard to get into.
2. Muse-I hate it when people say they are a Radiohead tribute act when they sound nothing like them. Three amazing musicians who know how to put on a show and write some cracking tunes.
3. Foo fighters-have to say I'm not a fan of some of their songs but they have such a list of hits that it doesn't matter. A truly modern rock band with a great sense of humour (see their videos for learn to fly, a long road to ruin etc.)
4. Biffy Clyro-another band who really know how to rock, watched their revolutions live dvd recently and was blown away at how fantastic they were.
5. The Killers-saw them live a few years ago and they smashed it out of the park. I remember when I got my first mp3 player and Mr. Brightside, Smile like you mean it and Somebody told me were three of my most played tracks.

Favourite songs at the minute are:

• Queens of the stone age-lost art of keeping a secret
• Tired Pony-that silver necklace 
• Red hot chili peppers-raindance maggie
• Two door cinema club-come back home
• Snow Patrol-called out in the dark

Also saw this the other day, not that fussed on the screaming/yelling but that chorus has been stuck in my head since I first heard it:

Treacher Collins Syndrome in the media

Thought I might as well talk about TCS in the media as TV especially has raised awareness of TCS through various programmes.

I might as well start with the man himself Jono Lancaster who has been in several different programmes, interviews and magazine articles.I am not going to repeat his story in its whole but the basics are that he was given up for adoption just 36 hours after being born because his parents couldn't or wouldn't cope with his condition. He was adopted but has had to deal with bullies up to this very day.

The first documentary he was involved in is called Love Me Love My Face, this is a documentary about his life and his quest to find his birth parents. And the second one he is featured in is called What if my baby is born like me, this talks about the decisions that he and his girlfriend Laura will have to make in terms of whether or not they should have a child and what options are available to them.

http://www.bbc.co.uk/programmes/b00w4gkv-love me love my face
http://www.bbc.co.uk/programmes/b010n37y-so what if my baby is born like me

Andy Tedder featured in an episode of the channel 4 series beauty and the beast-ugly face of prejudice. In this series people with facial disfigurements are brought together with people obsessed with their looks. Beauty queen Elicia is shocked by his looks and when she finds out he has not been in a relationship she asks him if he would ever consider a prostitute...this is made even more awkward by the fact that Andy is a firm believer in Christianity. But in the end I think the experience actually helps her and she may in fact spend a bit less time focusing on her looks.

Here is the link, as far as I'm aware you can still watch it:
http://www.channel4.com/programmes/beauty-the-beast-ugly-face-of-prejudice/episode-guide/series-1/episode-3

Another documentry is born without a face which is the story of Juliana Wetmore who was born with a very severe form of TCS. It follows her and her parents and talks about the various surgeries she has had to undergo.

http://www.julianawetmore.net/story.php-her story on the website her parents and her nurse post updates on. (note of warning the pictures are pretty shocking if you haven't see her before)

TCS was also featured on:

Nip tuck in the episode "Blue Mondae" in which one of the plastic surgeons comes across a guy with TCS working in a coffee shop and for his own selfish reasons he offers to "fix" him for free, the surgery doesn't miraculously fix him and he then decides that it was a mistake and doesn't want to go through the pain and embarrassment of further treatment not the most uplifting piece of TV.

Also Greys Anatomy in "Start me up" in which their patient Sarah had TCS (although in my opinion not proper TCS as she was only missing cheekbones) she wanted surgery in order to be able to play sports without fear of getting injured through her lack of cheekbones.

The quest for glasses

It seems that having TCS wasn't enough for me I also have poor vision. Well obviously a lot of people have poor vision so what's my point? My point is that most people don't have TCS. Now hold on I'm not complaining about this double whammy what I'm complaining about is this fashion trend of narrow rectangular glasses. With the way my eyes are I need larger frames which actually cover my eyes not these wee things. As a child I didn't have this problem but as I got older and this trend came into being it became harder and harder to find glasses that suited especially since I had to replace them every year since 1) I was growing 2) I kept on damaging my glasses in various ways, getting hit with a football was probably the main one. So rather than being able to go get my eyes tested and go to one place and find a pair of glasses we were forced to go hunting for glasses with deeper frames sometimes we would try 3 or 4 places before finding any. It has only been recently that the frames have started to become a bit deeper but last week I ended up just getting my glasses re-glazed as none of the ones I tried on in the shop suited.

