Knowledge is Power: Female Carrier Edition

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.

I truly believe that knowledge is power when it comes to medicine, genetics and knowing ourselves. I am still shocked to know that most of us don’t even know our own blood type, let alone who we are on a cellular level. Empowerment and advocacy for genetic testing can shape and alter everything about who you are, why you are and who you believe yourself to be physically, mentally, and spiritually.

In 2020, I gave birth to my daughter, who has a 50% chance of being a “Carrier” as well. I struggle daily with knowing when we should test her carrier status, when we should talk to her about her potential carrier status, or if we should wait and give her the choices and options when she is older and/or ready to have children of her own.

The assumption is that she will develop few symptoms that will affect her day-to-day life, like myself. The dilemma and confusing choice comes down to the mental and emotional component for me. Isla will grow up knowing and hearing stories of her older brother, Caleb. She will see pictures of him and most likely have questions. In turn, I bring this back to my own childhood for an example. Growing up, exercising and keeping up with my peers in sports and gym class was a struggle. In middle and high school, I was embarrassed and ashamed that I couldn’t run far and fast playing sports while my two sisters and younger brother ran road races and excelled in formal and informal athletics. I felt incompetent and chalked it up to being “out of shape,” even though looking back, I really wasn’t. The issue, I know now, is that breathing coordination can be a common struggle of carriers of MTM and weak muscles is typical.

If I had known my carrier status or even potential carrier status as a child, would that have changed much? Most likely not a physical level but I truly believe having this knowledge would have at the very least been helpful in explaining to my young self why things were as they were and why I was slightly different than my siblings and parents. As a teenager, mental health is so important and follows you into adulthood. Growing up with the subtle differences between myself and my siblings created jealousy and confusion in my teenage brain, which as an adult I can logic my way out of but didn’t have that capacity growing up.

Finding a purpose and passion in advocating for what you have experienced. Sharing your journey with those that are walking down that same path and exploring healing options inside advocating what you have been through. We all go through things in life and, unfortunately, loss is a massive part of experiencing life and love. We hold a responsibility to share with others the things we go through. To learn by teaching and holding another’s hand as they experience the same.

Advocacy and empowerment, as females, is a beautiful thing in any field and form. It is a gift we can give our children. Knowing our genes, our cells and our variants can help us make subtle lifestyle changes that enhance ourselves on all levels. It can help us bloom into who we were meant to be and propel us towards the best future for our children and selves. Knowledge will always be more powerful than choosing to stay naive in my book.

About Emma Bliss

Emma Bliss found out she was a genetic “carrier” for a rare neuromuscular X-linked disorder, Myotubular Myopathy, the unfortunate way that many other women find out about their X-linked carrier status – by giving birth to a son with the affected disorder. She is a mother to a healthy boy born in 2014 and was looking forward to welcoming his baby brother into the world in November 2017. After a perfect pregnancy, standard genetic testing included, Caleb Bliss was born into the world severely affected by this condition. After getting the results back from a whole exome genetic sequencing test, it was confirmed that Caleb received a mutated MTM1 gene from her. Caleb lived a beautiful and peaceful short 5 months and 1 day in the NICU. Emma’s family has found peace and healing in knowing he never felt pain or discomfort and lived his life being loved and held by his family.

From this loss and from the knowledge we now have, Emma has a new purpose and passion. X-Linked disorders are more common than most know, genetics is such a confusing area of medicine and one we don’t have all the answers to, but advocacy and awareness are so important. For all the babies born, male and female, for all those affected with these diseases and absolutely for the women carriers, we must stand strong together.

Emma serves as President of Remember The Girls, a non-profit dedicated to empowering, educating and advocating for women with X-Linked genetic conditions. She is passionate about prenatal care and genetic testing in pregnancy and has undergone many of the procedures herself. She resides in New Hampshire, USA with her family and welcomed a baby girl in 2020. Family planning is one of her favorite topics and she is always an open book. Continual education in the field of genetics and counseling is one of her missions in life.