genetic dieases and disorders

Question 1

What is cystic fibrosis

Answer 1

sticky mucus in body due to lack of dalt and water movement . Also because of a faulty recessive gene

Question 2

What are the PIES to cystic fibrosis

Answer 2

P- Slowly erodes lungs, infection,short in breath , fatty diet, infertile
I- miss out on school/work,lack of concentration , fiances
E- anxiety, burden, angry , grateful
S- Never meet up with another person with it
travel and friendships

Question 3

What is brittle bone diease

Answer 3

Bones break very easily as there is no protetin.
it can be inherited or devloped through genetic mutation

Question 4

What are the PIES to brittle bone diease

Answer 4

P- many surgries, hard to move, lack of moblity, pain mangement
i- hard with speech , have to go to private school , dealys and lack of indepednace
e- low self esteem,. bullied
s- no phyiscal activites, lack of independance

Question 5

What is sickle cell anaemia

Answer 5

cresent shaped blood cells which if they get stuck in the viens you can go into a crisis. It will also be harder for them to repair so oxygen levels are quite low

Question 6

what ethnicty is more likely to have sickle cell anaemia

Answer 6

African/Caribean people

Question 7

What are the PIES to sickle cell anaemia

Answer 7

P- cant walk, tired, dehydrated , balanced diet, need a lot of painkillers
i- lots of time off of school, diffulcutly with careers , fiance issues
e- stress , low self esteem , frustation
s - goes to local healthcare centre , physical activites

Question 8

What is PKU

Answer 8

cannot break down an animno acid which is found in meat and dairy if they do eat it they will damage their brain devlopment

Question 9

What are the PIES to PKU

Answer 9

P- need to have sutiable diet , damage to nervous system , causes rashes , blood level group different
i- causes brain damage
e- have to be self aware , frustration , mood swings , mental health issues and behavioural issues
S- friendship issues

Question 10

What is Huntingtons diease

Answer 10

Neurolgical disorder which causes damage to nerve cells in brain. The sumtpoms start in the 40’s

Question 11

What is Huntingtons diease

Answer 11

Neurolgical disorder which causes damage to nerve cells in brain. The sumtpoms start in the 40’s

Question 12

What are the PIES to Huntingtons diease

Answer 12

P- muscule cordiantion loss , loss of balance , immobile , damage to pain receptors , innability to swallow in the end
i- brain damage , speech impariment, loss of independance
e- mental health decline , counselling , anxiety
s- loss of friends , social isolation

Question 13

What is klinrfetters syndrome

Answer 13

female like charcetrics due to an extra x chromsone

Question 14

What are the PIES to klinefetters syndrome

Answer 14

P- breasts devlopment, high sex drive , cant produce testrone
i- lack of concentration, time of work
e- angry,very emotional, hormonal influence , low self esteem , stress
s- realtionship issues , social isolation , loss of friends

Question 15

What is down syndrome

Answer 15

inhertit an extra chromosone

Question 16

what are the PIES to down syndrome

Answer 16

P- excess skin and high check bones , heart deflec ts
i- learning diffculties , speech impariments , support with independance
e- bullying, very affectionate, low self esteem
s- social isolation

Question 17

What is colour blindness

Answer 17

You cannot see any colour. Life is black and white and it is more common in mean

Question 18

What is duchenne muscular dystrophy

Answer 18

genetic disorder that causes muscule weakness and is more likely in noys

Question 19

What are the PIES to Duchenne Muscular dystophy

Answer 19

P- muscule deterritoation , limited strength, poor balance , low life exeoencatncy
i- delays in milestones, lack of independance
e- low self esteem , frustration
s- friendship issues, isolated