Fatal Familial Insomnia (FFI) is a genetic sleep disorder - but it is a rare one. It has been diagnosed in less than 40 families worldwide, including the Chicago music teacher, Michael Corke, who featured in the BBC documentary The Man Who Never Slept. 

FFI begins as an unexplained sleeplessness during middle age and rapidly develops into a fatal insomnia and it’s caused by a genetic mutation.

Fatal insomnia is a baffling condition (and only officially discovered 10 years ago) because its symptoms resemble many common diseases - like dementia, end-stage alcoholism and encephalitis. The main symptom of FFI is the inability to sleep, and this causes high pulse and blood pressure, excessive sweating and a loss of coordination and motor skills. The disease manifests itself in four deteriorating stages: 

STAGE ONE - The sudden and inexplicable onset of insomnia causes panic attacks and unfounded phobias, lasting for about four months.

STAGE TWO - As sleep deprivation takes hold, the panic attacks and hallucinations become severe, lasting for a further five months.

STAGE THREE - The total insomnia causes rapid weight loss and limited mental functioning, lasting for up to three months.

STAGE FOUR - Finally, the patient suffers from dementia and unresponsiveness, lasting for up to six months.

Eventually the patient falls into a coma and dies from total insomnia. One of the most tragic aspects of FFI is that though the sufferer shows signs of dementia, they have a clear understanding of what is happening to them, while enduring the physical agony of total sleeplessness.

Fortunately, a diagnostic test is now available, but there is no known cure for FFI. The only hope is that gene therapy will offer a solution to future generations.

Bubble boy disease refers to one of several genetic disorders that manifest as an inability by the body to produce T cells and B cells that battle infection or illness. Someone afflicted with this type of disorder has an immune system which functions so poorly it is typically considered to be effectively absent.

Someone with bubble boy disease does not ultimately die from the disease itself. Much like auto immunodeficiency syndrome (AIDS), a secondary infection or illness will ultimately cause the person’s death. With modern medical treatment, however, bubble boy disease can be fought and there is a decent chance of recovery through gene therapy, stem cell treatments, or bone marrow transplant.

The term “bubble boy disease” stems primarily from cases of the disorder in which the person afflicted with the illness was forced to live in a plastic bubble to avoid germs and viruses. A boy named David Vetter was the first “bubble boy” and was the person for whom the term was coined. He was born with the genetic disorder in 1971 and spent nearly the entirety of his life within a series of rooms separated from others by sheets of plastic. Unfortunately, he died in 1984 after a bone marrow transplant in which a dormant virus, which could not be found using screening practices of the time, was introduced into his system and spread like cancer throughout his body.

Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It can occur on its own, without any other symptoms or disease or may be passed down (inherited) in families. This trait involves only one gene that can cause several variations. 

Extra digits may be poorly developed and attached by a small stalk (generally on the little finger side of the hand) or, they may be well-formed and may even function. Poorly formed digits are usually removed. Simply tying a tight string around the stalk can cause it to fall off in time if there are no bones in the digit. Larger digits may need surgery to be removed. The doctor should ask the parents whether there was polydactyly at birth, because a person may not know they have it.

Refsum Disease is an inherited condition causing mainly vision loss and a change in the sense of smell. The condition is inherited in families. Both parents have to carry a defective gene and transfer it to the child in order for the disease to be transferred to them. 

The disease is caused by a defect in the genes, causing a buildup of a material called phytanic acid. You get this material from your diet, especially from beef and dairy products. This material is usually broken down by the body. In Refsum disease, this process doesn’t work properly, causing it to not break down and instead accumulate in the body. Since this material is toxic to our cells, it causes the disruption in sight and smell, as well as other symptoms.

 There are several things which occur in this disease: 

• Vision loss: It starts with loss of night vision, and later affects peripheral vision, making you see only what’s in front of you (a situation called “tunnel vision”).
• Anosmia (loss of the sense of smell) or dysosmia (smelling things differently than how they really smell).
• Problems with the bones in the hands and feet 
• Muscle weakness and wasting
• Poor balance and coordination – called ataxia
• Hearing loss
• Dry, scaly skin (called ichthyosis)
• Some develop an abnormal heart rhythm (arrhythmia) and other heart problems that can be life-threatening.

There is no direct treatment. People with Refsum disease are advised to avoid foods that contain phytanic acid. These foods include dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some symptoms, such as muscle weakness and the skin problem, disappear with treatment. Others, unfortunately, don’t. This includes the vision, smelling and hearing problems, that may persist.

