Stone Circle of Friends
Stone Circle of Friends News

A Complicated Condition, Stories of Muscular Dystrophy

November 2009

HCTV Channel 17RICHMOND - 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.”

Positive Exposure, Viewfinder
November 2009

Positive ExposureMANHATTAN 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...

Anna Pizzani, Girl Power
January 2009

AnnaRICHMOND - 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."

Richard Honzo Takes Back His Life READ

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....

Edibell Stone / Mom Warrior
September 2008

Skirt!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....

Local Effort Takes On Muscular Dystrophy

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....

UVA Reports Surprising Findings Related to Heart Protein in MMD
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.

Natural GeneticsThe 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.

'Spirit of Advocacy' award recipients named

Zwire.comHenrico County Leader
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....

Todd Stone talks about MMD

WRVA Interview
June 14, 2007

ToddRICHMOND - 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....

The Good Fight
May 30, 2007Goodfight

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....

Edibell Stone Podcast

Fighting Back
April, 2007

EdibellRICHMOND - 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....

Pump It Up To Host MMD Fundraiser
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....