charge syndrome part one

hello welcome to Jo life, I would like to talk about…… Charge Syndrome, Sure you all be wounding what it is lol….. that why I am here… For few day I have been talking with my mother, And typing about Charge Syndrome. Because it’s long story about it and I wanted make sure I got the information right, As it is Important to get the point and made sense for you all. ……….Charge Syndrome…….. Is quite rare diseases not many people know what it is, Ever today doctors and nurses still don’t know what it is too… That why I wanted to spread the awareness ……about that…. “Charge” Was first discovered 38 year ago today by group of specialist doctor in USA …….When…. 1979…… That why some people don’t realise that themselves have Charge Syndrome in their early “40”, Also children may not be diagnosed until later in their childhood. Which I was 3 day old when my mother found out that I have Charge Syndrome ……by….. American doctor who was working at GOSH what is it…. Great Ormond Street Hospital “Why” it’s called Charge? Because every person with Charge Syndrome… have symptoms which are common as those letter are the start of the main symptoms. …… So when a child born with Charge as doctor look for common symptoms which they matched with those letter, That how a child are diagnosed with Charge Syndrome Erm…don’t it make a sense?… Hey don’t worry as there more explanation just try your best to keep it up lol [C} Is for Coloboma… That is a eye problems with retina back of eye did not develop probably when the baby was in the worm. Also have keyhole in either one or both of eye, But not every person with coloboma are exactly same… As some don’t have it at all, Where they have different levels of vision loss like from fully to small blindness in one eye or both of eye. Also some can be sensitive to bright light, … But… what i mean is mostly of them are sensitive to outside natural light not inside house light… But I might be wrong as some might be sensitive to house light.. For me… I am blind in my right eye but it got very tiny vision but it just not clean at all, It quite blurry which I only see very tiny but I don’t rely on it. I used to see well with my left eye but few year ago somehow unexpected lost vision in my top left of my left eye for no reason, But I was told that it was nothing to do with Charge Syndrome. Also I am short sighted but I used to not needed my glasses all the time until 4/5 year ago, maybe it’s because I am getting old hahah. [H] Is for Heart Disease Different type of Heart problems as not every person have exactly same problem, Also some don’t have it at all For me I was born with large hole but it has been fixed, Also I have some Leakage of the Pulmonary Valve. [A] Is for Atresia of the Choane, Where one or both of the opening back of nose…. Are blocked by the bone or tissue, some are lucky to not be born with it. For me my both nose was blocked by bone! and I had few operations to open the airway. so I am alright now… [R] Is for Retarded Growth and/or Development. Some child are born with missing Pituitary Gland, where there no hormones and some cant control their temperature, Which they needed a hormones tablet to produce. Also some are late development like… learning how to walk… speaking….. how… to play and using their toy… For me I don’t produce hormones naturally which I have to take tablet for that to help me… Also I have no Pituitary Gland which is harder for me to control my temperature. Erm…what do I mean by cant control their temperature hold on I try my best to explain, For normal people who have Pituitary ……………. Gland. So when it is cold they can.. warm up quick with warm clothes,, And.. like when it is hot they can cool down quick with cool clothes. Who have missing Gland they cant warm up quicker or cool down quicker, So.. it’s harder. Also when normal people go for ran they get hotter but when they stop they cool down nicely, But for me if I go for walk fast I get very hot and sweating, then when I stop to cool down then my temperature drop quickly which I get cold easily…. whoa….. And wasn’t nice feeling. Also I get hot quickly which I was like whoa okay lol… So it don’t go like a stable rhythm but sometime it’s okay. I am only one in my family who are small which I am 4 feet 10 inches…. Okay sorry if I sound offensive at what I am going to talk about now, Be bare with me as I am trying to make a sense… of that because sometime I find bit hard to explain when something is hard to put forward, As it’s take me a while to think about…. to find right word lol Without causing any misunderstood or upsetting someone.. I don’t have severe disability learning difficulty but I have delay learning difficulties where I was slow at learning….. and understanding like… with school work. Erm what am I trying to say is.. when I was growing up I was stuck in between normal, and moderate to severe learning difficulties children As when I was in high school for few month I was going back and forth between two different group, As teacher was trying to find right class for me. When I was In learning difficulties group I found school work so easy for me, And when I finish the course work I had to wait for other to finish… So I try normal class who are just deaf it’s just the ear that aren’t working but the rest are fine, ‘just a ear problems’…. Anyway I kinda snuggles in that class because I found it bit hard to keep it up with them as I was slow lol, At the end teacher decided to leave me with normal group with the help at the end of classes after school. ….But…. of course my grade was low anyway lol. When I got into my twenty I notice that I have seem catch up at ‘understanding’ and English, that has improved over year since from college, So I guess what you need to know is I do have learning difficulties but it is like delay …. Ever teacher couldn’t understand, As it’s really just depends on the situation that I am learning about. So I am saying that I can learn, it just takes me a while,,,, for example if I type ‘English’ in letter or whatever it’s will take me about 4 hour to get English right but not 100% prefect of course lol, just right for people to able to understand me… And with the exams at school you have to be quick that why I struggle, because we had to be quick which I couldn’t do as it takes me ‘longer’. [G] Is for Genital Hypoplasia it’s for male where their private area can be small…. but not all of them just some are. Also woman too but its very rare as it is mostly are Male [E] Is for….. Ear Anomalies and?/or deafness. Where some people have different shape of ear where it’s can be small/wide or floppy.. aAso different level of deafness. I never met anyone with Charge Syndrome who are hearing, so it seem like to me that people who have Charge Syndrome are either Hard of Hearing or Deaf. … But I may be wrong…… so let me know if you know somebody out there who have Charge Syndrome are hearing, let me know as I would like to know… For me I am Profound Deaf in my both ear, Also my right ear are a little bit floppy… And also i have no Semi Circular Canals [ The part of the ear that helps us to balance ] So it’s harder for me to learn how to walk and balance, My brain has to use, what they call compensated balance, that mean using the rest of your body to balance as it doesn’t happened naturally, I had to teach myself how to balance by using rest of my body. That all of the main symptoms that doctor are looking for to match with those letter, to confirm that the child have Charge Syndrome. …. But… there a extra symptoms are linked too which will be in part two….. Thank you so much for watching this video and I hope you enjoyed it, Please comment if you need me to clarify at something linked to that video.. okay… See you in part two bye.

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