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Abby Honeycutt

Ms. Brimm, Master of Education

Freshman Honors English

February 16, 2010

Progeria- Old Before Your Time

Progeria is an extremely rare and fatal genetic disorder that causes rapid,

premature aging in children. Though presently incurable, and for a large part untreatable,

researchers are just now beginning to decipher and understand its genetic secrets, meaning that

hope for better, improved treatments may soon be on the horizon. First examined and studied in

the late nineteenth century, Progeria has remained a near mystery to modern science and

medicine up until the present day (Gulli 4). Now, with more knowledge of the disease and the

effects it has on those who suffer from it, we are finally able to understand what it is that causes

this tragic condition, and hopefully provide answers for the individuals and their families

affected by it.

Though children with Hutchinson Gilford Progeria almost always appear

perfectly normal at birth, the first signs of the disorder usually begin to present themselves by

about the time the child reaches twelve months of age. These usually include early signs of

premature aging such as irregular skin changes as well as hair loss (³Progeria´). After several

years, the symptoms of progeria are no longer subtle, and the patients begin to develop more

severe signs. In general, all children diagnosed with the disease very strongly resemble each

other. They are always short in stature, their height exceeding no more than 3.7 feet. In
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addition, these children weigh less than recommended for their height, generally weighing in at

less than forty pounds. Also, the patients all exhibit normal signs of aging, except in their case,

at an accelerated rate. These symptoms include: alopecia, which is hair loss, the presence of

little or no fat under the skin, very prominent scalp veins, a very small face and jaw, a pinched

nose, a high-pitched voice, delayed formation of teeth, and impaired or no sexual development of

any kind (Gulli 4). Though the physical symptoms of progeria are very severe and noticeable,

the disease has no effect whatsoever on the emotional and mental development of those affected,

as many of the patients have been found to have above average intelligence. This also means

that these children are perfectly capable of forming relationships and experiencing the same, if

not a greater, range of feelings and emotions than those living without the disorder (Laberge).

One of the chief questions raised about progeria, is how it is passed down to

from parent to offspring, seeing as it always occurs in families that have no history of it on

record (Laberge). This is because unlike most genetic mutations, Hutchinson Gilford Progeria is

not inherited through family lines, but is a gene change that is the result of a random occurrence

believed to affect a single egg or sperm cell immediately before conception. What this means is

that since the gene mutation was an act of chance, neither parent involved is a carrier for progeria

(³Progeria´). Once this gene is received, however, it has been found to be autosomal dominant,

meaning that only one copy of the mutated gene present in each cell is enough to cause the

disease. The ultimate cause of Hutchinson Gilford Progeria has been discovered to be a defect in

this gene called LMNA, which is responsible for producing several structural proteins that are

necessary components of the cell¶s nuclear envelope, which surrounds the nucleus of the cell.

Researchers have recently determined that it is the defective LMNA gene that is responsible for

producing a mutated version of the structural protein called lamin A. This altered protein causes
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the nuclear envelope to become fragile and unstable, progressively damaging the nucleus of the

cell. This can make the cells die prematurely, ultimately leading to and explaining the

phenomena of premature aging in children suffering from progeria (Laberge).

Hutchinson Gilford Progeria is incredibly rare, and is reported to affect only 1

in about 4-8 million babies born. There is no pattern that can determine what children it will

affect, since cases of it have been reported in both sexes as well as all races on an entirely equal

level (Laberge). To illustrate just how rare a condition progeria is, records show that only fifty-

four children in the world today are affected and living with this disease (³BRIEF: Local Child

Brings Attention«´)

When diagnosing a progeria patient, physicians will first observe the child¶s

physical appearance. This diagnosis is generally made before the child¶s second year of life,

physicians base their conclusion on the patient¶s skin conditions and their obvious failure to

grow (Gulli 4). Once observing these and the other physical signs of accelerated aging,

clinicians can then run general tests to detect the mutated LMNA gene known to cause the

disease. Researchers will next evaluate the patient¶s medical records, and for a final result,

doctors can test the child¶s blood for absolute certainty of the defective progeria gene (Laberge).

Since this genetic disorder is so uncommon and unrestricted to any specific

area, forming support groups for Hutchinson Gilford Progeria can be rather difficult and futile

for the affected children and their families. This being said, however, many children diagnosed

with progeria make it a personal mission to help educate and inform the world on their rare

condition as well as participate in efforts to find a cure for it. Oftentimes, these children will

appear in widely viewed media reports as well as factual documentaries, telling their stories of
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suffering and determination to move out into the light and into the hearts of the world (³Alberta

teen dies«´).

