Raili's Rare Diseases

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Lemierre’s syndrome

June 9th, 2010 by ru30

This is a prezi I made on Lemierre’s syndrome!

Click on this link to see it!

http://prezi.com/tqv9lezz2gfm/

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Rare Diseases

May 27th, 2010 by ru30

I have decided to take a break from writing about a single rare disease so I am going to talk about rare diseases in general.

There are so many rare diseases out there new ones are being discovered all the time, right now scientist estimate that there are 5,ooo and 8,000 known rare diseases in the world. Did you know 1 in every 10 Americans has a rare disease, so rare diseases aren’t that rare.

The definition of a rare diseases is that less 5 per 10,000 individuals in a single country have it, so about 150,ooo people in the United States have it. You may think that’s a lot of people but its not because there are over 300,000,000 people in the United States.

It is usually hard to diagnose a rare disease, so many people never know they have on until it’s to late. So if you think you might have one the go to this website and you can read about many rare diseases.

http://rarediseases.about.com/od/typesofdiseases/u/Rare_Diseases_Listing_A_to_Z.htm

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Pulmonary Hypertension

May 21st, 2010 by ru30

Pulmonary hypertension is a extremely rare disorder of the heart. It is usually found in people between the ages of 20 and 40, but has happened in Teenagers before.

The symptoms of this disease can be different in everyone here are the most common symptoms:

• shortness of breath , which is made worse by

aerobic activity

• fatigue

• chest pain

• a feeling of lightheadedness

• fainting, or passing out

• your legs swelling

• a cough that does not go away

• palpitations which are an unusual feeling of a strong or fast heartbeat

• coughing up blood

• a bluish tint to the skin

The cause of this disease is that you have high blood pressure in your pulmonary artery. The pulmonary artery supplies blood to your lungs, so your lungs don’t get enough blood causing you to have trouble breathing and other symptoms of Pulmonary Hypertension. One way that doctors can diagnose you is that they hear a heart murmur.

The treatment of this disease can be different for each person depending on how severe it is. The treatment can be as simple as dietary changes to as hard as surgery. There are also different medications that you can take.

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Fibrodysplasia Ossificans Progressiva

May 6th, 2010 by ru30

Fibrodysplasia Ossificans Progressiva is a very rare bone disorder. That less than seven hundred people in the whole wide world have. But it is so rare people don’t know that much about it, so technicley more people could have it.

The symptoms of this disease can be different depending on the person but these are the most common symptoms: Pain in different bones and muscles, swelling, problem with bone development in the fingers or toes like cluster toes, progressively getting stiffer, and eventually parts of your body just not being able to move some parts of your body.

When you have Fibrodysplasia Ossificans Progressiva your body pretty much just turns your muscles into bone, so eventually you will be frozen for ever because everything is bone. Yes you can die from this disease because your heart and lungs can turn into bone to or you could starve because you jaw gets fused shut. The cause of this disease was just discovered scientists think that a gene called ACVR1 gets mutated causing you body to turn muscle into bone.

Sadly, there is no known treatment or cure for this disease, but since scientists have found the gene that causes Fibrodysplasia Ossificans Progressiva they might eventually find a cure.

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Hirschsprung disease

April 8th, 2010 by ru30

Hirschsprung disease is a very rare disease of the Colen or large intestine. You are born with this disease and you could die from it but if it is not so severe you could live for a very long time. It is a very painful disease that is very hard to diagnose.

There are many different symptoms that can occur depending on how old you get and if it is severe or not. Usually the symptoms occur right after birth but rarely they start later. Now I will tell you the most common Symptoms of Hirschsprung disease. In infants some of the most popular symptoms include: Not passing the first bowel movement 1-2 days after birth, problems having bowel movements, swelling of the abdomen, vomiting, and sometimes rapid breathing. The most common symptoms for older children include: chronic constipation, lack of appetite, poor weight gain, and decreased rate of growth.

The cause of this disease is that there is a blockage in one part of the large intestine. The blockage is caused by a lack of nerve cells in that portion of the intestine Because of the lack of nerve cells the bowl cannot move in that spot causing stuff to get stuck and the rest of your intestine contents to get backed up.

There is no way to prevent this disease and the only treatment is to get that part of intestine removed, the surgery is usually in a two parts. It can be very dangerous but it matters what part of the intestine is infected because if it is right at the end of the intestine it’s not that hard to remove but if it’s somewhere in the middle of the intestine it is really hard to remove. This treatment usually works but the earlier you get diagnosed the better the outcome.

