PROGERIA RESEARCH PAPER

Progeria Research Paper

Alexus Jones
Intro to Special Education
Research Paper
Due: Tues. October 21st, 2014

Hutchinson-Gilford Progeria Syndrome was first described in 1886 by

Dr. Jonathan Hutchinson and then later in 1897 by Dr. Hastings Gilford. Dr.

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Jonathan Hutchinson documented the features of a six year old boy who had
a wizened old man facial appearance, premature bodily aging, dwarfism,
congenital absence of the hair, and atrophy of the skin. He induced the term
progeria from the Greek word meaning prematurely old. In Dr.
Hutchinsons case report published in 1904, he included photos of the child
from infancy to the age of 17 years in which the fat loss and premature aging
were clearly depicted (Hutchinson-Gilford Disease).
Hutchinson-Gilford Progeria Syndrome is an extremely rare but fatal
disease that causes premature aging. Similar to down-syndrome children,
children with Progeria all look similar to one another despite different ethnic
backgrounds. Typical physical traits of children with Progeria consist of:
dwarfism, baldness, pinched nose, small face, wide opened eyes, irregular
dentition, undersized clavicles, absence of sexual maturation, and small jaw
relative to their head size (Progeria). They have high serum lipid levels. It is
also said that they have bird-like features (Hutchinson-Gilford Disease).
Most babies that are born with Progeria are actually very healthy looking
babies. As they grow to be 18-24 months, however, symptoms of accelerated
aging start to become more and more noticeable. Signs of Progeria include
loss of body fat, stiffness of joints, skin changes, hip dislocation, eyelashes
are lost, continuous loss of hair until baldness occurs, growth failure, and
very high pitched voices. Their skin becomes very translucent and veins are
easily seen through it (Sinha).

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The intelligence of children with Progeria is unaffected despite their

physical changes. Those with Progeria suffer from atherosclerosis, high blood
pressure, and strokes. The average life expectancy for children with Progeria
is 8-21 years. Survival of this disease has been recorded up to 26 years old.
The death of those with Progeria is ultimately caused by heart failure, stroke,
myocardial infraction, or cardiovascular disease. Currently, there are 118
children in 41 different countries diagnosed with Hutchinson-Gilford Progeria
Syndrome as of June 30th, 2014 (Moore). There is currently no known cure for
this disease and the cause of it is still very much a medical mystery.
As for medical advancement, the Progeria Research Foundation started
looking for answers involving Progeria in 1999. It was founded by two
parents, Drs. Leslie Gordon and Scott Berns who happened to be the parents
of a child with Progeria. Their mission is: to discover treatments and the
cure for Progeria and its aging-related disorders. Today, it is the only nonprofit organization dedicated to finding treatments and the cure for Progeria.
85% of their annual expenses are consistently used for its programs and
services. They focus on the discovery of the Progeria gene and the first
ever Progeria drug treatment. The Progeria gene, was discovered in April of
2003. The gene found responsible for causing Progeria is called LMNA
(pronounced lamina). There is a mistake in the DNA sequence of those with
progeria in the LMNA gene called a point mutation. The LMNA gene usually
produces a protein called Lamin A. It is located in the cell nucleus and helps
maintain the function and shape of the cell. It is an important protein for

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most of the cells in our bodies. For those with Progeria, the LMNA mutation
makes an abnormal Lamin A protein called progerin. Progerin builds up over
the years in their blood vessel, skin, and bone cells causing the unfortunate
disease (Moore). The discovery of progerin helps for better understanding of
why the children with Progeria grow old before their time.
According to the Progeria Research Foundations website, the clinical
drug trials bring children from all around the world in the hopes of improving
their disease and extending their lives by at least 1.6 years. In 2012, history
was made with the discovery that a farnesyltransferase inhibitor, or FTI, is a
treatment for Progeria and more recent studies have shown that FTIs do in
fact extend lifespans. The FTI was originally developed to treat cancer. 28
children from sixteen countries participated in the drug trial that lasted 2
years. When the trial started, 75% of the worlds known cases of Progeria
were represented. The children all traveled to Boston every four months for
medical testing and study testing. Each child who has been given the
treatment so far has shown in improvement in one or more of four ways:
gaining weight, better hearing, improved bone structure, and or increased
flexibility of blood vessels (Moore).
The Progeria Research Foundation is continuing to explore other
promising drugs as treatments for these children and they also have
expanded the FTI trials so that all children with Progeria can participate and
have access to a drug that will give them a longer, healthier life. In the
thirteen years since the Progeria Research Foundation started, they have