Never again

Well it turned out that it was a laser treatment rather than electrolysis to remove my lower eyelashes. Wasn't very confidence inspiring to be told that there was a good chance that it wouldn't be permanent and that they could grow back, I decided to go ahead as we were there and if it worked then great. I have to say I regret this decision, I'm sure that the local anaesthetic injection (2 below each eye) was one of the most painful things I've ever endured. It was far worse than any other injection I've ever had including at the dentist. To make matters worse when the doctor finally carried out the laser treatment on some of the "flashes" it still stung so the injections hadn't even worked properly. Most of my lower eyelashes seem to have been removed but I will have to wait and see if they grow back. But if they do I will just opt for the plucking option every time I go for an eye appointment as it was mildly uncomfortable but not painful.

Eyelashes

So it seems that my appointment to get my lower eyelashes removed has finally come through. I never really planned to get them removed but at my last eye appointment the consultant said that they could be causing damage to my eyes and that I should think about getting them removed. Of course he wanted to do it right there and then and so pretty taken aback I said that I would need to think about it. He decided that he would pluck them out that day ( a temporary solution compared to electrolysis) to see if it made any difference. To be honest I'm not sure if it did but they grew back a while ago and I noticed that one could indeed be rubbing my eye and since they serve little or no purpose I might as well get them removed. Bit apprehensive about it as with all hospital related stuff but if it means my eyes don't get damaged and are less red then that would be awesome.

Pride

One of the things about having a condition such as TCS or something else which means that you are at a disadvantage compared to the average person is that you have to learn when to accept help when it is offered. This can be very hard for some people including myself, it wasn't until my final year of high school that I finally accepted what I had been offered all along which was to do my exams away from the main exam hall and with some extra time. It was only with a lot of persuasion and my chemistry teacher calling me a fool (because anyone else would take it) that I finally gave in. The same for my first year at uni, I was very sceptical about their offer of a note taker amongst other things but as I've been told many times things like that are put in place to level the playing field and even if  I don't use the note taker's notes every time they act as a very useful safety net.

But on the other hand I do not like people who actively look for "freebies" just because they have something wrong with them. I read an article in which a deaf person described how they got free tickets to a show or something because they said to the manager that they were deaf, I think this is totally inappropriate and this behaviour should not be encouraged. I'm all for equality but not to an extent where people abuse the system.

Jobs

I have to say that as bad as the job market is it is even worse if you have to narrow your options. I would quite like to get a part time job for the experience but when you take away shop assistant, waiter or any other job that requires you to be face to face with a large number of people then there is not much left. You might ask why I have narrowed my options, it is due to having TCS. All of these jobs require you to be able to listen, communicate effectively and deal with the public and I do not feel as if I could do any of these well enough. I am a good listener but when it comes to a noisy shop environment it would be difficult and if you get a customer lacking in patience then they might get annoyed if they had to repeat themselves. As for communicating effectively due to my cleft palate even people who know me and have been around me for a long time have difficulty understanding what I say sometimes and I even carried around a notebook for uni in order to write anything down if people didn't understand me (I have since realised that my phone is just as good). But this would not be very practical in a job situation. Finally dealing with the public as I spoke about in my entry-"Stop and stare" people especially children can be quite cruel with staring and even comments so I would be nervous working in a shop when it is likely that I'll have at least one incident of this.

Thanks for reading.

Hearing damage

^Awesome song by Thom Yorke^

So again sorry for the lack of updates especially now that I've had over 200 views, this blog as definitely exceeded my expectations.

One of the things I feel I should talk about is how TCS affects people's hearing, again it probably differs with each person but it is something that is clearly associated with having TCS.

I had an interesting conversation with a friend a while back, I commented on how I felt bad for a girl in the year below us (who my friend was friends with) who was completely deaf and had to use sign language because she would never know what music was and my friend's response was along the lines of "you can't miss something if you never had it". This is true but I still feel bad for people who are not as lucky as me, I am eternally grateful for the fact that I can put on my hearing aid every morning and hear, which lets me enjoy music, play guitar etc.

