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Scientists replace the skin of a "butterfly child" 1:11
(CNN Spanish) - Being diagnosed with a chronic disease, whatever it is, is already difficult. But, imagine visiting countless times for months or even years to doctors who can't find what happens with you. And then, in the end, being diagnosed with a disease that very few people have heard of.
Such are rare diseases, also known as orphan diseases, are health conditions that affect, in the United States, less than 200,000 people. In Europe, these types of diseases qualify as such when they affect one person per 2,000. While they are rare diseases, some of these may be "rare in one region, but common in another," according to the European database on rare diseases, Orphanet.
In honor of the Day of rare diseases, which is celebrated on the last day of February every year, we tell you some information about these diseases.
- Jessica Ramírez, the young Colombian with 'butterfly skin' dies
How many types of rare diseases are there?
There are approximately 7,000 rare diseases identified, according to the Center for Information on Genetic and Rare Diseases (GARD). And worldwide it is estimated that about 300 million people live with this type of disease.
Although each disease can affect very few people, the truth is that they occur worldwide and together “the number of people directly affected is equivalent to the population of the third largest country in the world,” and these affect , 5% to 5.9% of the world's population, according to the Rare Disease Day page, which has been celebrated since 2008.
Why do they occur?
The vast majority of these diseases (72%) are genetic, but others can be caused by bacterial infections or viruses, also by allergies, or are degenerative. And 70% of these genetic diseases start in childhood, according to the International Rare Disease Day page.
Orphan diseases have a wide variety of disorders and symptoms, which vary not only from one condition to another, but can also vary between patients who have the same disease.
The difficulty of this type of diseases is, among others, its treatment, because of the almost 7,000 diseases that exist, 90% have no treatment approved by the Food and Drug Administration (FDA) of the United States. And in many cases there are erroneous treatments so the treatment can be delayed.
In addition, "the quality of life of patients is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative and often life-threatening aspects of the disease," according to experts of the International Day of Rare Diseases.
- He was bedridden for 11 years. He invented a surgery and was cured
The most prevalent
According to information from the National Organization of Rare Diseases of the United States, these are some of the most prevalent rare diseases:
Narcolepsy
Narcolepsy is a debilitating disorder, marked by excessive daytime sleepiness. It affects approximately one in 2,000 people in the United States and around the world, but the numbers could be higher. Research suggests that it is often misdiagnosed because doctors confuse their symptoms of depression or insomnia.
Typical patients begin to show symptoms of narcolepsy when they are teenagers or are 20 years old, although Russell Rosenberg, executive director of the School of Sleep Medicine in Atlanta, has seen patients up to two years old.
Along with excessive daytime sleepiness, people with narcolepsy usually have sleep attacks or involuntary sleep episodes. These attacks can come even when patients do something they enjoy, such as spending time with friends. Children can fall asleep in the middle of an activity at school, even if they are involved in it.
Approximately half of people with narcolepsy also have cataplexy, which causes them to lose muscle control when they feel strong emotions, such as when they are laughing, are surprised or angry. Your facial muscles may fall or fall. "This can be embarrassing (and) people try to mitigate their emotions," according to Rosenberg.
Sleep disorder can have serious consequences. One study found that people with narcolepsy are approximately 50% more at risk of dying in a period of three years than those without sleep disorder, and this is probably due to car and other accidents, Rosenberg said.
The inability to stay awake can have a great emotional impact. People with narcolepsy are more likely to have depression, and possibly more likely to have suicidal thoughts.
Primary biliary cholangitis
Primary biliary cholangitis is a chronic liver disease. It is characterized by inflammation of the bile ducts that causes scarring, narrowing of the bile ducts and accumulation of bile in the liver, according to the Rare and Genetic Diseases Information Center (GARD) of the US Department of Health and Human Services. ..
"As the condition worsens, it can cause jaundice, enlargement of the spleen and, finally, liver cirrhosis and liver failure". It can also cause weight loss, vitamin deficiency and osteoporosis.
The causes of this disease are not clear, but being considered an autoimmune disease, it means that the person's immune system attacks, by mistake, the healthy cells and tissues of the body, according to the Mayo Clinic.
