There are many different diseases that can affect children of all ages. Some of these diseases can be very serious and result in life-threatening complications. One of the many rare diseases found in children is called progeria and often it is fatal.
Progeria is a progressive genetic disorder that is known to cause a child to age very rapidly. Usually the first signs of progeria will develop within the first two years of life even if the child appears normal. Progeria is also called Hutchinson-Gilford progeria syndrome and it can affect any infant regardless of race. By 12 months of age. The first signs and symptoms of the disease will develop such as changes in the skin and hair loss. Usually a child diagnosed with progeria only live to be 13 years old, but some children can die younger than that. Hey child who is diagnosed with progeria could also go on to live for more than 20 years, depending on the severity of the condition. A child with this condition will eventually die of heart problems or a stroke related to complications from the disease. Currently there is no cure for progeria but more intense research is showing promises for treatment.
Progeria often presents itself with many different signs and symptoms that are unique to the condition. Usually the signs and symptoms will begin within the first 12 months of life but it can continue until two years of age. The most notable symptoms of progeria are physical changes and delayed physical development. A child will often have below average height and weight and a narrow face with a beak nose. Hair loss including the eyelash and eyebrows is also common in this condition. There will also be hardening and tightening of the skin, especially around the extremities, which is called scleroderma. The skin will appear loose and look really aged, the head will appear too large for the face and there are prominent veins in the scalp. A smaller lower jaw and a high-pitched voice are also common signs of progeria. A child with this condition will also have abnormal or delayed tooth formation, loss of body fat and muscle, hip dislocation and stiff joints.
The cause of progeria is from a single gene mutation known as lamin A. This gene is necessary to hold the center of the cell together and it is thought that the mutation makes the cells unstable. When a cell becomes unstable it leads to the characteristic aging process you often see in person with progeria. This gene is not passed down in families but actually occurs and a sperm or egg before conception. There are no carriers of progeria so a mother or father cannot pass this down to their child.
Generally, a child diagnosed with progeria develops severe atherosclerosis which can be fatal. Atherosclerosis is when the walls of the arteries stiffen and become thick, which can often restrict blood flow. Cardiovascular problems relating to the atherosclerosis are a common reason why a child who has this condition will die. The cardiovascular problems will often result in a heart attack and lead to congestive heart failure. There can also be problems with the blood vessels that supply the brain, which are cerebrovascular problems. The story through vascular problems will often result in a stroke, which can be life-threatening and often have a fatal outcome. Cataracts, tumors and insulin resistance are also common health problems that a child with progeria might have throughout their life. There are no tests to confirm progeria; a doctor will only make a diagnosis based on the signs and symptoms. Some of the symptoms might not appear until your child is two years of age so diagnosis before then can be difficult. Since there are currently no treatments for the disease, the only thing a doctor can do is provide treatment for the many symptoms associated with the disease. Even though there is no cure for progeria, research is indicating that one might be on the horizon.
Researchers have found a possible link between progeria and regular heart disease that affects everybody as they get older. A new study from the American Heart Association finds that progerin, which is the abnormal protein that caused progeria, is present in people without the disease. The new study was published in the August issue of the Arteriosclerosis, Thrombosis, and Vascular Biology Journal. Progerin increases with age, except that in someone with progeria, it increases faster. There are very many similarities between the cardiovascular disease that affects people with progeria and the cardiovascular disease that affects millions each year. The presence of progerin in people without the condition could indicate that a general cardiovascular treatment could work. The study also gives reason to believe that progerin is a risk factor for atherosclerosis in the general population. The possibilities for treatment, following the study are great because of the finding of progerin. If the progerin is found in people without progeria then this could mean that a general heart medication could be used. The treatment could now focus on limiting the amount progerin that is released in the body. With this new study finding, being diagnosed with progeria might not be a death sentence for much longer.
Mayo Clinic Staff, “Progeria”, Mayo Clinic
Senior Journal Staff, “Rare Aging Disease in Children, Progeria, Linked to Aging in General Population”, Senior Journal
American Heart Association Staff, “Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging”, American Heart Association