Progress Makers

MDA families eager for research breakthroughs take active roles to accelerate therapy development and spread awareness of MDA's mission

From left (clockwise): Deb and Megan Assink at the 2006 MDA Telethon, Christopher Rosa, Vance Taylor and Torrance Johnson.
by Phil Ivory on July 14, 2015 - 3:19pm

Quest Summer 2015

Children and adults living with neuromuscular diseases are not only awaiting progress in the search for treatments and cures; they are directly supporting and advancing that progress in real and significant ways.

Christopher Rosa, University Dean for Student Affairs at the City University of New York (CUNY), speaks with excitement about the active, central role families are playing in advancing MDA’s research effort to find new treatments for muscular dystrophy, ALS and related life-threatening diseases. Like his younger brother, Gian, Rosa is affected by a form of muscular dystrophy.

“As families, we watch in great anticipation and eagerness the developments made by our world-class research and science program,” says Rosa, who serves on MDA’s Board of Directors. “We can’t afford to sit on the sidelines as highly interested fans and observers. We have an obligation and an opportunity to really impact this process and hasten the development of these lifesaving drugs.”’

Life-changing therapies

Drug development is one area in which participation by people affected by neuromuscular diseases is absolutely essential.

One example of a human clinical trial yielding life-changing results was the development of the drug Myozyme as a treatment for Pompe disease. Prior to the trial, Pompe disease, also known as acid maltase deficiency and one of the disorders under MDA’s umbrella, generally proved fatal for young children affected by it.

In March 2003, a little girl with infantile-onset Pompe disease, Megan Assink, enrolled in the Myozyme enzyme replacement drug trial being advanced by biopharmaceutical company Genzyme. Megan’s older sister Kelsey also had Pompe but died of the disease a year earlier. After losing Kelsey, Greg and Deb Assink of Grand Rapids, Mich., hoped something would be discovered to make a difference in Megan’s journey.

While not an MDA-funded trial, the Myozyme trial was made possible by foundational research funded by MDA. Megan, one of the first to try the experimental therapy, continued on the treatment once it was approved by the FDA in April 2006. (Note: Genzyme received permission from the FDA in 2014 to market its drug Lumizyme to all people with Pompe disease in the U.S., regardless of their age.)

Today, at age 13, Megan is a well-adjusted seventh-grader who enjoys cooking, sleepovers and “other normal teenage things,” according to her dad. She continues to receive the therapy and will do so for the foreseeable future.

“It has truly been life-changing,” says Greg Assink of the therapy. “I go to bed at night not fearing for something catastrophic related to this disease to happen to my daughter.”

Megan now uses a power wheelchair and must deal with debilitating aspects of the disease that persist despite the treatment. Nonetheless, her parents are delighted that Pompe’s life-threatening aspects do not loom over Megan as they did with Kelsey.

“Kelsey lived to be 9-and-a-half, and continued to need medical care, 24/7 nursing, suctioning and a ventilator,” recalls Greg. “Megan has never had to be on a ventilator. Think about that as a life-changing difference.”

More success stories like Myozyme are desperately needed. MDA’s long-term investment in basic and clinical research has contributed to more than 30 clinical trials in the past year alone for novel drugs and other therapies aimed at treating a broad spectrum of neuromuscular diseases.

Personal stories fuel progress

Torrance Johnson, 9, of Canton, Mich., has type 2 spinal muscular atrophy (SMA) and serves as a local MDA Ambassador. His mom, Katrina, says she and Torrance often confront a wall of misunderstanding about the realities people living with neuromuscular diseases face. For Torrance, the best way to counter that lack of understanding is to speak out and tell his story, which he does often at public events such as the MDA Muscle Walk.

“He loves public speaking,” says Katrina Johnson. “He talks to kids about what this disease can do to him and what he actually goes through on a day-to-day basis that people know nothing about.” 

Johnson is deeply proud of her son and feels that through his gift for communication he is helping advance research. “The more people understand, the more they will donate to fund research,” she says.

Many speakers, one voice

Another way families are influencing progress is by uniting in support of MDA’s advocacy and public policy efforts.

“MDA’s advocacy program is working with regulatory agencies like the [U.S. Food and Drug Administration]  to see what we can do to streamline the process and fast-track more promising therapies to market,” Rosa says.

Vance Taylor of Oxon Hill, Md., who has limb-girdle muscular dystrophy (LGMD) and is a principal at a security consulting firm, agrees that public advocacy is critical to accelerating therapies and believes MDA families belong front and center in that effort.

“Families are the front line of MDA’s effort to advocate for the tools, science and resources needed to advance research,” says Taylor, who has been a long-term voluntary adviser to MDA. “By partnering with MDA and sharing stories of hope and struggle with corporate sponsors, legislators and the general public, families are uniting to advance the cause of research like never before.”

Being counted counts

One powerful way MDA families can affect the pharmaceutical marketplace — and demonstrate that market potential exists for drugs to treat diseases that may not be widely understood by the general public — is for affected children and adults to be represented in patient registries, such as the MDA U.S. Neuromuscular Disease Registry.

Rosa believes that MDA families can collectively have a lot of influence in moving drugs to the market by helping MDA show who will benefit from a given drug and why families will buy it.

As MDA looks ahead, families will continue to help drive the therapy discovery process.

“At MDA, our goal is to move new drugs from the laboratory through FDA approval and ultimately to affected children and adults, and to do so as quickly as possible” says Grace Pavlath, Ph.D., MDA’s senior vice president and scientific program director. “Great progress is being made toward that end, and we’re deeply proud it’s being made hand in hand with our MDA families, whose essential participation will help speed delivery of effective therapies that will transform lives.”

If you are registered with MDA and would like information on participating in clinical trials or disease registries, visit or consult your MDA clinic director. To become involved in MDA’s national advocacy initiative, visit For other opportunities to support MDA’s mission, visit  

Phil Ivory is MDA’s senior writer for Marketing Communications in Tucson, Ariz.

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