RARE DISEASES THAT ALTERED THE MEANING OF LIFE
By: Rhodeza Mae S. Junio
LAURENCE-MOON-BIEDL SYNDROME
One out of 125,000 people in Britain suffers from Laurence-Moon-Biedl syndrome. This rare genetic disorder causes much more serious, debilitating manifestations than autism. Typical features of a person who has the LMB syndrome include visual impairment leading to blindness, obesity, extra fingers and/or toes, developmental delay, coordination problems, diabetes mellitus, osteoarthritis, kidney abnormalities, and subnormal development of genital organs. Most of its victims whose parents did not have enough money for extensive medical care, die young.
British physician John Zachariah Laurence (1830-1874) and American ophthalmologist Robert Charles Moon (1844-1914) were the coauthors of the first description of the LMB syndrome. Their 1866 account was based on four cases of retinitis pigmentosa occurring in the same family. Later, German physician Arthur Biedl (1869-1933) published a description of the syndrome in 1922 that elaborated the earlier description of Laurence and Moon. Retinitis pigmentosa is any of the hereditary progressive degenerative diseases of the eye marked by night blindness in the early stages, atrophy (decrease in size or wasting away of a body part or tissue) and pigment changes in the retina, constriction of the visual field and eventual blindness. There is no reported case of LMB in the Philippines.
One out of 125,000 people in Britain suffers from Laurence-Moon-Biedl syndrome. This rare genetic disorder causes much more serious, debilitating manifestations than autism. Typical features of a person who has the LMB syndrome include visual impairment leading to blindness, obesity, extra fingers and/or toes, developmental delay, coordination problems, diabetes mellitus, osteoarthritis, kidney abnormalities, and subnormal development of genital organs. Most of its victims whose parents did not have enough money for extensive medical care, die young.
British physician John Zachariah Laurence (1830-1874) and American ophthalmologist Robert Charles Moon (1844-1914) were the coauthors of the first description of the LMB syndrome. Their 1866 account was based on four cases of retinitis pigmentosa occurring in the same family. Later, German physician Arthur Biedl (1869-1933) published a description of the syndrome in 1922 that elaborated the earlier description of Laurence and Moon. Retinitis pigmentosa is any of the hereditary progressive degenerative diseases of the eye marked by night blindness in the early stages, atrophy (decrease in size or wasting away of a body part or tissue) and pigment changes in the retina, constriction of the visual field and eventual blindness. There is no reported case of LMB in the Philippines.
PREMATURE AGING
For victims of progeria, death is inevitable before reaching the age of 30. Children who are victims of this extremely rare disease do not exceed the height of a five-year old. By the time they are 10, they look like a 60-year old. Many of the superficial aspects of aging, such as baldness, thinning of the skin, prominence of blood vessels of the scalp, and vascular diseases, occur. Sex organs remain small and underdeveloped. Death, in which the median age is 13, is usually caused by cardiovascular disease.
Most victims of progeria have normal intelligence, but a few have exhibited mental retardation. When the child reaches 10 years old, extensive arteriosclerosis and heart disease have already developed. Despite unparalleled advances in medical science, the cause of progeria remains unknown.
For victims of progeria, death is inevitable before reaching the age of 30. Children who are victims of this extremely rare disease do not exceed the height of a five-year old. By the time they are 10, they look like a 60-year old. Many of the superficial aspects of aging, such as baldness, thinning of the skin, prominence of blood vessels of the scalp, and vascular diseases, occur. Sex organs remain small and underdeveloped. Death, in which the median age is 13, is usually caused by cardiovascular disease.
Most victims of progeria have normal intelligence, but a few have exhibited mental retardation. When the child reaches 10 years old, extensive arteriosclerosis and heart disease have already developed. Despite unparalleled advances in medical science, the cause of progeria remains unknown.
FILARIARIS
Filariasis, more popularly known as elephantiasis is characterized by the enormous enlargement or gross expansion of the limb or scrotum caused by the obstruction of the lymphatic vessel by filarial worms of the genus Wuchereria bancrofti. This disease is fatal to dogs and mammals and even to humans if there are no immediate medical interventions made before reaching its advance stage.
Once a Culex fatigans mosquito, eats the larva of microfilariae and then bites a human body, the larva reach maturity in about a year. The nematode (or worm) lives principally in the lymph nodes and lymph vessels, notably those draining the legs and genital area, where the adult worms induce allergic reactions in the sensitized tissues. The initial inflammatory stage is characterized by lesions, swelling, and impaired circulation; this stage is followed by enlargement of the lymph nodes and dilation of the lymph channels, which, over the years, harden and become infiltrated and clogged with fibrous tissue. It was reported that the scrotum of some untreated victims of elephantiasis weigh as much as 20 kilos that required immediate, extensive surgery. Immediate and appropriate medical intervention must be done when symptoms of elephantiasis are manifested in an individual.
Filariasis, more popularly known as elephantiasis is characterized by the enormous enlargement or gross expansion of the limb or scrotum caused by the obstruction of the lymphatic vessel by filarial worms of the genus Wuchereria bancrofti. This disease is fatal to dogs and mammals and even to humans if there are no immediate medical interventions made before reaching its advance stage.
