by Lisa Maguire
A modern American child-athlete, Rob DeMasi spent his youth participating in various leagues and clubs for football and wrestling. Powerful on the field and on the mat, he was excited to launch his high school sports career with athletic college scholarships an attainable goal.
In his first year at St. Mark’s High School, he began to experience some blurry vision and muscle fatigue, which doctors believed to be psychosomatic – in Rob’s case, a physical representation of mental anxiety. He would go on being treated for anxiety and depression. Through freshman year, participating at football and wrestling practice became more difficult, and he would often have to rest in the locker room before he could play games.
Rob continued to visit doctors and specialists regarding his symptoms, but the same diagnosis persisted. Moving into sophomore year, when he should have been getting excited to get his driving permit and enjoying time with friends and focusing on sports and studies, he began having what were assumed to be panic attacks. Difficulty breathing and swallowing were new symptoms in his psychosomatic nightmare.
Although he’d had a lifelong passion and gift for sports, maintaining participation was nearly impossible. He’d miss class due to fatigue and his blurred vision, and taking the stairs made it difficult for him to get around. His frustration grew because he knew that his stress and anxiety were a result of the symptoms, not the other way around, however his doctors persisted – Rob would have to learn to live with his symptoms, as there is no real “cure” for somatoform disorders, and the most prevalent treatment is therapy.
Fast forward through his grueling sophomore year, which Rob considers to be one of the worst years of his life, to 15 months later – he’s begun his senior year and he experiences an episode of symptoms so severe he was virtually paralyzed head to toe. He spent twenty days in Christiana hospital – experiencing extreme difficulty trying to move, swallow, and talk. He even had trouble breathing on his own. Specialist after specialist visited his room, poked and prodded, tested, and nothing. His family doctor came to visit him in the hospital and advocated for Rob – telling the specialists that these symptoms were not anxiety or stress. She requested a few tests of her own, but before the results came back, Rob was discharged from the hospital with no answers and no diagnosis.
His spirits in shambles and his fear of another episode of symptoms was weighing heavily on him – he wondered what kind of life he could lead. The symptoms would advance in severity rapidly and became progressively worse – how would he finish high school, let alone move on to college or hold a job?
Fortunately, his primary care physician’s advocacy and adamance were not for naught. One of the tests returned positive for a rare autoimmune disorder called Myasthenia Gravis.
While this new diagnosis opened up a whole new array of questions for Rob and his family, it also provided relief – at least it was an answer.
Myasthenia gravis, which derives its name from Latin and Greek words that mean grave muscle weakness, is considered an autoimmune neuromuscular disease because it is caused by the body’s mistaken disruption in the transmission of signals between nerves and the muscles.
In autoimmune diseases, the body identifies normal bodily chemicals, proteins, and functions as intruders and tries to destroy them. In order to move, a brain signal must travel down a motor nerve to trigger the release of acetylcholine, a neurotransmitter that tells the muscle to move. On the muscle resides a specific receptor to “catch” the acetylcholine, which is in layman’s terms, how the brain’s message to move is translated to the muscle.
In myasthenia gravis, or MG for short, the immune system attacks the acetylcholine receptors on the muscles, so the muscle is unable to receive the message from the brain to move.
While there are no true “cures” for MG, there are some treatments available to many patients with the disease. Rob and his family went to specialists at John’s Hopkins to explore his options.
Upon visiting the hospital, Rob was greeted by the “Christus Consolator,” an eleven-foot statue of Jesus that’s more than 100 years old. Having grown up in a house of faith and attending Catholic schools his entire life, the statue brought peace and hope to Rob. “My faith and my family were, and still are, the two most important things in helping me through the worst times of my life. Dealing with a misdiagnosis – I had nothing else to rely on,” he remembers.
One of the most promising therapies, but least dependable, for MG is a thymectomy, the removal of the thymus gland. The thymus gland plays a role in the development of the immune system and production of T-cells, which are responsible for autoimmune attacks. While removal of the gland works wonderfully for some patients, the success rate and amount of relief varies from patient to patient. It can take up to two years to see any results at all, and most patients know the relief they can expect within 10 years. Additionally, when an individual living with MG endures a surgery, it can exacerbate the symptoms creating a condition known as myasthenic crisis. It’s a life-threatening state that is characterized by severe worsening of muscle weakness that can cause respiratory failure and ultimately death.
