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Stephanie’s true passion is as a spokesperson for the National Organization for Rare Disorders (NORD®) and as an Executive Committee member for the Rubinstein-Taybi Family Research Fund. After winning Mrs. United States, Stephanie was recognized for her efforts with Rubinstein-Taybi Syndrome (RTS) on the floor of congress by proclamation from the Honorable John Dingell (D-MI). Her young son, Donnie is afflicted with (RTS), “A rare disorder isn’t rare when it affects someone you love.” It is believed that RTS has been diagnosed in fewer than then one thousand people worldwide. Like many rare diseases, RTS is not well researched. However due to a major break-through by Nobel Science Prize winner Dr. Eric Kandel, the RTS Families have new hope that their children will “come into the light.” Dr. Kandel found in his studies that the syndrome’s cognitive effects can be greatly improved. The RTS Family Research Fund has an informal agreement with Dr. Kandel to launch a three year project if roughly one million dollars in funding is raised.
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What is Rubinstein-Taybi Syndrome (RTS)?
Rubinstein-Taybi syndrome refers to a specific pattern of physical
features and developmental disabilities which occur together in a
consistent fashion. Individuals with Rubinstein-Taybi syndrome have
short stature, developmental
delay, similar facial features, and broad thumbs and first toes. The
condition was first described in 1963 by Dr. Jack Rubinstein and Dr.
Hooshang Taybi who recognized this pattern in seven unrelated children.
Since 1963, there have been over 400 individuals reported with the
Rubinstein-Taybi syndrome. Although the exact incidence is unknown, it
has been estimated that approximately 1 out of 300,000 persons has
Rubinstein-Taybi syndrome. The condition occurs with equal frequency in
males and females.
How do we know someone has Rubinstein-Taybi Syndrome?
Most children with Rubinstein-Taybi syndrome have a physical appearance
which is different from that of their family background at the time of
birth. The average age at the time of diagnosis of Rubinstein-Taybi
syndrome is approximately 15 months. It is often difficult to be certain
of the diagnosis at birth, and many children are not
recognized for several months or even years. There are no medical tests
which will aid in specifically diagnosing the Rubinstein-Taybi syndrome.
The only way to know if someone has the condition is by noting the
characteristic physical features. The facial features include a small
head size, thick scalp hair which may extend onto the forehead,
down-slanting eyes, prominent nose, small mouth, and a high-arched
palate. Additionally, the thumbs and first toes are broad and sometimes
angulated. Many of these physical characteristics have little
significance other than as clues for the diagnosis. The features may not
be obvious to family members or friends, but should allow the diagnosis
of
Rubinstein-Taybi syndrome to be made by a specialist in clinical
genetics and often by a pediatrician.
Rubinstein-Taybi Syndrome is included in those diseases considered as
"orphan". This is a label that is affixed to those diseases that
affect fewer than 200,000 nationwide. Because it is the number
diagnosed that determines whether a disease is an "orphan" one, this
label also covers those more well-known conditions such as Lou Gehrig's,
cystic fibrosis and Tourette's. It is not profitable for drug
manufacturers to address a cure because of the smaller number of those
afflicted with each disease. The major health concern is that even
though some syndrome sufferers have a population of less than 100 --
collectively they affect more that 25 million. It is not that we
as a nation are rarely afflicted, it is that we are afflicted by many
rare conditions.
Donations to the RTS Family Research Fund may be sent to: Kandel RTS Proposal C/O Wesley T. Helmbrecht Foundation 430 Foxdale Lane, Charlottesville, VA 22903