Waldenström’s macroglobulinemia – A Rare Blood Cancer That Can Lead To Strokes

Waldesntrom’s macroglobulinemia (WM) is a type of cancer in the blood. Our blood contains many types of cells, one of them being white blood cells. They belong to our immune system and are meant to fight infections. Like there are many types of cells in the blood, there also several types of white blood cells (five types, actually). One of these types is lymphocytes. To make things even more complicated, lymphocytes themselves are divided into T cells and B cells (and that’s where the complication stops).

WM is a disease of B cell lymphocytes. B cells produce molecules called antibodies. Think of them as the weapons used by these cells to kill the bad guys. There is a type of antibody called IGM, which looks something like this:

• In WM B cells create too much of this antibody. The blood is then filled with these IGMs floating about. Because of their large structure, they cause the blood to become less liquid and more sticky, or viscous. The condition is then called hyperviscosity syndrome. This can lead to things such as nosebleed, dizziness, gum bleeding and blurred vision.
• In WM, like in other cancers, B cells multiply uncontrollably. They start infiltrating organs in the body. 

Symptoms can include: weakness, fatigue, bleeding from the nose or gums, weight loss and bruises in the skin. When the condition is more severe (meaning the blood is thicker) other things which may occur include: blurring or loss of vision, neurological problems (headaches, dizziness, and vertigo) and sometimes a stroke or coma may also ensue.

There’s no cure for WM. If someone doesn’t have any symptoms, usually no treatment is needed. If symptoms are present, though, usually chemotherapy is used.

Mastocytosis – Not a tumor, but its growth in your body can kill you

Mast cells belong to the immune system and are involved mostly in allergic reactions. These cells produce substances that cause some of the allergy symptoms - the most famous of them is histamine. In systemic mastocytosis the amount of these mast cells increases significantly, causing the disease. 

The disease develops when a mast cell starts dividing uncontrollably (like in cancer). Since the mast cells keep dividing, there are too many of them – and they can form a tumor, circulate in the blood or accumulate in organs. Also, substances that mast cells produce like histamine are released in larger amounts than usually. 

Symptoms can appear in any organ where mast cells accumulate. This can cause skin rashes, bone pain and problems with the liver, spleen or bone marrow, allergic reactions and low blood pressure. 

There is no cure for mastocytosis. Treatment is aimed at reducing symptoms, and this is done mostly by different types of pills (for example, anti-histamines which are usually used for allergies). In some cases patients have the same life expectancy as the normal population, but in the more violent types (which are, luckily, more rare) patients survive for several months only.

Sickle Cell Disease – When the Shape of Your Blood Cells Can Kill You

Sickle cell is a genetic disease which affects our red blood cells. It causes them to stick to each other and interrupt the blood flow in small vessels, so less blood gets to the organs.

Our red blood cells carry oxygen and bring it from our lungs to organs in our body. It’s necessary for them to survive. The molecule in the red blood cells that’s responsible for carrying the oxygen is called hemoglobin. The defect in the gene in Sickle Cell Disease causes hemoglobin to be distorted, meaning the red blood cells get distorted as well (they look like a sickle). This causes the red blood cell to be sticky. They stick to each other inside small blood vessels and clog them, and so less blood gets to the organs. 

Symptoms include: pain attacks (it can appear in the abdomen, bones, joints, and soft tissue), Hand-Foot Syndrome (swollen and painful hands and feet), Acute Chest Syndrome (Chest pain, fever, cough and difficulty breathing), damage to internal organs,  This happens when less blood gets to an organ- that organ might stop working. It can anemia and jaundice (a yellowish shade of the skin and the white part of the eyes). 

The treatment focuses mainly on treating the symptoms and preventing pain crises – things such as treating infections with antibiotics, easing the pain with pain killers, etc. The treatment isn’t meant to cure the disease but to help with the symptoms. The life expectancy in sickle cell disease is around 50-60 years, and the most common causes of death are organ failure (especially kidney) and infections.

Astrocytoma (Butterfly Tumor) is a type of brain tumor which tends to spread inside the brain ignoring anatomical borders. That causes it to be present on both sides of the brain (and sometimes look life a butterfly – hence the name).

Astrocytes are star-shaped brain cells located between nerve cells. When they start dividing without control, they create a tumor called astrocytoma. These tumors come in different grades – low grade tumors are slow-growing while high-grade tumors can be very aggressive.

The reason for astrocytoma is unknown, but scientists have found that it can be related to radiation to the head at young age, and there are several genes that are also related to this tumor.

