Rare genetics diseases

I would like to present you some of rare genetics diseases. I dedicate my post to all people who suffers from them. We should not be afraid of these people and treat them with the same respect and kindness as everybody else.
I will quickly explain what is the reason of the illness. Let's also take a look at the symptoms. Hope you will like my article :). Don't forget about upvoting and following my blog. I would love to read your comments, please don't disappoint me ;)

1.Albinism.

Albinism is a disorder which is presented by complete or partial lack of pigment in the skin, eyes and hair.
People are also more sensitive to the light (photophopia).
"Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans."- It means that both parents had to transfer genes for a baby to create this sickness.
There is no cure for albinism. It is very important to avoid sunburn and have a skin checked from time to time by a dermatologist.

2.Duchenne muscular dystrophy.

First symptoms of muscle weakness is observed at age 4 in boys. Most of them are unable to walk at the age of 12.
People who suffers from this disease live about 25 years and die from respiratory failure or cardiac arrest (their muscles are just to weak to provide appropriate movement for the respiratory muscles, diaphragm).
Duchenne muscular dystrophy affects one in 5000 males at birth. We still don't know the cure for this disease.
It's important to mantain physical therapy because it can help with some of the symptoms.

3.Patau syndrome.

The reason of this syndrome is chromosomal abnormality which is connected with additional genetic material from chromosome 13. The symptoms involve:
-microcephaly (brain does not develop properly resulting in a smaller than normal head)
-polydactyly

-cyclopia
-abnormal genitalia, kidney defects
-heart defects
And much more. 80% of children with Patau syndrome die in the first year of life. The treatment is an individual matter for every patient.

4.Fatal familial insomnia.

It's a prion disease of the brain. FFI has no known cure.
The symptoms are:
-progressively worsening insomnia, which leads to hallucinations
-delirium
-confusional states like that of dementia
FFI leads to death after 18 months after first symptoms of this disease.
Fatal familial insomnia has been found in just 40 families worldwide!

5.Ondine's curse.

This mysterious name describes central hypoventilation syndrome (CHS). It's a respiratory disorder that can lead to respiratory arrest during sleep. Other symptoms are: darkening of skin color from inadequate amounts of oxygen, drowsiness, fatigue, headaches and an inability to sleep at night.

Ondine curse is an allusion to the story of Ondine and Hans.
As wikipedia says:" Ondine tells her future husband Hans, whom she had just met, that "I shall be the shoes of your feet ... I shall be the breath of your lungs".

Ondine makes a pact with her uncle the King of the Ondines that if Hans ever deceives her he will die. After their honeymoon, Hans is reunited with his first love Princess Bertha and Ondine leaves Hans only to be captured by a fisherman six months later.

On meeting Ondine again on the day of his wedding to Bertha, Hans tells her that "all the things my body once did by itself, it does now only by special order ... A single moment of inattention and I forget to breathe". Hans and Ondine kiss, after which he dies."

In 2008 Ondine's curse has been found in just 1000 cases worldwide.

If you would like to read more about these diseases please take a look at my sources.
Sources and pictures:
https://globalgenes.org/rarelist/
https://www.genome.gov/10001204/specific-genetic-disorders/
https://en.wikipedia.org/wiki/Albinism
http://www.nadziejawgenach.pl/choroby_rzadkie/46-Dystrofia_miesniowa_Duchenne%E2%80%99a.html
https://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy
https://en.wikipedia.org/wiki/Patau_syndrome
https://en.wikipedia.org/wiki/Fatal_familial_insomnia
https://en.wikipedia.org/wiki/Central_hypoventilation_syndrome#History_and_etymology