I have asked myself that question many times. During the diagnosis process I kept asking if I should be tested or if his brother’s should. We knew from our research that the mother is the carrier and it almost always affects boys. While the other 2 weren’t exhibiting any symptoms, we really didn’t think Peyton was either. We were told to wait until he was officially diagnosed.
Maybe we were in denial but the things we thought were cute, were actually symptoms. Peyton has the cutest calf muscles. They are hard as a rock. His back muscles are the same. He had 6-pack abs at the age of 3. He was smaller than his peers, had large calf muscles and walked on his toes. Otherwise he didn’t have any physical or developmental delays. Come to find out, large calf muscles and toe walking are classic symptoms of DMD.
Once Peyton was diagnosed the cardiologist met with me. I needed to be tested as my health would be at risk should I be a carrier. Peyton was born with no dystrophin in his body which is why his muscles will weaken over time. He doesn’t have the protein that regenerates his muscles so they turn to fat. As a carrier, that would mean I have half the dystrophin in my body that I need which would put me at risk for heart disease. I would have to be monitored closely and put on medication. All the women in my bloodline would need to be tested too. I racked my brain to think of anyone in my family who might have had something similar that may have been DMD but called something different. My family members couldn’t think of anyone either. I was the first person in my family to have a boy in many generations…maybe that is why?
Not only was I freaked out about the possibility of having a heart condition as I need to be around to take care of my babies (all of them) but I was sad that I didn’t know there was a possibility I could pass this to my children. The babies I carried in my body, making sure I did everything I could to help them grow strong and healthy before entering the world, yet I let him down. Trust me this is an emotional roller coaster.
Then came the difficulty of actually getting tested. I won’t bore you with the details but it took months to get it through the system. Then it took another couple weeks for the lab to figure out how much blood they needed and who they needed to send it to. I’m glad they don’t give this test often but I was wearing down trying to figure out what happened to my baby.
Finally I had the blood test done. The results came back negative. Basically, I am not a carrier. Peyton’s DMD is the result of a random genetic mutation. Although it makes me feel somewhat better, the fact is, my baby still has a devastating disease and there was no way I could have prevented it nor can I cure him.
We may never know why, but it doesn’t really matter. The real question is, what do we do now? I wish I knew. We are just doing the best we can.