ArtsAutosBooksBusinessEducationEntertainmentFamilyFashionFoodGamesGenderHealthHolidaysHomeHubPagesPersonal FinancePetsPoliticsReligionSportsTechnologyTravel

5 Rare and Devastating Diseases

Updated on April 11, 2012
Child with Fibrodysplasia Ossificans Progressiva
Child with Fibrodysplasia Ossificans Progressiva | Source
Young child with Hutchinson-Gilford Progeria Syndrome
Young child with Hutchinson-Gilford Progeria Syndrome | Source

There are a variety of rare diseases that exist in the world. Because so few people are affected with some of these afflictions, little may be known about them. This is also why many rare diseases have no cure and limited or no treatment available.

The following are a few of the more devastating rare diseases that have been discovered.

Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva (FOP) is an incurable condition that turns muscle into bone and eventually leaves victims unable to move, as if frozen in their bodies. Ultimately, those with this disease will often die from the internal organs being crushed as a result of the extra bone growth.

Children who are born with FOP have deformed great toes. The lumps on the body that are caused by the bone growth can be mistaken for cancer or fibrosis and leads doctors to perform biopsies or surgeries on the affected areas. However, this only quickens the progression of the disease, as any trauma will lead to more bone growth and immobilization of the affected area.

Familial Fatal Insomnnia

Familial Fatal Insomnia is an extremely rare condition that is almost always caused by a mutation that is inherited from one or both parents. It leads to progressively worsening insomnia that is untreatable and causes hallucinations, severe sweating, and delirium. Eventually, the brain will shut down, and the victim will enter into a coma and die.

The average survival span after the onset of symptoms is 18 months. Only 40 families in the world are known to carry the gene for FFI.

Hutchinson-Gilford Progeria Syndrome

Progeria, which is also known as Hutchinson-Gilford Progeria Syndrome, is a very rare genetic disorder that causes children to age rapidly. Signs of the condition, such as hair loss and slow growth, can begin to appear at the age of 12 months. Children with Progeria have a distinctive appearance, including a small face and jaw, a pinched nose, and a very small stature.

Afflictions that usually affect the elderly will also appear as children age, including atherosclerosis, hip dislocations, loss of eyesight, heart problems, and kidney failure. It is usually the cardiovascular issues that eventually lead to death. The average life expectancy for children with Progeria is 13, though some have been known to live beyond 20.

Though there is currently no known cure for Progeria, there has been some promise for a potential treatment being discovered as research on the disease progresses.

Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis, also known as Lou Gehrig's Disease or ALS, is an incurable neuromuscular disease that attacks nerve cells in the brain and spinal cord. As a result, progressive muscle weakness occurs.

The first signs of ALS can include stiffness, twitching, slurred speech, and muscle weakness that usually begins in the hands and feet. As the diseases progresses, the ability to speak, swallow, and breath will also become affected, and paralysis will eventually ensue. It is usually respiratory failure or pneumonia that ultimately leads to death.

Most who develop ALS are between the ages of 40 and 70. The average survival span after the onset of symptoms is three to five years. While there is currently no known cure, a new drug known as Rilutek has been created that can help slow down the progression of the disease.

Tay-Sachs Disease

Tay-Sach's Disease occurs when the body lacks a specific protein that aids in breaking down a a chemical found in nerve tissue known as gangliosides. It is caused by a genetic mutation on chromosome 15. The disease most often occurs in infancy, and symptoms usually begin to appear at 3 to 10 months.

Those with the disease will experience symptoms that include irritability, slow growth, muscle weakness, seizures, blindness, dementia, and paralysis. The deterioration of physical and mental abilities will progress rapidly and usually death with occur before the age of four.

Tay-Sach's Disease most often occurs among Ashkenazi Jews. In order for a child to develop the disease, both parents must pass on the defective gene. If the child receives the gene from only one parent, he or she becomes a carrier, which means that the child doesn't develop the disease but can pass it along to his or her children.

Currently, there is no known cure for Tay-Sach's.


Comments

    0 of 8192 characters used
    Post Comment
    • conradofontanilla profile image

      conradofontanilla 

      8 years ago from Philippines

      ALS and progeria are caused by free radicals. AlS can be treated by chelation therapy to reduce population of free radicals and by stem cell to rebuild nerves and muscles. Progeria can be treated by glutathione peroxidase to reduce the population of hydrogen peroxide that is produced by superoxide. A fellow afflicted with progeria has no built-in antioxidants like superoxide dismutase and glutathione peroxidase.

