Hey have you guys ever heard of a rare lysosomal storage disease called mps 6? Well it is very rare and only about 4 in a million people have it. It starts out with storage of complex sugars in the joints of the body. As you get older your stature would be shorter than average. Your fingers start to curve and it can cause compression of the spinal cord. Eventually if untreated it leads to death. It is caused by the lack of an enzyme that breaks down complex sugar chains in the body. Currently today there is a replacement therapy that involves an infusion lasting around 4 hours. It does not cure it, instead it hopefully slows down the process of sugar storage if not halting it completely. This treatment currently would require treatment once a week for life. There is more than one type of Mps and not all have treatment options. These genetic storage diseases cause disability to walk, hear, see, and many more normal day activity.
Do you think that the United States/ the world puts enough money to researching cures for genetic diseases that basically end in death or a completely altered life style? Also do you think that modern day schools and other establishments do enough to accommodate these people in need? Do you know of any other rare diseases like these? If you do you should post them here!

Here is the link to the Mps society website if you wish to learn more.
Mpssociety website

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i have heard of this genetic disease. one disease that is commonly known but not known as genetc is autism

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Diseases like that and many, many, others are very fatal. It's amazing how kids manage to live with that. I don't think I would ever be able to make it. Those are some pretty strong kids out there, no matter what they have. Another really rare disease is Menkes Disease.
http://www.rarediseases.org/search/rdbdeta...enkes%20Disease

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The diseases which have a low prevalence in the population, generally called rare disease. According to National Institutes of Health (NIH) rare disease are those disease that affects less than 2,00,000 people in the population of US. As MPS 6 affects less than 2,00,000 people in the population of US, so National Institutes of Health listed it as a rare disease.

The full name of MPS 6 is “Mucopolysaccharidosis type 6”. It is an inherited biochemical disorder. This disorder is characterized by the accumulation of mucopolysaccharides in various body tissues. In this disorder

There are many symptoms are listed for MPS 6, but the main symptoms may be considered as Hip dysplasia, Growth retardation (Poor growth), Short stature, Skeletal deformities, Valvular heart disease etc. There are few occasional symptoms too, like Cervical myopathy, Enlarged tongue, Glaucoma, Hearing impairment, Hydrocephalus, Large head, Thickening of cervical dura matter etc.

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That is very interesting! I had not heard of that disability.

I learned about two genetic disorders that occur due to a problem during meiosis, which is the division of a diploid cell which produces four haploid cells. These cells are what become the sex cells (egg and sperm) that create a person. There are two parts: meiosis I and meiosis II. During each part, chromosomes separate and are pulled to opposite ends of the cell. If this happens correctly, it is called disjunction, but if they do not separate and are pulled together to one end of the cell, it is called nondisjunction.

Down syndrome is characterized by features such as a broad face, narrow, up slanting eyes, and a large tongue. It leads to retardation and often disorders of the heart and gastrointestinal tract. It occurs when a person has an extra 21st chromosome; therefore, it is also called Trisomy 21. There is a critical region on this chromosome, and when it is present in three more copies, it results in the phenotype for Down syndrome. This usually happens due to nondisjunction during meiosis. More than 95% of these division errors are maternal, and most of them occur in older women and during meiosis I. Most of the paternal errors occur during meiosis II, and age has little effect.

Edwards syndrome is another genetic disorder that arises when there is an extra copy of a chromosome. It occurs when there are three copies of chromosome 18 and is also called Trisomy 18. It is the second most common genetic disorder in humans after Down syndrome. Like Down syndrome, it causes mental retardation, but children with Edwards syndrome die early and rarely live more than one year. This syndrome is characterized by low set ears, deformed fingers, narrow nose, a receding jaw, and various heart defects. These defects include Ventricular Septal Defect in which there is a hole between the lower chambers of the heart which prevents the heart from pumping blood correctly, Atrial Septal Defect in which there is a hole between the two upper chambers of the heart which makes it difficult for the heart to pump sufficient oxygen-rich blood to the body’s tissues, and Patent Ductus Arteriosus in which closure of a duct fails to occur, resulting in abnormal direction of blood flow.

 

 

 

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