One of the complications of this disease and its treatment is that several people with the same disease may not have the same symptoms and may vary from person to person, according to GARD.
People with this condition are prone to develop type 1 diabetes, cellisca, or thyroid disease, as well as cancer in the bile ducts, according to GARD.
Fabry's disease
This disease can be explained as the lack or absence of enzyme activity in the cells. Enzymes are in the rhizomes of body cells and help break down proteins, carbohydrates, fats, among other substances. So a person has Fabry's Disease when they don't have enough enzymes to degrade, for example, fatty acids, according to GARD.
Those who suffer from this disease may suffer from pain, especially in the hands and feet; have angiokeratomas (small dark spots on the skin), have hypohidrosis (which is decreased secretion of pain), cataracts and hearing loss.
"There may be involvement of internal organs such as the kidney, heart or brain, resulting in progressive kidney damage, heart attacks and strokes," says the National Institute of Health.
Treatments may include enzyme replacement, pain medications, hemodialysis, kidney transplants, in cases of end-stage renal disease.
Cystic fibrosis
It is a progressive genetic disease that causes persistent lung infections that compromise the ability to breathe over time. The researchers say that differences in diet, lung transplantation and health care coverage can contribute to the survival gap.
https://www.cnn.com/2018/08/28/health/claire-wineland-lung-transplant/index.html
There is no cure for cystic fibrosis. The disease causes excess mucus, catches infections and blocks the airways in the lungs. In addition, it complicates digestion, affects the pancreas and other organs and eventually leads to respiratory failure. Compulsory treatments consume hours each day and can help relieve complications and symptoms, until they no longer stop. Sometimes those who suffer from this condition can add years to their lives with double lung transplants, assuming the surgery is successful.
Hemophilia
Hemophilia is an inherited genetic disorder that primarily affects men and causes people to have low levels of coagulation factor VIII, necessary for their blood to clot.
Lack of protein factor causes excessive bleeding even from minor injuries and can cause internal bleeding, which is life-threatening.
To date, there is no permanent cure for hemophilia, and patients have to receive multiple weekly injections of coagulation factor VIII to prevent and control bleeding.
It is estimated that more than 400,000 people worldwide suffer from hemophilia A, which is six times more common than hemophilia B. Type A sufferers lack factor VIII coagulation protein, while those with type B lack factor IX.
Other rare syndromes or diseases
Cyclic Vomiting Syndrome
It is a condition characterized by recurrent and prolonged episodes of severe nausea and vomiting. These episodes can last from hours to days. Symptoms may include severe sweating, paleness, weakness and fatigue, abdominal pain, diarrhea, fever, dizziness and headache, according to GARD.
Also known as urticaria pigmentosa, it is an overabundance of mast cells in the body that causes severe allergic reactions to almost all things. The skin of those who suffer from this disease turns purple and causes severe itching.
Cutaneous mastocytosis
Also known as urticaria pigmentosa, it is an overabundance of mast cells in the body that causes severe allergic reactions to almost all things. The skin of those who suffer from this disease turns purple and causes severe itching.
Congenital multiple arthrogryposis
It is a condition that affects joint movement, shortly after birth. It is not a specific disease, but it is a symptom that can be part of many diseases, according to GARD.
“It is suspected that it may be related to the decrease in fetal movements during development, which may be due to several different causes such as environmental factors (maternal disease, limited space in the uterus), or due to problems in the fetus (mutations in certain genes, chromosomal abnormalities and various syndromes) ”, says GARD.
Progeria
It is a disease that causes premature and accelerated aging.
Progeria affects approximately 1 in 20 million people; By December 2019, there were only 166 children with this condition in 51 countries of the world. . The genetic mutation associated with it causes those who suffer from the disease to produce the progerin protein, which blocks the functioning of the cells.
As they age quickly, these children suffer from body fat loss, hair loss and the inability to gain weight.
They are prone to developing osteoporosis, a disease in which the bones weaken and are more likely to break.
The average life span is 13 to 14 years and the death of these children is usually due to a heart attack or stroke, according to GARD.
Rare diseases