As a child, Sam was a normal rough and tumble little boy who loved to have adventures outside. We really did not notice Sam toe-walking until age 5 when he began kindergarten. We were assured by his pediatrician it was nothing out of the ordinary. As Sam grew and became involved in sports, his difficulties walking and running became more and more evident. He often complained of foot and leg pain after soccer practice and games. At the same time, it became increasingly difficult to fit Samuel in shoes due to changes in his feet. With the help of multiple physicians, exams, and a multitude of tests, he was diagnosed with Charcot Marie Tooth at age 11.
Charcot Marie tooth is a genetic condition which affects the myelin sheath of the nerves. This causes abnormal nerve function and the gradual onset of weakness in the hands, feet, arms and legs. Unfortunately, even after genetic testing, we are still unclear of Sam’s prognosis. Sam was prescribed and graduated from physical therapy. He has worn night splints and continues a daily stretching routine to aid in maintaining his strength and range of motion. He is scheduled to have surgery on both feet this spring to help correct some of the effects of this disease. We are thankful that despite his upcoming surgery, Sam continues to have a positive attitude. We have always admired Sam’s resiliency and perseverance.
Kelly Family’s Story
After 8 years of dating Mike finally popped the question at the school gym where we met. Soon after we were married my doctors informed me that it may be difficult for me to conceive due to my health conditions. Little did we know I was already expecting. After a very monitored and overall easy pregnancy our daughter Sutton was born 6 weeks early due to a Crohn’s flair. She spent a month in the NICU and then we were able to bring her home and start our life. After about 6 months of having her home I started to notice that she wasn’t playing with her feet nor moving her legs much. I became very concerned and discussing with doctors what to do next. After about a year of physical therapy and little to no improvement or signs of sitting unassisted, standing, crawling, etc. we became very worried. Finally, after tons of medical testing and no answers we started to look for another opinion.
We were referred to a neurologist at the MDA of Omaha and instantly fell in love with his passion, friendliness, and overall concern for our daughter. He spent time getting to know her and us for over an hour by simply playing, looking at photos through her life, etc. I knew instantly we were headed in the right direction. After ordering a few tests he was able to find several genetic mutations that shows Sutton has a very rare and inconclusive form of congenital muscular dystrophy.
Our family has also grown by one family member. Sutton became a big sister in July 2016 to her sister Leighton! It has been such a blessing watching the two interact and come to love one another unconditionally.
Ben grew up in Aurora, Nebraska. He was a star student and athlete when his life irrevocably changed his senior year in high school. He suffered a massive heart attack. It would be nearly a decade later before doctors would finally diagnose Ben with limb-girdle muscular dystrophy (LGMD). LGMD is a progressive disease that causes weakness and wasting, starting in the shoulder and pelvic areas. At the time of diagnosis, doctors gave him a 5-6 year life expectancy. His wife, Tarah, was pregnant with their first child at the time, but Ben never dwelled on the diagnosis. He said instead that it taught him perspective and helped him appreciate what’s important. Ben explained, “It’s all in keeping a positive attitude and having faith.”
It has been 7 years since that diagnosis and Ben is doing well. He and his wife now have two children. Despite the fact that Ben experiences weakness as the result of LGMD, he remains active and is the Director of Operations and a Clinical Perfusionist at Heme Management. He also serves as an Adjunct Professor of Perfusion at the Nebraska Medical Center and is president of the Nebraska Perfusion Society.
Ben also dedicates time to the Muscular Dystrophy Association (MDA), helping raise awareness and funds. In 2009, he received MDA’s Robert Ross Personal Achievement Award, because of his personal and professional success and the positive spirit with which he faces life’s challenges. Ben has also been a guest speaker for Community Health Charities of Nebraska, spreading his message on dealing with adversity in a positive manner.