Six Things I Have Learned While Raising Two Boys with SEPN1 Related Myopathy
The questions “Why?” and “Why me?” cannot be answered. Some people might try to explain our situation away with religion, karma, or luck, but I find those answers to be trite and insufficient. The chances of two people with the same rare mutated gene falling in love, getting married, and having children is hard to calculate. Sometimes life just is.
There are a lot of wonderful, good hearted people in this world. Our family has received irreplaceable support from family, church family, friends, doctors, researchers, and caregivers who only want the best for our boys. These people have opened their hearts to us, listened to us, rooted for us, and continue to stand by our side.
There are a lot of jerks in this world. Sometimes people don’t mean to be jerks nor act maliciously. They simply don’t know what to say or do when faced with our hard reality. But sometimes people don’t care about anyone but themselves. They will do anything in the name of self preservation, and they don’t care who they hurt in the process.
Doctors don’t know everything. I routinely have to explain our sons’ disease to medical professionals who are not on our regular team of doctors. They have never heard of SEPN1 related myopathy. Early on I thought they were bad doctors, but this isn’t the case. They’ve never heard of it, because it is ultra rare. With over 7,000 rare diseases, no one could possibly know about every single one. Plus this disease (like much of science and medicine) is constantly unfolding. We are all learning as we go as genetic technology changes and advances. As long as we have doctors who are willing to learn, we are on a good path.
I will never know what it is like to have SEPN1 related myopathy. Like all parents, I cannot walk the road my children must walk. They will face many obstacles and life events that I will never face. My experiences will not be their experiences and vice versa. This fact is devastating to me because of course I want do the hard stuff for them. I’m learning to accept my limitations.
I am one bad ass mother. I have summoned strength I never thought I had. I have lived through situations that I thought were impossible. I’ve had a tremendous amount of help and support, but when it comes down to it I’m their mother and the only one who can do certain things for them. So, watch out. This momma bear is always on the prowl.