Symptoms include changes in mental status, seizures, and movement or sensory problems.Besides that, astrocytoma can increase the pressure inside the skull causing symptoms like headaches, nausea and vomiting as well as decreased alertness. Even with treatment, it can be deadly. Patients with low-grade tumors can survive for an average of 6-8 years, but with high-grade aggressive disease, average survival is less that 1 year.

Treacher-Collins Syndrome (TCS for short), is a rare genetic disease causing deformities in the facial bones of our skull, such as absent cheek bones, small jaw and chin, sometimes an opening in the roof of the mouth can occur, called a cleft palate. In severe cases, it may impair the baby’s airways and be life threatening. The ears can also be affected and be absent, small, or have an unusual shape.

When a fetus develops, its organs have many phases along the way to becoming adult organs. An example for that are the pharyngeal arches, grooves, and pouches. In TCS, there’s a problem with growth of organs that derive from the 1st and 2nd arches (and grooves, and pouches) which are responsible for growth of structures in our face.

Congenital pain insensitivity is a rare condition in which a person can’t feel pain. It runs in families, but, since the cause for the disease is in the genes and it is so rare, it’s seen more in groups who marry amongst themselves (if someone carries a defective gene for a disease and has children with another carrier, the combination will give a new person with the defective genes from both parents). 

We have receptors (nerves) all over the body. They can sense the temperature, where our body is in space and pain – among others. When in pain, those receptors will send a message to our brain so that it “knows” we are in pain, in order to stop the action and try to avoid it in the future. For reasons unknown, in this condition, the connection between the nerves that sense pain and the brain’s recognition of pain is missing.

Unfortunately, it is incurable, the emphasis in treatment being on the prevention of injuries to the child. 

Harlequin-type ichthyosis is an unfortunate rare genetic illness characterized by extreme hyperkeratosis – a hardening and thickening of the skin – and this results in diamond-shaped scales all over the baby’s body. The eyelids are usually inside out, making the eyes vulnerable and prone to infection.  The ears are usually underdeveloped, and the limbs and digits are usually malformed.  Most babies born with it do not survive because the condition itself causes very stiff skin, which can restrict the baby’s breathing and cause the baby unable to suckle. 

Alice in Wonderland Syndrome (AIWS or AWS) describes a set of symptoms, the most famous of which are: alteration of body image (the sizes of parts of the body are perceived incorrectly), alteration of visual perception (the sizes of external objects are perceived incorrectly), distorted time perception (time moving quickly or slowly), distorted touch perception(e.g. a feeling that the ground is ‘spongy’ under the feet or that the sensation received from touching something is simply incorrect or unrecognized), distorted sound perception.

Most reports are about children experiencing AIWS symptoms, though many people experience it in later life. Many people say they had AIWS symptoms as a child, but ‘grew out’ of them around their teens. There is, as yet, no proven effective treatment for AIWS, but there are treatments for the possible causes listed (Classical migraine, Temporal Lobe Epilepsy, The Epstein-Barr virus, also known as ‘Glandular Fever’ or ‘Mono’),

Kuru is a very rare disease, caused by an infectious protein found in contaminated human brain tissue. It is found among people from New Guinea who practiced a form of cannibalism in which they ate the brains of dead people as part of a funeral ritual. This practice stopped in 1960, but cases of Kuru were reported for many years afterward because the disease has a long incubation period.

Kuru causes brain and nervous system changes; symptoms of kuru include arm and leg pain, coordination problems that become severe, difficulty walking, headache, tremors and muscle jerks, difficulty swallowing and beiong unable to feed oneself (this can lead to malnutrition or starvation).

The average time from exposure to symptoms (incubation period) is 10 to 13 years, but incubation periods of 30 years or even longer have been reported.

Argyria results from prolonged contact with or ingestion of silver salts. It is characterized by gray to gray-black staining of the skin and mucous membranes produced by silver deposition. The most common cause of argyria is mechanical impregnation of the skin by small silver particles in workers involved in silver mining, silver refining and photographic processing. Colloidal silver dietary supplements are marketed widely for cancer, AIDS, diabetes mellitus, and herpetic infections. Cases have followed the prolonged use of silver salts for the irrigation of urethral or nasal mucous membranes, in eye drops, wound dressing, and the excessive use of an oral smoking remedy containing silver acetate. Argyria has also been attributed to surgical and dental procedures (eg, silver amalgam-tattooing, silver sutures used in abdominal surgery). Great individual variability exists in the length of exposure and total dose needed to result in argyria.