Once a Culex fatigans mosquito, eats the larva of microfilariae and then bites a human body, the larva reach maturity in about a year. The nematode (or worm) lives principally in the lymph nodes and lymph vessels, notably those draining the legs and genital area, where the adult worms induce allergic reactions in the sensitized tissues. The initial inflammatory stage is characterized by lesions, swelling, and impaired circulation; this stage is followed by enlargement of the lymph nodes and dilation of the lymph channels, which, over the years, harden and become infiltrated and clogged with fibrous tissue. It was reported that the scrotum of some untreated victims of elephantiasis weigh as much as 20 kilos that required immediate, extensive surgery. Immediate and appropriate medical intervention must be done when symptoms of elephantiasis are manifested in an individual.
Euthanasia (Mercy Killing)
By: Lino C. Soriano
In 1982, a physician in the State of Indiana followed the wishes of the parents of an infant with down syndrome by withholding medical intervention in the form of surgery, which is vital to save the baby's life. As a result, the baby died.
In Manila, an impoverished young mother voluntarily removed the life-support systems attached to her because her family cannot afford the escalating hospital bills. She died minutes later.
These two cases of mercy killing or euthanasia are not isolated. Euthanasia is defined by Encyclopedia Britannica as the act or practice of painlessly putting to death persons suffering from painful and incurable disease or incapacitating physical disorder.
Mercy killing evidently started in Nazi Germany in 1939. Formerly known as the ‘T4 Program,’ the Nazis coined the word ‘euthanasia’ - the systematic killing people who are incurably sick, those suffering from physical or mental disorder, emotionally distraught, and even elderly people. Victims were described as having ‘life unworthy of living,’ ‘burdensome lives,’ ‘useless eaters,’ and an embarrassment to the ‘master race.’ Even though the T4 Program officially ended in 1941, it was clandestinely carried out until 1945, where more than 200,000 were reportedly killed.
In 2001, The Netherlands was the first country to legalize euthanasia, followed by Belgium in 2002, while in 1997, Oregon became the first American state to decriminalize mercy killing.
By: Lino C. Soriano
In 1982, a physician in the State of Indiana followed the wishes of the parents of an infant with down syndrome by withholding medical intervention in the form of surgery, which is vital to save the baby's life. As a result, the baby died.
In Manila, an impoverished young mother voluntarily removed the life-support systems attached to her because her family cannot afford the escalating hospital bills. She died minutes later.
These two cases of mercy killing or euthanasia are not isolated. Euthanasia is defined by Encyclopedia Britannica as the act or practice of painlessly putting to death persons suffering from painful and incurable disease or incapacitating physical disorder.
Mercy killing evidently started in Nazi Germany in 1939. Formerly known as the ‘T4 Program,’ the Nazis coined the word ‘euthanasia’ - the systematic killing people who are incurably sick, those suffering from physical or mental disorder, emotionally distraught, and even elderly people. Victims were described as having ‘life unworthy of living,’ ‘burdensome lives,’ ‘useless eaters,’ and an embarrassment to the ‘master race.’ Even though the T4 Program officially ended in 1941, it was clandestinely carried out until 1945, where more than 200,000 were reportedly killed.
In 2001, The Netherlands was the first country to legalize euthanasia, followed by Belgium in 2002, while in 1997, Oregon became the first American state to decriminalize mercy killing.
Modern medical practice that use state-of-the art medical equipment such as heart-lung machine, to prolong the life of a patient has raised a number of questions on up to what course of medical intervention should be done in cases of extreme physical or emotional suffering, especially if the patient has no capacity to choose. In some countries, withdrawing high-tech life support systems has resulted in the filing of criminal or malpractice cases against the physicians, while families of comatose or terminally-ill patients have instituted legal action against the physician or medical institution to compel them to pull the plug.
In the Philippines, there is no law that allows mercy killing, but in many cases, the extremely high cost of extraordinary medical care has prevented the family to authorize the use of high-tech procedures in order to save the life of the patient. The legal profession and the Department of Health are silent on this, especially when the hopeless, impecunious patient had to die because his family cannot afford or sustain prolonged medical treatment.
Many countries abhor euthanasia but they allow the murder or abortion of human embryos as sources of embryonic stem cells - used to cure some illness or invigorate and make look younger, old and very old rich people.
But when is the killing of a human being (even those in embryonic stage) legal or ethical? Does anyone has the right to play God?
In the Philippines, there is no law that allows mercy killing, but in many cases, the extremely high cost of extraordinary medical care has prevented the family to authorize the use of high-tech procedures in order to save the life of the patient. The legal profession and the Department of Health are silent on this, especially when the hopeless, impecunious patient had to die because his family cannot afford or sustain prolonged medical treatment.
Many countries abhor euthanasia but they allow the murder or abortion of human embryos as sources of embryonic stem cells - used to cure some illness or invigorate and make look younger, old and very old rich people.
But when is the killing of a human being (even those in embryonic stage) legal or ethical? Does anyone has the right to play God?
References:
- The Watchtower, May 15, 2013, Encyclopaedia Britannica 2012,
- Merriam Webster’s Medical Dictionary 1996