Each of the following medical cases are very rare, affecting less than 5 in every 10,000 people. There are almost 7,000 rare cases with no cure in the UK, affecting 3.5 million people.
Elvira Roda is known as “bubble girl”. She has lived locked up inside her house for the past seven years. She can’t touch any of her family members because of the clothes they wear. She can’t go for a walk when it’s sunny, use a computer or wear perfume. If she did, she would suffer serious neurological, breathing and cardiac consequences. “Bubble girl” has Multiple Chemical Sensitivity, a rare illness that produces unrepairable damage if exposed to any toxic element in the air or everyday things such as gel or detergent.
Caique Sánchez, a 21-year-old Peruvian, never smiles, not because he doesn’t want to, but because he can’t. He was born with Moebius Syndrome, a condition that paralyses the face and impedes movement of the eyes and expressing emotions with the face. In many cases it can also cause deformities in arms and legs.
Caique wants to undergo “Smile Surgery”, which would give him movement in his face so he can smile with his family and friends.
Both Elvira and Caique are aware of the seriousness of their conditions, and would like people to continue supporting them and keep looking for cures for two of the world’s 7,000 currently known, rare diseases.
What makes these diseases stand out is their rarity. In order to be classified as rare, each specific illness can only affect a limited number of people, usually one in every 2,000. Although the fact that they are called rare does not mean they affect only a few people.
This means that diseases that are considered rare affect 7% of the world’s population, according to the World Health Organisation.
Something that makes them so notable, apart from their extreme complexity and rarity, is that they can be deadly, or leave sufferers chronically disabled.
Although there a numerous diseases of this type, they can’t all be said to origin from the same causes and most are detected before the age of two. Some 80% are genetic.
In many cases, symptoms vary not only from one condition to another, but one disease can present different symptoms in different people, complicating diagnosis and treatment even more. The drugs for these cases are described as orphaned, as they have no financial support to be developed.
Pharmaceutical companies could ask for financial support from the European Union, but they are reluctant to carry out research and develop medicines to cure these conditions as their cost of production is very high. Earnings from sales of these medicines would not break even.
This means that for many of these diseases, which require large investments for research, no cure will be found. The result is a heavy psychological burden both for the affected and their families.
The psychological consequences are also generated by a lack of knowledge about these conditions. In fact, in the UK, 46% of patients have been misdiagnosed at least once before being given the final diagnosis of their illness. For one in ten patients, it took ten years to find out what their problem was.
Being a rare illness does not mean it is not well known by the community of researchers and society in general. Some have even become famous. Such is the case of Amyotrophic Lateral Sclerosis, or ALS, mostly known because of Stephen Hawking.
ALS is a degenerative neuromuscular disease where a person’s nerve cells gradually reduce their functions until they die, causing muscular weakness and paralysis. The problem can continue even until a person finds it difficult to breathe for themselves.
Another well-known disease, due to more exposure in the media, is Narcolepsy, or Gelianu Syndrome. It is a neurological sleep disorder that causes extreme sleepiness during the day. Curiously, it also causes insomnia or interrupts normal sleep patterns, as well as weakness and muscle paralysis.
Cinema has portrayed another one of these rare conditions: Tourette’s syndrome. There have been serious films, like “Niagara, Niagara” and “Front of the class”, as well as unrealistic portrayals such as in “Not another teen movie”. Tourette’s, named after the French neurologist who named the condition in 1885, is known for causing rapid, involuntary movements and grunts or words which in many cases are offensive. It is believed that Napoleon and Hans Christian Andersen are among the people who have had Tourette’s.
Albert Einstein and Isaac Newton both seemed to present characteristics of Asperger’s syndrome. Three in every 1,000 children have Asperger’s, a type of autism that makes it difficult to socialise and communicate. People with this condition show a limited range of interests, or a particular interest in one topic Lack of empathy and strict repetition of routines are other characteristics of Asperger’s.
Unusual and incredible
A simple task such as taking a shower is impossible for Ashleigh Morris. This young Australian girl is one of only 31 people in the world with Aquagenic Urticaria, which could be described as a kind of allergy to water.
Another example is congenital insensitivity to pain, known as CIP, which makes 9 year-old Gabby Gingras feel no pain. It is a hereditary nervous system anomaly, where the person feels no pain and is also unable to tell the difference between temperature changes, as there are no pain-transmitting nerve cells.
Although there is no specific age for most of these illnesses, some of them, like Progeria or Hutchison-Gilford syndrome affect only children. This syndrome causes premature ageing during the ages of 1 and 2. Its characteristics are alopecia, prominent eyes, an enlarged skull and weak, thin arms and legs. The syndrome can lead to osteoporosis and heart problems, and usually causes death before the age of 18.
Even though being sick is a part of life, only regular health care is needed to treat most illnesses in the world, causing conditions like these to be forgotten.
But neither Elvira, Caique, nor any of the people affected with any of these rare conditions, want to be forgotten. Their lives can be improved through research and early diagnosis, and in the best cases, they may find a cure.
(David Buchanan (Google Drive) – Email: firstname.lastname@example.org)