Fields Disease
Fields disease is one of the rarest known diseases in the world. There are only two known cases so far; they are identical twins known as Catherine and Kirstie Fields, from Wales. The disease is named after them.
Fields disease was first noticed when the twins were 4 years old. Doctors haven’t been able to identify or match it to any known disease. The twins have undergone many tests with no definitive reasons for the condition and no available treatment, making doctors conclude that the twins were born with it.
Chances of getting this disease are one in 3.75 billion, but since the disease was diagnosed in identical twins, the actual frequency is 1 in approximately 7.5 billion. The disease has no medical name other than ‘Fields disease’. Doctors call it a neuromuscular disease as the muscles in the body tend to slowly deteriorate, causing limited movement.
The twins have been examined by doctors all over and the disease has been so rare and unknown that it has made it unable for them to predict what would happen next. Fields disease has made the twins wheelchair-bound. It has made it hard for them to perform even a simple task such as writing.
Hutchinson-Gilford Progeria Syndrome
Progeria is an autosomal dominant condition—which means one copy of the altered gene in each cell is sufficient to cause this condition. Mutation in the LMNA gene causes this condition, which almost always happens with no family history of the disorder.
Progeria affects 1 in around 4 million newborn children worldwide. According to scientific literature, more than 130 cases have been reported since the condition's discovery in 1886. Progeria is a genetic condition, but it is rarely passed through the family.
Rarely does more than one child inherit it. The condition occurs due to a new mutation causing a rapid appearance of ageing which occurs at the beginning of childhood. Causing the child to develop an abnormally-small face with prominent bulging eyes, a thin beak-tipped nose, thin lips, a small chin, protruding ears, an underdeveloped jaw, hair loss (alopecia), aged appearance, and joint abnormalities.
At last, the child loses the layer of fat beneath the skin and the elasticity in the arterial walls, causing a heart attack or stroke in 90% of cases. Death from this condition happens on an average age of 13. This condition doesn’t affect intellectual and motor skills and there is no cure for it; doctors focus on reducing complications caused by the disorder.
Water Allergy Syndrome (Aquagenic Urticaria)
Aquagenic Urticaria (hives) is an extremely rare condition where the person affected breaks out in a rash when coming into contact with water at any given temperature. Symptoms usually start during the onset of puberty and they mostly affect women.
People affected by this condition appear to be allergic to water. The water causes a painful burning and itching rash. The hives associated with Aquagenic Urticaria are typically small (1-3mm) red or skin-coloured welts. The rash mostly develops on the arms neck and upper trunk, although it is possible to develop on other parts of the body. When the water source is removed, the rash gradually fades within 30-60 minutes.
The exact cause for this condition is unknown, but scientists believe it to be caused by a substance dissolved in the water which enters the skin causing an immune response. According to this theory, the allergy is not caused by water, but by an allergen in the water.
Further, it’s stated that interaction between water and an allergen on the skin generates a toxic substance causing the rash. This condition is known to be sporadic with no family history, but there have been familial cases. In a family, three generations have been known to be affected by this condition. In some cases, reported there have been other conditions associated with this. Due to the rarity of this condition, the effectiveness of treatment data is limited.
Alice in Wonderland Syndrome (AIWS)
This condition, also known as dysmetropsia, is a disorienting neuropsychological condition that affects visual perception. A person with this condition experiences alteration of body image. Alteration of visual perception causes the person to see body parts and other objects incorrectly. The head and hands are mostly disproportionate and the effect is worse at night.
It affects vision, touch, and hearing. This can make the person lose their sense of time. They may feel the time passing slower or faster than it actually is. This condition primarily affects children and young adults. With age, most grow out of this condition, but some tend to continue to experience this in adulthood as well.
AIWS has no proven treatment, but treatment programmes are used for relief from the probable cause of AIWS. Chronic cases of AIWS are untreatable and have to be left to wear off on their own. The probable treatment is migraine prophylaxis (antidepressants, anti-convulsion medication, beta-blockers, and calcium channel blockers) and a migraine diet; anecdotal reports suggest that symptoms are common during childhood.
Signs and symptoms are migraines, size distortion, time distortion, sound distortion, and hallucinations A person with this condition can have hallucinations and distortions several times during the day and it may take longer to subside, causing the person to get terrified, anxious and panic-stricken.
The manifestations aren't life-threatening and will in all likelihood, fade off in time. Alice in Wonderland Syndrome was named after famous author Lewis Carroll’s 19th-century novel Alice’s Adventures in Wonderland. In the novel, the character faces numerous situations close to this condition.
Moebius Syndrome
Moebius Syndrome is a rare neurological condition that primarily affects facial expressions and eye movement characterised by weakness or paralysis of facial muscles, causing problems such as trouble eating, swallowing; as well as choking, eye sensitivity, hearing problems, high or cleft palate, drooling dental abnormalities, cross eyes, speech difficulties, and bone abnormalities in the limbs.
Children with this condition have delayed motor skills such as crawling or walking, but most eventually succeed. This condition is caused by the underdevelopment or absence of the 6th and 7th cranial nerves that control facial expression and eye movement. Other cranial nerves could be affected too.
It’s not a progressive condition and the exact cause of the condition is not known. It appears to be mostly sporadical; but in some cases, it occurs in families, suggesting the possibility of a genetic component. The severity and abnormalities of this condition are different from person to person.
With proper medical care, a person with this condition who doesn’t have life-threatening complications in the first year of life usually has a normal life expectancy. There is no cure for Moebius Syndrome, but proper care and treatment can help many individuals live a normal life.
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