When I think back to my childhood, there are specific memories and moments that stand out. When I go back to the time before I knew I was a carrier for a rare neuromuscular disorder, there are very clear times that I questioned myself and wondered why I was slightly different than my siblings. They say ignorance is bliss, but I challenge that saying. Ignorance can be very confusing in the world of rare disease, especially for “carriers” or women patients of x-linked genetic disorders. My siblings, we know now, are unaffected and non-carriers of Myotubular Myopathy (MTM), a rare neuromuscular genetic condition that was thought to affect only boys, I wasn’t diagnosed as a “carrier” for MTM until my second son was born in 2017, which is, unfortunately, a common way most women find out their x-linked genetic carrier status.
Caleb came into this world early and with many complications. After 4 months in the NICU, we got the results of his whole exome sequence genetic test which confirmed the MTM diagnosis, and in correlation, my own carrier status of the genetic disease. As the variant is located on the X chromosome, my future children have a 50% chance of receiving that X chromosome from me. In theory, boys would be affected with the disorders and girls who have two X chromosomes, would be “carriers.” There is growing knowledge in the community of rare disease, that female “carriers” are not just carriers and can have and develop symptoms of the disease as well. Upon educating and advocating for myself on this topic, it has given me a sense of relief and understanding that I wouldn’t have received otherwise.