A loving mother and father proudly examine their newborn daughter in a bassinet. Ten tiny fingers. Ten tiny toes. Adorable button nose. Baby soft skin. Perfection. Little do these parents know that within two short years, their daughter will undergo many changes, both inside and out. A visit with a physician and the subsequent diagnosis will change their lives forever.
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), was initially discovered in England in 1886 and is an extremely rare and fatal childhood disease, affecting only 1 in 20 million individuals[1]. There are anywhere from 200-400 children worldwide at any given time living with the condition[1,2], and it seems to affect both genders equally[1]. Another …show more content…
The purpose of the lamin A protein is to influence the shape of a cell’s nucleus, as well as aid in the strengthening of the nuclear envelope[2]. The LMNA mutation causes the body to produce atypical lamin A proteins, resulting in the instability of the nuclear envelope, which, in turn, damages the nucleus, increasing the risk of premature cell death[2]. The anomalous lamin A protein is called Progerin, and is believed to cause the noted symptoms of Progeria[1]. The LMNA mutation is usually completely by chance and extremely rare, so Progeria is not considered a hereditary …show more content…
The Diagnostic Testing Program includes a physical assessment of the child, overview of the medical records, and testing a blood sample provided by the patient. The testing of the blood sample identifies the specific mutation in the Progeria gene, which leads to a conclusive diagnosis[1].
Progeria is a fatal disease in which the patients’ usual life expectancy is 13 to 14 years[2]. The longest lived Progeria sufferer, Meg Casey, passed away in May 1985 at the age of 29[3].
Progeria has no cure, but the goal of the medication given to a patient suffering from the disease is management of symptoms and diseases caused by it.[2] Palliative and preventive measures taken for the complications associated with Progeria include: exercise, special diets (as needed for the individual patient), sunscreen to protect the thin skin from the damaging effects of the sun, physical and occupational therapies as needed, and various medications including, but not limited to, nitroglycerin, statins, and
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), was initially discovered in England in 1886 and is an extremely rare and fatal childhood disease, affecting only 1 in 20 million individuals[1]. There are anywhere from 200-400 children worldwide at any given time living with the condition[1,2], and it seems to affect both genders equally[1]. Another …show more content…
The purpose of the lamin A protein is to influence the shape of a cell’s nucleus, as well as aid in the strengthening of the nuclear envelope[2]. The LMNA mutation causes the body to produce atypical lamin A proteins, resulting in the instability of the nuclear envelope, which, in turn, damages the nucleus, increasing the risk of premature cell death[2]. The anomalous lamin A protein is called Progerin, and is believed to cause the noted symptoms of Progeria[1]. The LMNA mutation is usually completely by chance and extremely rare, so Progeria is not considered a hereditary …show more content…
The Diagnostic Testing Program includes a physical assessment of the child, overview of the medical records, and testing a blood sample provided by the patient. The testing of the blood sample identifies the specific mutation in the Progeria gene, which leads to a conclusive diagnosis[1].
Progeria is a fatal disease in which the patients’ usual life expectancy is 13 to 14 years[2]. The longest lived Progeria sufferer, Meg Casey, passed away in May 1985 at the age of 29[3].
Progeria has no cure, but the goal of the medication given to a patient suffering from the disease is management of symptoms and diseases caused by it.[2] Palliative and preventive measures taken for the complications associated with Progeria include: exercise, special diets (as needed for the individual patient), sunscreen to protect the thin skin from the damaging effects of the sun, physical and occupational therapies as needed, and various medications including, but not limited to, nitroglycerin, statins, and