1 in a Million- Rare Disease

1 in a Million- Rare Disease

Rare means unusually good or excellent. It could also mean infrequently encountered or scarce. Diamonds are rare. But when the adjective is used to qualify a disease, it is hardly good news. Recently, Michael Jackson was reported to be suffering from a rare genetic disease called Alpha-1 antitrypsin deficiency. The condition is just one among the 8,000 or so known rare disease worldwide.

Rare diseases are also called orphan diseases, characterized by a low prevalence in the general population. Most of these conditions are chronic, progressive, debilitating and often, life -threatening. Yet, information is scarce and research insufficient. Delay in diagnosis, misdiagnosis, psychological burden and lack of support groups make orphan diseases a mammoth medical challenge.

Acknowledging this challenge for the first time, European Organization for Rare Diseases (EURORDIS) and National Alliances announced February 29, 2008, as the first European Rare Disease Day. And every non-leap year the day will be observed on February 28. We don't even have a medical definition for the term. In the common parlance, doctors refer to them as diseases that appear 'once in a blue moon.' In the United States, a rare disease occurs in less than 2, 00,000 individuals, while in the European Union less than 5 per 10,000 individuals suffer from a rare condition. Few rare of the rarest are mentioned below.

ALPHA-1 ANTITRYPSIN DEFICIENCY (Michael Jackson's ailment)

It is an inherited disorder that can cause lung disease in adults and children. It also causes a skin condition known as panniculistis which hardens the skin and causes painful lumps or patches. Symptoms usually include shortness of breath after activity, weight loss, recurring respiratory infections, fatigue, rapid heartbeat and vision abnormalities. Antitrypsin deficiency is caused by mutations in the SERPINA1 gene-the one that provides instructions for making a protein called alpha-1 antitrypsin. Replacement therapy with the missing protein is available. But its effectiveness has not yet been established. Treatment options include bronchodilators, antibiotics and lung transplantation.

MUTIPLE ENDOCRINE NEOPLASIA TYPE 2B (MEN 2B)

Those who suffer from this subtype of genetic disease invariably develop cancer in the thyroid or the adrenal gland. Physician and amateur historian John Sotos believed that Abraham Lincoln had MEN 2B. Droopy eyelids with thickened edges and bumpy upper lips; enlarged colons that bulge and gurgle audibly are a few symptoms. Some manifestations are neuromas, lumps of nerve tissue, tongue, lips and eyelids. These growths also occur in the intestines and can cause constipation or diarrhea. In about half the cases, patients inherit the disease from a parent. Though there is no known cure, surgical excision of identified tumors is considered to be an option.

MARFAN SYNDROME (Michael Phelps's condition)

This is a connective tissue disorder that involves the eyes, skeleton, heart and aorta. It is a rare disease with an incidence of 2-3 per 10,000. It is characterized by long arms, legs and fingers, loose joints and weakness of the aorta. Skeletal involvement leads to tall stature, joint hyper-mobility, chest and spine deformities. Nervous system involvement may be manifested with spinal problems, attention deficit disorder and hyperactivity. One only needs one copy of changed gene in order to have the disorder. There's no cure as yet. But a range of treatments can minimize and prevent further complications.

FRONTOTEMPORAL DEMENTIA (FTD)

This is a progressive and irreversible disorder, also known as Pick's Disease. Some of its symptoms are: behavioral changes, cognitive decline and difficulty in speaking. Some patients even develop impulsive or inappropriate behavior like blatant shoplifting. Many cases go misdiagnosed for years. Most cases are not inherited and the disease appears to be caused by an abnormal form of protein deposited in the brain cells. Some victims are as young as 20, but the average age of onset is 54. There's no treatment yet to stop or reverse the underlying brain deterioration. Therapy may, at best, offer symptomatic relief.

LONG QT SYNDROME (LQTS)

A heart rhythm disorder which causes fast, chaotic heartbeats and, in some cases, even sudden death. It typically affects children. It may be wrongly diagnosed as epilepsy or other neurological disorders. The right diagnosis can be made with an electrocardiogram (ECG). Ten genes have been identified as the cause. In addition more than 50 medications may cause Long QT syndrome. Conditions like congenital heart defects also may be a cause. Medications (beta blockers) may be used to treat the syndrome. One may also need an implantable device to control the heart's rhythm, along with lifestyle changes.

WINDSWEPT DEFORMITY

A rare knee disorder in which one knee is deformed outwards, while the other one is turned inwards. The deformity is commonly seen in children with rickets but it is very rare in adults. Only 24 cases have been reported worldwide. You can see 45 percent angulations in both knees, unlike rickets where the deformity is only in one knee. Typically, it affects children up to the age of seven or eight years. The child is born with knock knees, though congenital problems in orthopedics are extremely rare. There is little one can do by the way of medication. Bilateral knee replacement surgery is only option.

FABRY DISEASE

It is a rare hereditary disorder, which mostly affects men. Body pain, impaired sweating, exercise intolerance, skin rashes, gastro-intestinal problems, heart problems, kidney problems and nervous system problems are some of the symptoms. When people inherit the abnormal gene that causes Fabry disease, their bodies cannot produce enough alpha-galactosidase A or alpha-GAL an enzyme needed to clear certain cells in the body of a fatty substance called globotriaosylceramide or GL-3. Enzyme replacement therapy (ERT) is currently availed. Medications and lifestyle approaches for relief are advised.

KYPHOSIS

Increase in angle of curvature in the vertebrae in the backward direction leading to a hunchback deformity. The backward angulation not only results in pain and grotesque cosmetic deformity, but can also cause pressure on the spinal cord. It can also cause progressive weakness in the legs and loss of bowel and bladder control (paraplegia). Deformities above a certain angle need surgical management.

CRIGLER-NAJJAR SYNDROME

It is a rare disorder that affects the metabolism of billirubin- a chemical formed from the breakdown of blood. It results in an inherited form of non-hemolytic jaundice, often leading to brain damage in infants. An individual has to inherit two copies of the defective gene, one from each parent, in order to develop this syndrome. Symptoms include low muscle tone (hypotonia), deafness and lethargy; death or permanent brain damage may also happen. Treatment usually involves plasma exchange transfusion. Long-term phototherapy is also an option. But, as age advances, the efficacy of phototherapy declines. A definitive treatment is Partial Auxiliary Orthotopic Liver Transplantation (PAOLT).

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