• 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.