Defying a Diagnosis

“You have been assigned this mountain to show others it can be moved.”

According to the National Institute of Health website, Congenital Myasthenic Syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk.

I have been blessed to know many inspirational people in my life, but none are closer to me than my younger sister, Laura. From birth, Laura has faced challenges that many of us take for granted-fundamental things such as properly functioning transmission of signals from nerve cells to muscles, and practical things such as being able to participate in track and field or basketball. Laura did not walk until she was nearly 2 years old and although we found her “scoot” to be endearing, had difficulty crawling as babies are expected to for proper development. She had drooping of her eye lids when younger and still worries about her appearance at times when she is fatigued as an adult. Over time she grew to reluctantly embrace help, such as piggy back rides when hiking from one of her brothers or using a wheelchair while traveling or taking in an event requiring lots of walking such as Summerfest (although it did score her a great view of Maroon 5 one summer). Laura has had to sit in the crowd and on the sidelines watching her siblings and friends compete in sporting events her whole life, but she has been able to overcome the challenges she’s faced so that she will not let her “condition” keep her sidelined in pursuing her dreams as a young adult. This fall, Laura began graduate school to become a Physician Assistant so that she may become a healthcare provider able to help others. I brag partly as a proud sister, and partly as a healthcare provider myself who recognizes all that she has done to improve her “situation”, taking control of her life and improving the trajectory of the quality of her life despite any physical challenges she may face. She did not meet one big “goal”, but rather makes choices and effort on a daily basis so that she is not defined by a diagnosis. She has chosen to work with her body to fuel it as best as she can. And, she chooses to do so with an optimistic outlook on life that I feel is key to her success.

Laura was blessed to grow up in a family that embraced a healthy lifestyle, both in prioritizing being active and in eating real, whole foods. She has received chiropractic adjustments throughout her life to aid in improving her body’s communication when it is working a little less efficiently. She makes choices on a regular basis to eat good foods and keep active knowing that when she does these things she can feel and perform at her best, which truthfully is likely better than many who are not facing the challenges she is up against. She has been to numerous support groups as she’s gotten older and often comments to us that she feels very fortunate when meeting others who have been given similar diagnoses. She has traveled across and out of the country, been employed in fast paced working environments, and lived on her own independently, not factors to be assumed when one is facing challenges involving the function of their nervous and musculoskeletal systems. Above all, she has done all of these things with a smile on her face and an optimistic outlook on life. Do you know that person who is always lifting up their friends or even strangers? Making light when an inconvenience arises? That’s Laura.

I do not simply write this to brag about my sister (though I do enjoy to raise her up as I have long admired her strength and determination). I write this to give an example of someone who does not let a challenge, one that they are born with, hold them back from achieving big things in life. At times I find myself frustrated for others when they hold themselves back in life, mistaken that they cannot do anything to overcome their own obstacles. I also write this to illustrate how by making conscious choices on a daily basis over time can lead to a healthier lifestyle and improved quality of life. Do not let a diagnosis define you, but rather let your actions and daily choices to better yourself speak louder.

What perceived challenges do you face, and what are you doing to overcome them? Laura teaches us all a lesson in perseverance and making the best of your life, and I am so fortunate that she is my sister and ever present role model to look up to in my life. We only get one life, so what are you doing to make the most of it, whether it is your daily choices in bettering your health or your outlook you choose to have each day? Choose how you care for your body and mind wisely, no matter what challenges you face-your life and the impact you get to make on the world depend on it.

minnehaha falls sisters

 

In good health,

Dr. Emily