10 Genetic Conditions You Might Have But Not Know It


• Why is a disorder that causes uncontrollable
bleeding known as “Christmas Disease?” What genetic disorder can exist in both men
and women, but two-thirds of the women with it show no symptoms? Here are 10 serious inherited genetic conditions
– some of which you may not know about until you’re in your 30s. 10 –Tay-Sachs Disease
• Good news! If you’re watching this right now, you almost
definitely do NOT have Tay-Sachs disease! • Because if you DID have Tay-Sachs disease,
you would have most likely had it from birth. And then you would most likely have died before
you were old enough to open a Youtube video. • Tay-Sachs disease is a serious disorder
that destroys neurons in your brain and spinal cord. It affects motor skills first, preventing
babies from turning over or crawling. • Later, it can cause seizures, vision and
hearing loss, and paralysis. • Most infants with Tay-Sachs disease only
live into early childhood. But some rare forms can develop later in life,
with much less severe symptoms.So maybe you can have it and still be watching this. But hopefully you don’t. 9 –Usher Syndrome
• Usher syndrome is a hereditary disease that affects your vision, hearing and balance. It is present in about 3 to 6 percent of all
children with hearing or vision loss. • Most children with Usher syndrome will
be completely or mostly deaf from birth, as a result of abnormalities in the inner ear. • Those abnormalities also affect the part
of the inner ear responsible for balance. • Usher syndrome has a less-severe but still
notable affect on vision as well, causing night blindness and progressively worse tunnel
vision with age. • Usher syndrome is a genetic disorder,
but it’s a hidden one – parents can be carriers for the disorder without actually
having it themselves. 8 –Huntington’s Disease
• Like Tay-Sachs disease, Huntington’s Disease attacks the neurons in the brain. • But it’s far from the same disease. For starters, Huntington’s Disease most
commonly sets in well into adulthood, often in the 30s and 40s. • And where Tay-Sachs attacks motor functions
and physical abilities, Huntington’s hits those and also brings cognitive and psychiatric
disorders. • Depression, insomnia, lack of focus, reckless
impulsiveness, learning disorders and difficulty processing thoughts or words. • Bipolar disorder and obsessive-compulsive
disorder are also closely-related to Huntington’s disease. 7 –Sickle Celldisease
• Sickle Cell disease is a mutation of red blood cells, in which they take on a crescent
or “sickle” shape, instead of the usual round shape. • This results in the red blood cells not
being able to carry enough oxygen, or getting stuck in narrow blood vessels because of their
shape. Sickle cells generally only live 10 to 20
days, as compared to 90 to 120 days for regular blood cells. • As a result, the body tends to destroy
red blood cells faster than it can make new ones, resulting in anemia, and potentially
leading to stroke, swelling, and vision problems. • This is a hereditary condition that tends
to primary affect people of color. But thanks to advances in diagnosis and treatments,
the average lifespan of someone with sickle cell disease has increased from about 14 years
old in 1973, to about 60 years old today. 6 –Hemophilia
• A form of hemophilia, specifically hemophilia B, is also known as Christmas Disease. • And what does Christmas Disease do? Why, it makes you bleed uncontrollably, and
sometimes for no reason at all! • Merry Christmas! • Actually, the disease is named for Stephen
Christmas, the first man diagnosed with the disease in 1952, and it occurs when the body
produces little or none of the materials your blood needs to clot properly. 5 –Marfan Syndrome
• Marfan syndrome is a condition with no cure, but it can be managed, and most people
with it go on to lead normal, healthy lives. • Marfan syndrome is a disorder that affects
the body’s connective tissue, causing it to overproduce certain types of proteins. This causes a number of different effects
in the body, including a lengthening of many of the bodies’ joints. • This can result in people having unusually
long, slender arms and legs, being unusually tall, or even having problems with speaking
or vision due to a misshapen facial structure. • About 3 out of 4 people with Marfan syndrome
inherit it from their parents, but it is possible to be born with it spontaneously. It’s a condition that always begins at birth,
but usually the symptoms of it don’t appear for years. 4 –Color blindness
• Color blindness is a genetic disorder particularly common to people with Northern
European ancestry. • And specifically, it’s far more common
in men. In fact, among men with Northern European
heritage, as many as 8 percent have red-green color blindness, compared to only point-5
percent of women. • That’s because the genes responsible
for inherited color-blindness are in the X-chromosome. Men have only one X chromosome, so if it contains
the faulty genes, the colorblindness will set in. • However, women have two X chromosomes,
and for them to inherit color blindness, BOTH would need to contain the faulty genes. If the faulty gene is only present in one
of those X chromosomes, the other, normal one will compensate for the deficiency. 3 –Fragile X Syndrome
• Fragile X syndrome is another chromosomal disorder, and it’s a rather literal name. • It occurs when the x chromosome is, literally,
fragile. The X has a point towards the end that is
deformed, leading to moderate intellectual disabilities, including features on the autism
spectrum. • Like colorblindness, it affects mostly
men. In fact, only about one-third of women with
Fragile X experience any symptoms from it at all, compared to almost every man. 2 –Cystic Fibrosis
• At one point, cystic fibrosis was a fatal childhood illness. It’s a condition that causes increasingly
severe damage to the respiratory and digestive systems. • Because the condition causes the body
to create a thick, sticky mucus, it creates problems with breathing, blocking the airwaves. • It later builds up in the lungs and pancreas,
and can even cause blockages in the intestines. • But screening for cystic fibrosis in newborns
is now a standard practice, and early detection has drastically improved treatment and life
expectancy. • Rather than dying as teens, some people
born with cystic fibrosis can now live into their 40s and 50s.
1 -Phenylketonuria • Like cystic fibrosis, signs of phenylketonuria,
or PKU, are screened for in newborns. • And while it is a chronic condition that
can’t be cured, it can be managed to the point where major health complications can
be prevented. • The condition causes certain amino acids
in the blood to not break down properly, and they can build up to toxic levels if not managed
properly. • This can lead to intellectual disabilities,
psychiatric disorders, delayed physical development, and an abnormally small head. • People with PKU have to manage it their
entire lives, largely through a diet with very little protein. Proteins are what cause the amino acids to
build.

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