Medical update

On May 25th Jocelyn had a blood draw for genetic testing to see if she is a carrier of the DMD gene. The test results came back postive stating: Mutation detected. A deletion mutation in the DMD gene empassing exon 46 was detected.

Carriers of Duchenne muscular dystrophy (DMD) usually do not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD gene mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD gene mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.

Another complication is now Jocelyn's children have a 50/50 chance of being effected by the disease. Jocelyn is a nurturing little girl. Since I can remember she has talked about one of her main goals in life is to grow up and start a family. It breaks my heart that now she will have some hard decisions to make in order to become a mom.

We have not told her the results. We are going to wait for her to ask. I'm worried about telling her. I hate that she will think about it for several years to come. I just want her to be a kid and not have to worry about something that will effect the rest of her life.