Which is not to say my hearing aid doesn't have limitations, whilst on holiday I was again reminded how uncomfortable loud environments can be, my understanding is that people with normal hearing can tune out background noise and hence adapt to loud environments like restaurants but for me its just a big sea of sound.  Another limitation is that I cannot tell which direction a sound is coming from just by hearing it, for example if somebody shouts for me to come to them in my house I have to ask them which room they are in as I cannot physically tell.

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

Back in black

Sorry for the lack of updates, I felt I needed a break from this, I also couldn't update it whilst on holiday.

So anyway I'm back slightly more suntanned and definitely more relaxed than I was before. This is a short update and when I'm recovered from my long trip home I will post something more relevant.

Thanks for reading.

A break

I'm going to take a break from this for a while, spending too much time thinking about things instead of enjoying life.

Mr. Brightside

Sorry for not posting properly for a while I wasn't really sure what to talk about so I've decided to post something a bit more positive.

Here are the more positive aspects that I've found from having TCS:

1. You stand out from the crowd
2. You get more satisfaction from doing certain things as you have the knowledge that it has been harder for you because other people don't have to deal with the problems of TCS
3. I can turn my hearing aid off whenever I want, this has numerous uses such as protecting my hearing at loud concerts etc. and it also means that I'm not woken at night due to loud noises like wind, rain, people getting up earlier than me
4. I don't need to buy expensive headphones, I can listen to my mp3/laptop/dvd player wirelessly by plugging it into my mic system which transmits the sound to the receiver attached to my hearing aid.
5. This may just be me but I've learnt to appreciate things more such as music because I wear a hearing aid which allows me to hear things properly

Thanks for reading.

100 views!

Yesterday I reached the 100th mark for views (not counting my own obviously).
Thanks very much for the interest and support, I plan to do another update very soon.

Doctor Doctor

Over the years I have seen many many many doctors, some good, some bad and some that I will never forget but not in a good way. One such occasion was when I was still quite young (before my teenage years) and we had some hospital appointment or other about my snoring at night. In the past I had even had a machine at home which monitored it. My mum asked this doctor if there was anything else we could do to which he replied that they could "drill a hole in my head and monitor me overnight", my facial expression must have said it all as whenever we left my mum quickly told me not to worry, we would not be taking him up on his offer.

I never saw that doctor again.

Contact me

Just set up a separate email account specifically to do with this blog:
jab_tcsblog@hotmail.co.uk

You can email me with any queries, questions, comments etc.

If you want to chat about experiences there is also msn/live chat, so feel free to add me.

Stop and stare

Or rather don't.

One of the worst things that can happen to you if you have a physical feature that stands out is being stared at. It is something that can and at times does ruin a day out. Children are the worst culprits, it is fine if they are just curious I guess but some are very persistent and that's when it starts to really get annoying. What's even more annoying is that if the parents if they are about don't do anything about it. I've had some experiences where children have been extremely rude in their staring and their parents have completely ignored them.

What's worse than children staring at you/making a comment, people that should know better where it be older kids/teenagers/adults. One experience I had last year was this younger guy actually laughing whilst looking directly at me, no shame whatsoever, I hurried on due to embarrassment but my mum gave him a real earful so maybe next time he will think.

This is another problem with treacher collins syndrome in the fact that if your speech is affected then its hard to make a comeback or speak your mind and so you can't really do anything other than ignore them which is probably advised.

It is obviously easier when you are with friends/family but the fact is people need to be better educated, we have the right to go about our business like a normal person without being embarrassed or humiliated. I understand children will be children but their parents need to teach them manners. I've read some peoples comments that they would rather people came up and asked them about their condition but I would not be one of those people.

First year at university

So I'm currently enjoying my long summer holidays after a packed first year at university. Have to say it went probably better than I expected. I was rather nervous for obvious reasons I had left the comfort and familiarity of high school behind and this was a new start. Its a nervous enough time for most people but obviously I had the added burden of TCS.

I had one friend from school doing almost exactly the same course so I was lucky in that respect. I didn't enjoy first week at all, talk about information overload, I really think they need to make it easier for people to settle in rather than telling them all this information only for it to become clear that most of it you did not need to worry about. It was also annoying having to start again with new lecturers giving them my mic system and trying to explain to them how to use it.