Here’s a link to an article about this disease.

http://health.discovery.com/encyclopedias/illnesses.html?chrome=None&article=2975&page=2

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Malignant infantile Osteopetrosis

April 2nd, 2010 by ru30

Malignant infantile Osteopetrosis is a very rare and very painful disease. It usually happens when you are a baby and the first symptom happen the day you are born. This disease has other names like: Albers-Schonberg Disease, Generalized Congenital Osteosclerosis, Ivory Bones, Marble Bones, Osteosclerosis Fragilis Generalisata.

Some of the Symptoms include: Crying because it hurts so much, lots of fractures, frequent infections, bulging bone in some places, and sometimes blindness, deafness, or strokes.

The cause of this disease is that about every month or so the bone marrow gets rebuilt and the Osteoclasts get rid of the old bone, but when you have Malignant infantile Osteopetrosis the Osteoclasts don’t work causing excess bone marrow to build up.

The only treatment for this disease is a bone marrow transplant, but it is very dangerous because it is being done on very young kids. Most don’t survive the bone marrow transplant.

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Systemic Capillary leak Syndrome

March 25th, 2010 by ru30

Systemic Capillary leak Syndrome is a very very rare disorder. That usually happens in adults. but It is so rare that doctors don’t really know the age range.

The symptoms are not always the same but they usually happen like this. First you usually don’t feel to good like you have the flu, Drowsy, muscle aches, fever, and other flu symptoms. So you probably will be laying down, but when you get up you Faint due to really low blood pressure. Then when you wake up again you will have terrible burning pains ( you will probably be in the hospital now getting fluids though an IV due to low blood pressure). Then you will slowly start to gain water weight, one reason you do is because of the IV fluids. You will eventually lose the weight and you blood pressure will go back up. Finally a couple years later you will have all the same symptoms again. You Will be lucky to be diagnosed.

The cause of this disorder is that your capillary have holes in them and sometimes they leak and sometimes they don’t for an unknown reason. This disease is so rare that only a about 50 people have survived their first attack, but over 1,000 people are thought to have had it.

There is no known cure or treatment or way to prevent it because it is so rare. The only thing you can do is go immediately to the hospital if you think you are having an attack.

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Segawa’s Dystonia

March 10th, 2010 by ru30

Segawa’s Dystonia is a rare movement disorder the symptoms are kind of like the ones that people with cerebral palsy have but unlike cerebral palsy Segawa’s Dystonia can be treated with medication. This disorder affects young kids.

The symptoms of this disease are:

Problems with balance, involuntary movements of muscles, speech delays, rapidly blinking of the eyes, trouble walking, and cramps of the feet or other muscles that it affects. This disorder may only affect 1 muscle or it could affect all your muscles.

The cause of this disease is that the GABA (gamma-aminobutyric acid), a substance that helps your brain maintain muscle control doesn’t work right. So your muscles don’t work very well.

There are many medications for this disorder like diazepam (Valium), lorazepam (Ativan), clonazepam (Klonopin), and baclofen (Lioresal). Also sometimes a poison called Botulinum can be injected into you muscles. It can’t cure this disease but it can Provide temporary relief.

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Hunters and Hurlers Syndrome

March 4th, 2010 by ru30

Hunter’s and Hurler’s Syndrome are both very rare genetic disorders. They are almost the same except for one symptom, that symptom is cataracts. When you have Hurlers syndrome you have cataracts and when you have Hunters syndrome you don’t. Here are the other symptoms:

short stature
joint stiffness
coarse facial features
hearing Impairment
developmental delays
sometimes aggressiveness

The cause of Hunters and Hurlers syndrome are your body lacks an enzyme known as iduronate 2-sulfatase. When this enzyme is missing, sugar molecules collect in and damage body tissues. It is very hard to diagnose one of these diseases because the symptom’s are so close to being the same.

There is no cure for this disease but a Bone marrow graft can help with some of the symptom’s.

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Epidermolysis Bullosa

March 3rd, 2010 by ru30

Epidermolysis Bullosa, or, EB is a rare genetic skin disease that most people have never heard of but almost 100,000 have it. People who have this have to were bandages because there skin is so sensitive and fragile. If someone with EB got a bad cut or bad burn it might never heal. Also the slightest blister can cause the skin to break down.

The cause of this disease is that the skin can’t produce a glue like material called collagen-7. Collagen-7 binds the skin together so it doesn’t break.

Kids with EB usually live pretty short lives because it is so easy to get infected very easily. Also they are always in pain and they are rapped in bandages all the time.

This is a 12 year old boy named Garret who has the disease EB.