BLACK pee, turning to stone, giant hands and elderly looking children.
These are all common symptoms of very rare health conditions, which many people, including medical professionals, have never heard of.
GettyBlack urine disease is a very rare inherited disorder that prevents the body from fully breaking down proteins[/caption]
But they exists, and can be a a major source of difficulty and shame for those who suffer from them.
Here, we look four of the more unusual medical conditions that some some people across the world have to live with.
1. Alkaptonuria
Frequency: one in one million people globally.
Alkaptonuria, or “black urine disease”, is a very rare inherited disorder that prevents the body from fully breaking down proteins.
This results in a build-up of a chemical called homogentisic acid in the body, according to the NHS.
This can turn urine and other parts of the body a dark colour and lead to a range of health problems over time such as brittle bones, shortness of breath, difficulty breathing and heart disease.
Treatments
There is currently no specific treatment or cure, but a diet low in protein is recommended to decrease the build up.
People with this condition have a normal life expectancy, but with a lesser quality of life.
2. Hutchinson-Gilford progeria syndrome
Frequency: one in four million people globally.
Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal, genetic condition characterised by the dramatic, rapid appearance of aging in beginning in childhood.
According to the National Organisation for Rare Diseases (NORD), children born with the condition usually begin showing symptoms at around 24 months of age.
Signs include includes prominent eyes, a thin beaky nose, thin lips, small chin and protruding ears.
The condition affects multiple systems of the body, causing physical and metabolic abnormalities.
Treatments
There is currently no cure but certain symptoms can be treated.
Children with the condition usually die at around the age of 14 of heart failure, the NHS says.
3. Alice in wonderland syndrome
Frequency: currently unknown.
Alice in Wonderland syndrome causes short term episodes of disorientation and distorted perception in those who suffer.
It affects the way your brain perceives your environment and how your body looks – hence it being named after the popular children’s fantasy novel.
Sufferer will find that they are confused as to the size and shape of their body parts.
The parts usually mentioned are the head and hands; growth seems more usual than shrinkage.
Scientists do not know for sure what causes the disease.
But research suggests it could be related to unusual brain activity caused by blood flow problems to the main sensory organs, such as sight.
The syndrome can be related to many factors including stress, epilepsy, stroke, brain tumour and hallucinogenic drugs.
Treatments
There is no medical treatment for the condition.
Doctors recommend the best thing to do is rest as the symptoms are not harmful.
The Brain Charity offer help and support to those suffering from AIWS.
4. Rasmussen’s encephalitis
Frequency: In the UK it is 1.7 per 10million people
Rasmussen’s encephalitis usually occurs in children under the age of 10.
According to the NHS, children with the condition experience frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body, inflammation of the brain and mental deterioration.
It can lead to the destruction or removal of a part of the affected child’s brain.
Most individuals with Rasmussen’s encephalitis will experience progressive brain damage over the course of the first eight to 12 months, and then enter a phase of permanent, but stable, neurological deficits.
Treatments
There are treatments to decrease brain inflammation at the acute stage, but there is no treatment to ultimately prevent disability.
5. Stoneman syndrome
Fibrodysplasia ossificans progressive (FOP), often known as stoneman syndrome, slowly turns connective tissue such as tendons, muscles and ligaments into bone.
The progression of the disorders starts from the neck to shoulders, and gradually proceeds to lower parts of the body and finally to the legs, says NORD.
Bone growth is triggered when an area of the body is injured.
Treatments
The condition does not have an effective treatment that can cure it or stop its progression.
Most patients are wheelchair-bound by the end of the second decade of life.
People with the condition commonly die of complications of thoracic insufficiency syndrome – which is a chest wall deformity that interferes with lung function and development.