    • jennzie profile imageAUTHOR

      Jenn 

      8 years ago from Pennsylvania

      Thanks for commenting EuroNinila! Yes, these are terrible diseases.

    • EuroNinila profile image

      Fotinoula Gypsyy 

      8 years ago from NYC BABY

      Very interesting to read about these diseases, I didn't know about most of them. Very sad, though.

    working

    This website uses cookies

    As a user in the EEA, your approval is needed on a few things. To provide a better website experience, hubpages.com uses cookies (and other similar technologies) and may collect, process, and share personal data. Please choose which areas of our service you consent to our doing so.

    For more information on managing or withdrawing consents and how we handle data, visit our Privacy Policy at: https://maven.io/company/pages/privacy

    Show Details
    Necessary
    HubPages Device IDThis is used to identify particular browsers or devices when the access the service, and is used for security reasons.
    LoginThis is necessary to sign in to the HubPages Service.
    Google RecaptchaThis is used to prevent bots and spam. (Privacy Policy)
    AkismetThis is used to detect comment spam. (Privacy Policy)
    HubPages Google AnalyticsThis is used to provide data on traffic to our website, all personally identifyable data is anonymized. (Privacy Policy)
    HubPages Traffic PixelThis is used to collect data on traffic to articles and other pages on our site. Unless you are signed in to a HubPages account, all personally identifiable information is anonymized.
    Amazon Web ServicesThis is a cloud services platform that we used to host our service. (Privacy Policy)
    CloudflareThis is a cloud CDN service that we use to efficiently deliver files required for our service to operate such as javascript, cascading style sheets, images, and videos. (Privacy Policy)
    Google Hosted LibrariesJavascript software libraries such as jQuery are loaded at endpoints on the googleapis.com or gstatic.com domains, for performance and efficiency reasons. (Privacy Policy)
    Features
    Google Custom SearchThis is feature allows you to search the site. (Privacy Policy)
    Google MapsSome articles have Google Maps embedded in them. (Privacy Policy)
    Google ChartsThis is used to display charts and graphs on articles and the author center. (Privacy Policy)
    Google AdSense Host APIThis service allows you to sign up for or associate a Google AdSense account with HubPages, so that you can earn money from ads on your articles. No data is shared unless you engage with this feature. (Privacy Policy)
    Google YouTubeSome articles have YouTube videos embedded in them. (Privacy Policy)
    VimeoSome articles have Vimeo videos embedded in them. (Privacy Policy)
    PaypalThis is used for a registered author who enrolls in the HubPages Earnings program and requests to be paid via PayPal. No data is shared with Paypal unless you engage with this feature. (Privacy Policy)
    Facebook LoginYou can use this to streamline signing up for, or signing in to your Hubpages account. No data is shared with Facebook unless you engage with this feature. (Privacy Policy)
    MavenThis supports the Maven widget and search functionality. (Privacy Policy)
    Marketing
    Google AdSenseThis is an ad network. (Privacy Policy)
    Google DoubleClickGoogle provides ad serving technology and runs an ad network. (Privacy Policy)
    Index ExchangeThis is an ad network. (Privacy Policy)
    SovrnThis is an ad network. (Privacy Policy)
    Facebook AdsThis is an ad network. (Privacy Policy)
    Amazon Unified Ad MarketplaceThis is an ad network. (Privacy Policy)
    AppNexusThis is an ad network. (Privacy Policy)
    OpenxThis is an ad network. (Privacy Policy)
    Rubicon ProjectThis is an ad network. (Privacy Policy)
    TripleLiftThis is an ad network. (Privacy Policy)
    Say MediaWe partner with Say Media to deliver ad campaigns on our sites. (Privacy Policy)
    Remarketing PixelsWe may use remarketing pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to advertise the HubPages Service to people that have visited our sites.
    Conversion Tracking PixelsWe may use conversion tracking pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to identify when an advertisement has successfully resulted in the desired action, such as signing up for the HubPages Service or publishing an article on the HubPages Service.
    Statistics
    Author Google AnalyticsThis is used to provide traffic data and reports to the authors of articles on the HubPages Service. (Privacy Policy)
    ComscoreComScore is a media measurement and analytics company providing marketing data and analytics to enterprises, media and advertising agencies, and publishers. Non-consent will result in ComScore only processing obfuscated personal data. (Privacy Policy)
    Amazon Tracking PixelSome articles display amazon products as part of the Amazon Affiliate program, this pixel provides traffic statistics for those products (Privacy Policy)
    ClickscoThis is a data management platform studying reader behavior (Privacy Policy)