Researchers Race for Myotonic Dystrophy Cure

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Race for the Cure for Myotonic Dystrophy

Race for the Cure for Myotonic Dystrophy

Myotonic Dystrophy may be the first of the muscular Dystrophy to have a definitive cure established. In the last few years researchers have isolated the issue they believe causes myotonic dystrophy. In the last couple of years therapies that have targeted this problem have reversed the disease in cell and animal models. This has set up a race now for researchers to refine the therapeutic compounds and begin with human trials to see if the animal to human therapeutic transfer works as it is believed to. Thus, this would lead to the first potential cure for a type of muscular dystrophy.

The Myotonic Dystrophy Foundation (MDF) in Menlo Park, CA  has taken a lead in assisting researchers with moving forward with this disease elimination process with funding and assistance in establishing a patient registry. The MDF was the early funder of a new Research Collaborative effort lead by Charles Thorton out of the University of Rochester. The foundation has also  been instrumental in educating patients and physicians in this complex and slowly progressing disease that results in premature death. A patient conference is planned for early November of 2013 in Houston, TX

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Celebrating the Life of Sheila Hollern

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I was just informed of the passing of Sheila Hollern who is a relative of Jeremy and Erica Kelly, both instrumental in the Myotonic Dystrophy Foundation. Its so sad to see these deaths when we fervently hope that a cure is around the corner. Our thoughts and wishes are with the family members and we will continue the fight to find a cure for this disease that slowly and quickly takes loved ones away

Sheila Brooks Hollern

Last modified: January 16. 2013 12:11PM PST

Sheila Brooks Hollern passed away peacefully in San Francisco on January 15 from cancer and post-surgical complications from Myotonic Dystrophy.  She was 48.

Sheila was born in Palo Alto, California and grew up in Bend.

Sheila spent most of her life in Marin County, California where she volunteered her time at the Cedars Development Foundation and Marin General Hospital.

Sheila spent many happy hours surrounded by friends who entertained and were entertained by her and had a loyal following of family, friends, relatives and dear girlfriends who shared her life in San Anselmo.

Sheila took great pride in decorating her apartment, where every inch of her walls were covered with photos and memories of a happy life.  She enjoyed traveling with her family and her boyfriend of 25 years, Brad McKinsey. Sheila was devoted to her family, her many friends and especially her beloved cat, Midnight.

Sheila is survived by her parents, Mike and Sue Hollern; her brother, Chris Hollern; her sisters Erica Kelly (Jeremy Kelly) and Leslie Lynch (Gene Lynch) and six adoring nieces and nephews.

A private, family remembrance is planned.

In lieu of flowers, donations would be gratefully accepted by Lifehouse, a Bay Area organization dedicated to helping people with developmental disabilities. Lifehouse was instrumental in making Sheila’s life happy and productive. Their address is 899 Northgate Drive, Suite 500, San Rafael, CA 94903 or donations can be made online at lifehouseagency.org.

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No sign of Congenital Form of Myotonic Dystrophy in DM2

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There have been a few questions on the blog about the congenital form of Myotonic Dystrophy and whether this occurs in DM2 patients as well as in DM1 patients. Toba in Canada is the resident expert on DM2 and runs the yahoo groups DM2 but I did find this older article from 2006 on this subject and am posting it here.

Outcome and effect of pregnancy in myotonic dystrophy type 2
10.1212/01.wnl.0000198227.91131.1e Neurology February 28, 2006 vol. 66 no. 4 579-580

  1. S. Rudnik-Schöneborn, MD, et. al Address correspondence and reprint requests to Dr. Sabine Rudnik-Schöneborn, Institut für Humangenetik, RWTH Aachen, Pauwelsstr. 30, 52074 Aachen, Germany; e-mail: srudnik-schoeneborn@ukaachen.de

Abstract

The authors reviewed the obstetric histories of 42 women of 37 families with myotonic dystrophy type 2 (DM2). Nine women (21%) had the first symptoms during pregnancy and worsening in subsequent pregnancies. Of 96 pregnancies, 13% ended as early and 4% as late miscarriages. Preterm labor occurred in 50% of pregnancies resulting in 27% preterm deliveries in women with overt DM2 in pregnancy. There was no evidence of a congenital DM2.

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Fact sheet on Congential Myotonic Dystrophy English and Turkish

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The Muscular Dystrophy Association in Australia is providing information on Congenital Myotonic Dystrophy in English and has recently translated this information into Turkish. Here is a link to both these brochures!

Congenital Myotonic Dystrophy Brochure

Congenital Myotonic Dystrophy Turkish

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Myotonic Dysrophy Affects over 10 Members of One family

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Editors note: This is a great article from 2009. Please click on this link to read the article. If it is not available read the summary below:

How muscular dystrophy cruelly affected 10 of my close family, by MP Dave Anderson

By Dave Anderson, Mp For Blaydon, Tyne And Wear
UPDATED: 17:33 EST, 10 October 2009

Dave Anderson MPFight: Dave Anderson is calling for more resources

My brother Bill played an immense role in my life. For one thing, he gave me my love for music. In 1962 he was bringing home Marvin Gaye records while our friends were listening to The Bachelors. And we were there together, in July 1969, when the Rolling Stones took over Hyde Park in front of thousands.

He taught me to drive and he gave me my love of the outdoor life. He convinced me to go into mining and told me about an opportunity to gain an international scholarship – both of which put me where I am today.

When, in 2001, I was made vice-president of Unison, at that time the biggest union in the country – where I stayed until being elected as a Member of Parliament four years later – my wife organised a surprise party for me. We had a great time, but the joy was muted as Bill was no longer around to share my pride.

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