Though children with progeria have been known to live anywhere from seven

to twenty-seven years of age, the average life expectancy for a normal progeria patient is thirteen

years (Laberge). The most widely-suspected cause of death for children with progeria is usually

related to, if not the direct cause of severe atherosclerosis. This is the term for when their artery

walls thicken and stiffen, often restricting the patient¶s blood flow, increasing blood pressure,

and causing severe problems such as congestive heart failure, heart attack, and stroke

(³Progeria´). In every case, the patient¶s cause of death is due to symptoms consistent with

accelerated aging, which we know is the ultimate result of Hutchinson Gilford Progeria (Gulli 4).

As of right now there is no known cure for progeria. Sad as this is, most of the

treatment provided for the patients can only go to alleviate some of the physical complaints they

have as well as a means of psychological support (Gulli 4). In all cases, it is encouraged that the

children be closely monitored for symptoms of heart disease, as well as regularly observed by a

neurologist, dermatologist, cardiologist, and a pediatrician in order for them to receive the most

advanced, best care possible (Laberge).

In 2003, scientists were ecstatic to announce their discovery of the LMNA

gene, and the protein lamin A, which are thought to be the cause of the disorder. This was, they

felt, the first step to finding a cure for the disease because it gave them a place to finally begin

searching for answers. Five years later, the finding of the gene found to be the cause of progeria,

led researchers to try out an experimental FTI drug known for treating cancer, on children

diagnosed with the disease. In their mouse models of the experiment, the drug amazed scientists
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with its ability to prevent, and in some cases, reverse severe cardiovascular damage that would

have initially been fatal. This astounding discovery has excited the scientific and medical

community both, in the hope that a cure for Hutchinson Gilford Progeria may be attainable in the

near future. Extensive research on a number of possible cures and treatments are still being

done, and hope for children with progeria has never seemed more fitting (³In Just Five Years,

Gene Discovery«´)

Though progeria is a dreadful, heartbreaking disease that causes young

children to age before they really begin to experience life, researchers must not quit studying and

neither do people need to stop supporting the children whom this disorder affects. With

scientists working around the clock to find a cure, and the children who suffer from it, every day,

fighting the disease and somehow maintaining a positive outlook on life, it is important everyone

remember how blessed and fortunate they are. All in all, society can learn a lot from these

children. They demonstrate the true definition of courage as well as what it really means to

never ever give up. They make it impossible for people to take their time on this earth for

granted, all the while stressing how important it is to make the most of every day they are given.

In addition, an effort needs to be made to remember those affected who do not have this same

opportunity. These few deserve to be honored by every day, normal people who have the ability

to join in these individuals¶ hope for a brighter future, as well as continue in their legacy by

being a voice for these children while their own are so rapidly and tragically silenced.
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Works Cited

³Alberta Teen Dies of Premature Aging Disease.´ The Canadian Broadcasting Corporation

(CBC) (April 23, 2009): NA. General OneFile. Gale. Tennessee Electronic Library-TEL.

20 Jan. 2010 <http://find.galegroup.com/gps/start.do?proId=IPS&userGroupName=

tel_s_tsla>.

³BRIEF: Local Child Goes on TV to Bring Attention to Her Rare Disease.´ Blade (Toledo, OH)

(Dec 12, 2009): NA. General OneFile. Gale. Tennessee Electronic Library-TEL. 20 Jan.

2010 < http://find.galegroup.com/gps/start.do?proId=IPS&userGroupName=tel_s_tsla.>

Gulli, Laith, MD, and Nicole Mallory, MS. ³Progeria Syndrome.´ Gale Encyclopedia of Genetic

Disorders. Ed. Brigham Narins. Vol. 2. 2nd ed. Detroit: Gale, 2005. 4 pp. 2 vols. Gale

Virtual Reference Library. Gale. Tennessee Electronic Library-TEL. 19 Jan. 2010 <http://

find.galegroup.com/gps/start.do?proId=IPS&userGroupName=tel_s_tsla>.

³In Just Five Years, Gene Discovery to Clinical Trial of Potential Treatment.´ NewsRxHealth

(Jan 4, 2009): 123. Health Reference Center Academic. Gale. Tennessee Electronic

Library-TEL. 20 Jan. 2010 <http://find.galegroup.com/gps/start.do?proId=IPS&user-

GroupName=tel_s_tsla>.

Laberge, Monique, PhD, & Jacqueline L. Longe. ³Progeria Sydrome.´ The Gale Encyclopedia of
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Medicine. Gale, 2008. NA. Academic OneFile. Gale. Tennessee Electronic Library-TEL.

20 Jan. 2010 <http://find.galegroup.com/gps/start.do?proId=IPS&userGroupName=tel_s_

tsla>.

³Progeria.´ Mayo Clinic. 20 Jan. 2010. <http://www.bing.com/health/article/mayo-118681/Prog-

eria?q=progeria&FORM=K1RE>.