Today I will be talking about a chromosome disorder which I have called 22q11.2 deletion (22q), also known as DiGeorge syndrome. Not many people have heard of this disorder before so that is why I am making this blog to let everyone know what it is all about!
So, if you haven’t heard of 22q, as previously mentioned it goes by the name DiGeorge Syndrome which you may or may not have heard of, but if you haven’t heard about it before you came to the right person!
22q occurs when part of a chromosome is missing, nothing was done to cause it, sometimes these things just happen. Some people have this disorder have it a lot worse than I do, and others grow up not even realising they have it, this is because it is a spectrum disorder.
Here are the list of symptoms other people could have (according to the NHS 2017):
· Learning and behaviour problems
· Speech and hearing problems
· Mouth and feeding problems
· Heart problems
· Hormone problems
· Weaker immune system
· Bone, muscle and joint problems/weak muscle tone
· Being shorter than average
· Mental health problems
Here are the list of symptoms I have:
· Learning problems
· A missing kidney
· An extra finger (which I had removed at 8 months old)
· Speech problems (when I was younger)
· Hormone problems (hypothyroidism)
· Weak immune system
· Weak muscle tone
· Minor mental health problems
I will be going into more depth in the future about the science behind 22q as well as how it affects me and my family. Through making this blog with help from my older sister Amy, I really hope to spread more awareness about this disorder that (at least) 1 in 2,000 people have, making it “The most common syndrome you have never heard of” (The Independent, 2017)
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