The week did not end well, my throat decided to tighten to the point where I could barely drink. Several throat infections later and many many months down the line I am still having trouble although the doctors don't have a clue why but its far less severe than when it first started. Note this as far as I'm aware has nothing to do with TCS.

This is all the doom and gloom out of the way though. I found most if not all lecturers to be friendly and competent enough with the mic system. My fellow students that I spoke to were also friendly and I began carrying a notebook in case anyone couldn't understand what I was saying. It was refreshing that like at school no one really seemed to take any particular notice to me, I cannot remember one instance of someone staring.

One of the first things we did was to be set a group project in one of the modules and this was when I met one of my first new friends. Things got better from then, after a rough first couple of weeks (due to being sick) I began to settle into a rhythm, I became more confident in practicals and really enjoyed some of the lectures I had.

Christmas came and went and I was extremely happy with my exam results. Second half of the year was even better and I made more new friends, I'm happy to be part of a group of friends now and we all sit together in lectures.

I managed to survive a 3 day field course and managed to pass all my exams and now here I am writing this blog.

So what is Treacher Collins Syndrome?

This is the best summary that I have found so far, I have seen it posted on several sites but here is the exact link I got it from:
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002624/

Causes, incidence, and risk factors

Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). More than half of all cases are thought to be due to new gene changes (mutations) because there is no family history of the disease.

This condition may vary in severity from generation to generation and from person to person.

Symptoms

• Outer part of the ears are abnormal or almost completely missing
• Hearing loss
• Very small jaw (micrognathia)
• Very large mouth
• Defect in the lower eyelid (coloboma)
• Scalp hair that reaches to the cheeks
• Cleft palate

Signs and tests

The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:

• Abnormal eye shape
• Flat cheekbones
• Clefts in the face
• Small jaw
• Low-set ears
• Abnormally formed ears
• Abnormal ear canal
• Hearing loss
• Defects in the eye (coloboma that extends into the lower lid)
• Decreased eyelashes on the lower eyelid

Genetic tests can be done to look for mutations in the TCS1 gene.

Treatment

Treatment involves testing for and treating any hearing loss so that a child can perform at a normal level in school. Plastic surgery can treat the receding chin and other defects.

Support Groups

Treacher Collins Foundation -- www.treachercollinsfnd.org

Expectations (prognosis)

Children with this syndrome typically grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school.

Complications

• Feeding difficulty
• Speaking difficulty
• Communication problems
• Vision problems

As stated above it can vary a lot from person to person, for example some people who are more severely affected than myself may need a trach in order to breathe properly. And some of the people who visit this blog may have seen the documentary of Juliana Wetmore known as the girl born without a face who has the most severe TCS I have come across.

What can be done:

• Surgery-obviously depends on the person and the severity but usually it is required in order to fix a cleft palate and other necessary things in order for the child to be able to survive. Can also be cosmetic for example to extend the jaw (also to improve function) or to create better looking ears.
• Hearing aid-as far as I'm aware most people with TCS are at least partially deaf such as myself this is due to a lack of ear canals. Again it depends on the person but the standard set up is a bone conductor hearing aid which transmits sound through vibrations it usually comes on a metal band but I have found a fabric band is much more comfortable. Another option is with a implant-Bone Anchored Hearing Aid, which is said to give better sound quality but requires surgery.
• Speech therapy
• Having great support from family, friends and teachers.

Apologies for the wall of text, this will probably be my longest and most serious posting but a necessary one at that.

Welcome

Hello and welcome to my blog, it has been something that I've wanted to do for a while now and since I now have the time I've decided to jump in. You may be wondering what the title is about, this statistic shows the number of people affected by Treacher Collins Syndrome. I myself am 1 in 50,000. This blog is my way of sharing information about TCS and my own experiences so people can better understand it.

My idea for starting this blog came when looking on the internet, there is a fair amount of information available but any of the personal sites or blogs I found have long been left without being updated. Its also due to the awareness of TCS that has been raised by Jono Lancaster and how I wanted to show that not all people with TCS have had such issues as him.

I will try to be show a balanced view, both positive and negative with some of my own interests thrown in.

I hope you enjoy my blog.

Edit:
I've noticed that some places say 1 in 10,000 and others say 1 in 50,000, its a little bit confusing, I will try and  confirm.