New Book about a Family with Myotonic Dystrophy

There are not many books about myotonic dystrophy. There is a fictional series about a skater that has myotonic dystrophy. I wrote a short book about the hopes and aspirations of my son “The boy who was President”. Now comes a great biography about a family with Myotonic Dystrophy. A must read for all with the disease. Here’s a short introduction:

As a young girl, my constant goal was to help my brother, Dustin, walk. Dustin’s limits were hard to gauge because he constantly surpassed expectations. He was born with congenital myotonic dystrophy and expected to die, then to live three months, then three years. Instead, he gained strength and capabilities until age 13, when he had a simple cold and just did not wake up from his nap. His body became too much for the largest muscle in his body, his heart.

While Dustin was alive, I threw quarters in wells, prayed every night, and practiced with him every day after he had surgery and got corrective braces. I would stretch my brother’s legs, rotate his ankles, do resistance exercises and help him practice standing. At age 12, I thought willpower was so strong that, through perseverance and dedication, I could will my brother to walk.

Three years older than my brother, I grew up doing adult caretaking tasks. Through the years, I would change thousands of diapers, brush Dustin’s teeth, lift him into bed, administer nebulizer treatments, clean his feeding tube, watch him when both my parents had to work, bathe him, unload his wheelchair from the bus and play with him. Most things I did for my brother were helpful, but with my conceptions about willpower and Dustin walking, I pushed my brother past his comfort level more than once and caused more pain than progress. For me, a healthy sibling, willpower was a tool to push past obstacles. However, the same view I took of my young healthy body proved detrimental to my brother’s and caused him pain.

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FDA approved Chemotherapy Drug Might Treat Myotonic Dystrophy

In a stunning development The Berglund lab in Gainsville, FL has identified a potential treatment of myotonic dystrophy of a Chemotherapy drug Actinomycin D. In Both Cells and mice that were created to have myotonic dystrophy the drug used at or below levels that are used in human chemotherapy pushed back the Foci that are associated with the disease.

In theory this might be a treatment for myotonic dystrophy. This has not been tried in humans and would be highly risky but for people near end of life this may be a vector for them and their doctors to consider.

Researchers have previously identified what they think is the cause of the disease.In Myotonic Dystrophy the repeat expansion mutation is made into RNA but it does not get out into the cytoplasm. It remains trapped in the nucleus where it sticks to various proteins and appears as spots or foci that can be observed down the microscope. Because these proteins are stuck to the repeat RNA they cannot perform their normal functions correctly within the cell.

Researchers have found that to make progress with this disease, they need to “unstick” the proteins. This drug appears to do this in mice and cells.

Previously to the publication of this article there was no even theoretical treatment available. There are several drugs in development but this takes years of development. For those near end of life with this disease there is now a potential treatment. A copy of the article is here. This is something you may want to discuss with your medical team. Its untried and potentially risky with side effects. More information will be available shortly.

Myotonic Dystrophy Treatment

Please note the study is very technical. We are not recommending this to anyone but bringing all the current information to your attention

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Spanish BioTech Company Making Strides in Myotonic Dystrophy Research

I recently became aware of a new and exciting company working on a potential drug therapy in the Myotonic Dystrophy space. Valentia Biopharma S.L. is a biotechnology company born in August 2006 as a University of Valencia spin-off.

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Researchers Race for Myotonic Dystrophy Cure

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

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

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