From the Desk – April 2005

MDA’s focus has always been to help improve the quality of life and give hope to the individuals and families who form our MD community. As the numbers of those families have increased over the years and their needs diversified with each individual circumstance, MDA has striven to diversify and add to its services in accordance with this, to help meet the needs of the changing demographic.

The need for support and respite programs to offer immediate relief to members of our community is undeniable. But underlying all of our activities is the need for a timely solution to the disorders that bring us all together as a part of the NMD community.

Research programs, institutes and centres, including the National Muscular Dystrophy Rresearch Centre, have been established in Australia and across the world with just that aim in mind. Significant advances have been made in recent years towards reaching this common goal and this provides us, our MD community with real hope.

April 2005

These discoveries have enabled scientists to make quantum leaps in their knowledge base in terms of understanding these disorders, their causes and the potential for isolating a corrective or preventative methodology to combat the disorders. But, like all great discoveries or innovations, their potential to benefit a real person in real terms is difficult to quantify until that benefit can be seen and experienced first hand or realised in tangible terms in the form of a cure, or at the very least, a corrective treatment.

What does the discovery of a link between dystrophin and MD mean for a family affected by MD? How can an innovation in detecting gene mutations benefit that same family?

At the Information-MD! 2005 Seminar that MDA hosted recently, I had great pleasure in hearing some very encouraging news from our scientists on the promising advancements that have been made in their studies over recent years. But on a more personal note, I had the privilege of being able to see just what those advancements have already meant and to one family in particular. For me it was a defining moment… for the family something far more significant. And the MDA played a small role in fulfilling the hopes and dreams of this family.

One of the world’s most innovative technologies was the topic of Dr James Marshall’s presentation on Pre-implantation Genetic Diagnosis. The technique, using IVF processes, is discussed in more detail on page 6 of Messenger, but for families with a known predisposition to a NMD, this technique can offer them the chance to have a normal, healthy baby – something that in many cases was not previously possible.

Maree and Stephen Inggall are two of our parents who have already benefited from this ground-breaking technique. In just a few days they are expecting their 3rd child, and their first to have been conceived using the PGD process. For the Inggall’s, who already have a son with SMA, the peace of mind that comes from knowing that their child will be born healthy and free of disability is, understandably, priceless.

For myself, an important and rewarding part of Information-MD! 2005 was being able to meet with a range of our members, and in particular those like Maree Inggall, who have been able to benefit directly from the recent advances in NMD research and technology. Seeing the difference that our continued dedication can make to our community has given me a renewed sense of motivation to push closer to our community’s common goal.

Ultimately, MDA’s goal, just like that of the many NMD support groups, associations, scientists and research centres around the globe, is to find a solution to neuromuscular disorders. And as an organisation, that is exactly what MDA continues to strive for. But in the meantime, every minor breakthrough, and every advance in research can offer real benefits and hope to our community, and ultimately bring us closer to achieving our collective hopes, dreams and aspirations…

Until next time!

Boris M Struk