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raised $17, 737, 441 (Moore). With the discoveries made surrounding
Progeria, more is learned about the heart disease and aging that inescapably
affects us all. On their website, there is actually a movie that has been
released called Life According to Sam about a boy named Sam with Progeria
and the trials he has gone through. The movie actually won an Emmy and it
comes on HBO. The film raises awareness for Progeria and sends messages
of love, determination, and hope for children with Progeria.
The Progeria Research Foundation has organized 11 scientific
conferences that bring together scientists and clinicians from all over the
world. They collaborate to share their scientific data and expertise to find
solutions and cures for this deadly disease. The Progeria Research
Foundation has also funded projects throughout the world that have led to
important discoveries throughout the world about aging, Progeria, and heart
disease. Their volunteer Medical Research Committee will grant up to
$100,000 per year for three years to continue this type of research. The
discoveries made by the Progeria Research Foundation are published in the
best of scientific journals. Since 2002, the average number of scientific
publications is more than 20 times that of the previous 50 years. This is
because that before this foundation, not a ton of research of knowledge was
there about the Progeria disease. In order to keep the information
surrounding Progeria available to those throughout the world, the Progeria
Research Foundation has a translation program that translates the program
and medical care materials in 26 different languages (Moore).

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Progeria really impacts the families and friends of those who have the
disease in a terrible way because they know that when they have a child
with the disease, their days are numbered that they will get to spend with
them. The children with Progeria are all normal kids despite their disease.
They like doing the same things as other kids, like watching T.V., playing
sports, etc. and they also have to do chores just like every other child. A little
girl in South Africa named Ontlametse Phalatse was diagnosed with Progeria
and still lives a fairly normal life, despite her father abandoning her family
when she was three. She attends public school and not all the kids are nice
to her but she does have a couple friends. She participates in the Progeria
Research Foundations treatment drug trials in Boston and flies there on each
school holiday. Her mother is unemployed and so Ontlametse and her mother
both survive on her government disability allowance. When interviewed in
2011 at age 12 she was asked what she wants to be when she grows up and
she responded with, I would like to be a psychologist so that I can work on
the problems of other people and so that they can accept the way that they
are because they can see that I accept the way I am (Faul).
As for me personally, I chose the topic of Progeria because for a few
years now, I have followed a little girl named Adalia Rose on FaceBook
through her video posts. She has Progeria but she is the most positive little
girl. She has several wigs that she wears because of her lack of hair. Her
story has really touched my heart and made me sympathize for children with

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Progeria. It shocks me that so little research has been done about Progeria
until recently and no cure has even been discovered.
Basically for all children born with Progeria, it is a death sentence. I can
only imagine how heartbreaking that must be for their parents. They have to
watch their child age way before their time and no parent should ever have
to know that they are going to definitely outlive their child. With an average
of about 13 years of life, that is nowhere near enough time to experience
everything that this world has to offer. In the case of Adalia Rose, I know that
her mother tries her best to make every day special for her and she has
many fans that watch her YouTube videos that she calls her friends. I think
it is great that she reaches out through social media to make the world more
accepting of people who look a little different. I hope that someday a cure for
this disease is found because even though it is rare, it has a 0% survival rate.

Works Cited
Faul, M. (2011, September 12). Black child with aging disease hopes for future.
Retrieved October 20, 2014, from
http://www.nbcnews.com/id/44442533/ns/health-childrens_health/t/blackchild-aging-disease-hopes-future/#.VER2rm3n_IU
Hutchinson-Gilford disease. (n.d.). Retrieved October 12, 2014, from
http://www.whonamedit.com/synd.cfm/1911.html

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Moore, A. (2014, October 10). Progeria Research Foundation. Retrieved October 19,
2014, from http://www.progeriaresearch.org/index.html

Progeria. (2008). In Webster's new world medical dictionary. Retrieved from

http://ezproxy.library.csn.edu/login?qurl=http%3A%2F
%2Fsearch.credoreference.com%2Fcontent%2Fentry%2Fwebstermed
%2Fprogeria%2F0
Sinha, J., Ghosh, S., & Raghunath, M. (2014). Progeria: A rare genetic premature
ageing disorder. Indian Journal Of Medical Research, 139(5), 667-674.
http://web.a.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=a540feca-d5f541b8-bfc2-f8abcfe83ee7%40sessionmgr4005&vid=5&hid=4101