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Stone Circle of
Friends News
A Complicated Condition, Stories of
Muscular Dystrophy
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Co.Henrico.VA.US
November 2009
RICHMOND
- Muscular Dystrophy is a complicated condition which can affect not
only muscle strength, but nerves, digestion and cognition as well. In
this program, HCTV explores the many distinct varieties of Muscular
Dystrophy, and how several families are dealing with the special
challenges of this complex disease.”
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Positive Exposure, Viewfinder
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PositiveExposure.org
November 2009
MANHATTAN BEACH, CA - Rick Guidotti
of Positive Exposure photographed MMD families for the 9th Annual
Myotonic Dystrophy Family Conference in Manhattan Beach, CA on October
3-4, 2009. The Myotonic Dystrophy Foundation in collaboration with The
Stone Circle of Friends sponsored Rick to take pictures of people with
MMD in his unique style at the conference.
Two donations to Rick, one from the MDF and the
other from Stone Circle of Friends, was our way of saying thank you for
being you and for making a difference in this world...
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Anna Pizzani, Girl Power
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Richmond.Skirt.com
January 2009
RICHMOND - Anna trained for two
months and signed thirty sponsors for the one-mile Kid's Run at the
Richmond Marathon. The seventh grader at Oak Knoll in Hanover had a
good cause in mind - raising research funds to cure Myotonic Muscular
Dystrophy. Anna, 12, was diagnosed with the degenerative disease which
attacks joints, muscles, and organs last year.
"She pushed herself so hard some days,
I'd have to slow her down," says her mom, Katherine. On race day, Anna
beat her personal-best time and raised over $2000 for research at
UVa."Right now, they can shut down the gene and reverse the illness in
mice,"says Katherine. "We're just so close."
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| Richard Honzo Takes Back His Life |
READ |
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RuninRich.com
October 13, 2008
RICHMOND
- I found the SunTrust
Richmond Marathon and signed up. Selecting Richmond also had many other
close personal reasons. In 2007 my niece who lives in Hanover was
diagnosed with Muscular Dystrophy. Both of her younger cousins that
live in Richmond also have the disease. The Stone family had started an
organization, Stone Circle of Friends, to help raise awareness and
money to find a cure....
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| Edibell Stone / Mom Warrior |
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Richmond.Skirt.com
September 2008
RICHMOND
- Skirt! magazine is a new
publication in Richmond and can be found outside of most Ukrop's stores
in a bright green newsstand. They heard of our efforts through one of
our supporters and published an article about my thoughts.
They asked
me to list my "5 rules for living." I based most of my answers on my
yoga practice (most of you know about my love for Bikram Yoga). So
check it out and if you would like send a letter or email to the
publisher. This will help us extend our exposure and raise further
awareness....
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| Local Effort Takes On Muscular
Dystrophy |
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DNRonline.com
December 21, 2007
HARRISONBURG
- A local businessman has
formed a foundation in the hope of partnering with SRI International to
find a cure for myotonic muscular dystrophy.
Giles Stone, owner of Mini-Stor-It
Self Storage in Harrisonburg, started the Myotonic Muscular Dystrophy
Foundation with his son, Todd Stone, after finding out his two
grandsons have MMD. No cure exists for the disorder....
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UVA Reports Surprising Findings
Related to Heart Protein in MMD
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Nature.com
December 16,
2007
CHARLOTTESVILLE
- New research from the University
of Virginia Health System
shows that, in cases of Type 1 myotonic muscular dystrophy (DM1), a
well known heart protein does several surprising things. DM1 is the
most common form of muscular dystrophy in adults and affects
approximately 40,000 adults and children in the U.S. The protein,
NKX2-5, is a biomarker
for heart stem cells. It is also very important for the normal
development of the heart. Too little of it causes major cardiac
problems including slow and irregular heartbeats, observes Dr. Mani
Mahadevan, a human genetics researcher and Professor of Pathology at
UVa who led the study.
The researchers were surprised to find
that mice and individuals with DM1 actually overproduce NKX2-5, yet
experience the same kind of heart problems associated with too little
of it. Excessive NKX2-5 may explain why as
many as 60 to 70 percent of individuals with DM1 develop heart problems
which cause their heartbeats to become slow and irregular, often
necessitating the need for pacemakers. If these irregular heartbeats
are not detected, sudden death can occur. By using the mouse model of
DM1 and
mice genetically engineered to produce less NKX2-5, Dr. Mahadevan and
his team showed that reducing the excessive levels of NKX2-5 seemed to
protect the mice from the heart problems.
Researchers were also surprised to
find NKX2-5 in the muscles of mice and individuals with DM1. Usually,
NKX2-5 is found only in the heart of adults, Dr. Mahadevan notes. It's
like the muscle is having some kind of identity crisis and starting to
make proteins that shouldn't be there normally. This discovery could
prove beneficial,
says Dr. Mahadevan, and lead to development of a simple diagnostic test
to follow a patient's response to potential therapies. Myotonic
muscular dystrophy is
recognized as the first example of a disease caused by a toxic RNA.
RNAs are intermediary molecules that convey the genetic code in the DNA
to the rest of the cell. RNAs are normally cut and pasted together by a
process called RNA splicing. It is currently thought that the toxic RNA
causes DM1 by disrupting normal RNA splicing.
"Much of the research on DM1 is
focused on factors that cause RNA splicing defects. Our work may
provide explanations for pathogenic effects not accounted for by RNA
mis-splicing, Mahadevan explained. In this current study, Dr. Mahadevan
and his colleagues built upon their groundbreaking research from 2006
which showed that toxic RNA causes DM1 and that getting rid of it
actually reversed the disease process. Their latest findings
demonstrate a new effect of RNA toxicity and how this may cause cardiac
conduction abnormalities.
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| 'Spirit of Advocacy' award recipients
named |
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Zwire.com
October 26, 2007
RICHMOND
- Children's Hospital presents two
"Spirit of Advocacy Awards" each year to recognize the efforts of those
advocating for the health care needs of their own child, or the broader
needs of children in the community. The first award is presented to a
family or family member of a Children's Hospital patient. The second
award recognizes a community partner or professional for using their
professional knowledge and resources....
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Todd Stone
talks about MMD
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WRVA
Interview
June 14, 2007
RICHMOND
- On a local talk show, Todd Stone talks about the forming of the
"Stone Circle of Friends" and their efforts to help Mani Mahadevan, at
the University of Virginia, further his research into Myotonic Muscular
Dystrophy....
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| The Good Fight |
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Richmond.com
May 30, 2007
RICHMOND
- Barely two months ago, the Stone
brothers, Nicholas, 9, and Elliott, 7, received a devastating
diagnosis: myotonic muscular dystrophy.
MMD, the most common form of adult
muscular dystrophy, is a genetic disease that causes progressive
wasting of the muscles of the face, neck, hands and feet and of the
organs, including heart, lungs, digestive system and brain. There is no
treatment or cure yet....
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| Edibell Stone Podcast |
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Fighting
Back
April, 2007
RICHMOND
- Edibell Stone talks on "Fight SMA" about myotonic muscular dystrophy
and how it has affected her family and how this has motivated her to
move forward....
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Pump It Up To Host MMD Fundraiser
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DNRonline.com
April 24, 2007
HARRISONBURG
- Donna and Giles Stone
discovered last year that their two grandsons have Myotonic Muscular
Dystrophy, a disease that leads to deterioration of muscle and internal
organs....
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