Two and a half years ago, I had heard about muscular dystrophy, but knew no other information about it. We had known that Cade had some struggles with running, coordination, jumping, and going up stairs, but didn’t yet know why. Then came the mention of muscular dystrophy.
I didn’t even know anyone with muscular dystrophy and only knew of Cade’s muscle problems. How does one even go about getting a diagnosis when you don’t even know what “it” is? Since that time, I have come to be well versed in all things Duchenne and specifically in advocating for Cade’s needs.
Duchenne is a genetic disorder with progressive loss of muscle. It affects multiple systems in your body including skeletal, heart and lung muscles. Duchenne is caused by a mutation in the gene that encodes for dystrophin, the protein that is necessary for proper functioning of muscles. In order for a person to make dystrophin, a complete set of exons is necessary and in the right order. Cade is missing exon 45. It’s like doing the wave but having a hole right in the middle. The wave tries to continue on after but things get a little messed up.
We did a blood test in Gothenburg to begin to confirm our suspicions to check his CK level. If it is elevated that would mean we would need to do further testing. We were referred on to Children’s Hospital Colorado where a genetic test was administered and we confirmed our greatest fear. We were fortunate to not to have to undergo a muscle biopsy to confirm though.
The genetic mutation for Duchenne is carried on the X chromosome which means that it is passed on through the mom. Approximately 2/3 of the time Duchenne is genetically passed down through the carrier mom, however, 1/3 of the time it just randomly occurs. I have undergone the genetic testing and I am not a carrier.
So on Saturday, if you think about it, when you see anything about red balloons being released, it may be regarding World Duchenne Awareness Day. September 7 of every year marks the one day where our superheros get recognized. The first release was of 79 red balloons representing the exons within the dystrophin gene. It has now become a symbol of hope, awareness and unity for these boys and their families.
I was going to try to figure out a way to make red balloons and have them put up around the school or an event to release red balloons at, but that will have to wait for next year. For this year, we ask for prayers to be released instead!