Many occasions in the DOTY calendar are good fun, like Rubber Duckie Day and Extraterrestrial Culture Day. Some occasions aren’t as fun, such as Work Like a Dog Day and Clean Out Your Refrigerator Day. Then there’s Rare Disease Day on Saturday 28th February, which is in a league of its own.
As you may have guessed, the day was created to raise awareness of diseases that most people don’t know much about, as well as to improve access to treatment. However, all I can seem to think about is that episode of Dr Who set in the year five billion and twenty-three on New Earth, where the Duke of Manhattan is dying from Petrifold Regression, a disease that turns its victims to stone. I can’t remember whether or not Christopher Eccleston cured it. I don’t think he did; he probably just buggered off to watch dinosaurs or say something witty to Queen Victoria.
Anyhoo, as is to be expected there’s a huge amount of diseases out there, many of which even the most experienced doctors and skilled biologists may not have come across. But this is the age of the interwebs, and thanks to the National Center for Advancing Translational Sciences and its Office of Rare Diseases Research, anyone can delve into this wrinkly, spotty, rotting world of buboes and grotesque abnormalities whenever they please, although I suggest not doing so whilst eating your lunch (I’m speaking from experience here).
Having chosen one example for each letter of the alphabet, below is a massively reduced A to Z of rare diseases. The website above has its own alphabetised directory, but for ‘A’ alone there are 4,565 entries. This poses a highly pertinent question: How the hell are any of us still alive?
Abetalipoproteinemia is a disease in which a person is unable to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to gain weight and grow at the expected rate, diarrhoea, and stool abnormalities.
Becker muscular dystrophy (BMD) is an inherited condition that primarily affects males and causes progressive weakness and wasting of the skeletal and heart muscles.
C syndrome is characterised by severe intellectual disability, hypotonia, variable cardiac defects, extra folds of skin, joint and limb abnormalities, and unusual facial features.
Dandy-Walker complex is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it.
Ehlers-Danlos syndrome (EDS) is a group of disorders that affect connective tissue, which supports the skin, bones, tendons, ligaments, blood vessels, and other organs. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications.
Facioscapulohumeral muscular dystrophy is a disorder characterised by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral).
Galactosemia, which means “galactose in the blood”, is a rare inherited condition. People with galactosemia have problems digesting a type of sugar called galactose from the food they eat. Because they cannot break galactose down properly, it builds up in their blood.
Hailey-Hailey disease is a hereditary blistering skin disease. Signs and symptoms include a painful rash and blistering in skin folds such as the armpits, groin, neck, under the breasts, and between the buttocks.
Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturisers which contain chemicals that help the skin to shed normally.
Jackson-Weiss syndrome (JWS) is a genetic disorder characterised by specific malformations of the head and facial area and abnormalities of the feet.
Kennedy disease is a gradually progressive neuromuscular disorder chiefly characterised by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat). The condition mainly affects males, with onset between the ages of 30 and 60.
Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterised by the sudden or gradual development of aphasia (the inability to understand or express language).
Madelung disease is a rare condition characterised by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk.
Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterised by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose.
Occipital horn syndrome (OHS) is characterised by sagging and non-stretchy skin, wedge-shaped calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose joints.
Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones.
QT long syndrome type 7 (Andersen-Tawil syndrome) is considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities.
Reactive arthritis is a type of infectious arthritis that occurs as a “reaction” to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the eyes (conjunctivitis) and inflammation of the urinary tract (urethritis).
SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones).
Testotoxicosis is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. The disease generally presents between 2 and 4 years of age. Patients have accelerated growth, early development of secondary sexual characteristics and reduced adult height.
Uncombable hair syndrome is a rare condition affecting the hair shaft of the scalp. The condition is characterised by dry, frizzy, blond- to light brown-coloured hair that is impossible to comb and that stands out from the scalp.
Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure.
Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligaments that hold the spleen in its normal position in the upper left abdomen.
XY disorder of sex development is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female.
Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children.
Zollinger-Ellison syndrome (ZES) is a condition in which tumours called gastrinomas in the pancreas and duodenum (part of the small intestine) cause high levels of the hormone gastrin in the blood. High levels of gastrin then cause production of too much stomach acid.