Rob had been undergoing prednisone treatments since his diagnosis, but they weren’t offering the recovery he hoped for. He and his family decided that since he was a candidate for a thymectomy, the chance of relief was worth the risk.
The day of the surgery, he placed his trust in the surgeons, and maintained his faith in God as he prepared for a procedure from which he may not wake up. The surgeons had to collapse his right lung to get to the thymus gland, meaning Rob would have to support his body with only one lung during the entire surgery – an additional risk for a myasthenic crisis. By a miracle, and some handy surgeon work, he woke up hours later with not so much as a drainage tube, let alone a ventilator. The surgery was successful in removal of the gland and in avoiding a crisis.
Within days, Rob began to experience symptoms less often and could do more and more. He gave thanks to the “Divine Healer” statue as he left Johns Hopkins, and just one month after going under the knife, he was on the track running on behalf of St. Mark’s.
The surgery offered incredible results, but it wasn’t a full-recovery. Though Rob remained on prednisone treatments, he experienced a devastating “relapse” in symptoms after he’d gone off to play college football in 2011. He returned home due to the severity and was forced to return to Christiana Hospital for another stay. Even with a diagnosis, physicians insisted on treating Rob for anxiety. Over the course of several days, he saw three neurologists, with the last one requiring that he be on anti-anxiety medicine for 24-hours before he would administer an intravenous immunoglobulin (IVIG) treatment.
Immunoglobulin is another term for the antibodies produced in the blood, and currently requires plasma donors in order to supply the treatments. After Rob’s initial treatment, he was discharged and his family physician had him resume care with a doctor in Philadelphia. Rob needs three-four viles of IVIG per treatment and, as with most MG patients, multiple treatments were necessary.
Since only a small percentage of people donate plasma, the IVIG treatments are incredibly expensive. IVIG costs $20,000 per bottle and Rob’s insurance denied the claim for this life-changing therapy. This presented a whole new level of challenges. He was ill, having to travel to get care, and fighting with the insurance company all while the expenses continued to pile up to the tune of a couple hundred thousand of dollars.
He’d had enough, and instead of throwing in the towel, he channeled his frustration. His misdiagnosis, the lack of awareness, inability to receive adequate care locally, and battles with insurance companies drove him to do something about it. So, he created the Muscle Movement Foundation.
Not only is it difficult to receive a diagnosis, it’s difficult to receive life-saving treatments because of the cost. Worse still, the treatments don’t even begin to include non-medical expenses related to muscle disease and unsuccessful therapy. Modifications to retrofit a home for a wheelchair or other necessary accommodations can be incredibly expensive.
The Foundation is 100% volunteer run and every dollar goes to the cause, a rarity in today’s charity structures. Muscle disease can present at any time in life without warning, so Rob’s mission is to serve as many people in need as possible.
I first spoke with Rob when he was preparing for the second annual MMF 5k, an event that garnered many sponsors and 500 participants in its second year. An incredible feat considering he was experiencing another relapse. He once again had to endure IVIG on top of his steroids to restore his strength.
On January 29, 2019, Rob was able to visit the Christus Consolator once again, this time ten years later and in the face of having the option to fully ween off steroids since his diagnosis in November 2008. A point he wasn’t sure he’d ever reach, considering his journey.
Though he continues in uncertainty of when he may again experience muscular weakness, Rob carries in him an incredibly strong heart. Rob’s passion, humility, and infinite gratitude for every act of kindness and every gift, no matter how small, is contagious and inspiring – if you ever get the chance to meet him, you’ll know exactly what I mean.
Make a difference in our local community today! Click the green “JOIN OUR TEAM” button at www.musclemovementfoundation.org and become involved in any way you would like. You can create your own MMF page and dedicate your athletic season to the fight against muscle disease, host a workplace event, dedicate your birthday to MMF, or host a “Friendsgiving”. You can help families who are affected by muscle disease LIVE LIFE STRONGER…All it takes is one unique idea!
