Understanding the genetic condition of your child with DMD

Marie-Catherine Du Berger, President

Fondation La Force, Duchenne Muscular Dystrophy

In our family, the diagnostic hit on October 2013: our son Anakin is stricken with DMD.  The only thing I can compare this event to an atomic explosion… As parents, our hearts, as those of our loved ones, broke with suffering. I don’t want to dwell on the deep feeling of sadness we experienced. We gave birth to a beautiful child who has a genetic defect. We needed to delve into the mystery of this genetic defect. With a lot of determination and a bit of luck, we uncovered the exact nature of our son’s genetic condition. This knowledge now allows us to follow the research that can ultimately serve to treat his specific condition. Today I would like to share some of this knowledge so that you may to benefit from my journey.

 

Blood sample for further genetic testing

It was in the whirlwind of medical appointments that the matter of a biopsy was introduced in the discussions. I simply decided against this procedure as I found it too invasive. It was then proposed to me that we replace the biopsy by a third blood test, this time around for further genetic testing. I must admit that when I got the results, I didn’t understand the purpose: it was total gibberish to me!… My first reaction as an ordinary mom was to look for answers on the Internet … Result: even more gibberish!

 

Report decoded by an ally:  the Regroupement québécois des maladies orphelines”

Intuitively, the idea came to me to contact the Regroupement québécois des maladies orphelines” (the Quebec Coalition for Orphan Diseases). Thanks to them, I finally put the finger on my son’s specific condition: a so-called “nonsense mutation” that affects 13% of children with DMD. Following this discovery I realized that the most promising treatments tackle only one condition at a time. In short, a proper treatment for “nonsense mutations” will not work on another condition, and vice versa.

Knowledge: our greatest strength!

It’s hard to keep the hope when your child is sick, but it’s good to know that different forms of treatment are undergoing clinical trials as we speak. It is an important step to clearly identify and understand the genetic condition of the child. It allows us to gather strength and turn to the positive aspect of things brought about by current scientific advances. Unfortunately, parents are not systematically informed of the specific genetic condition of their child by the health system. The main objective of the La Force foundation is to encourage parents to become “Masters” of their own health and that of their child. Our mission is to inform people about research on DMD; and in the face of adversity, we believe that together we ARE The Force.