June 14, 2010 was an ordinary Monday in our lives, except for that school had just ended the week prior and our children were excited (especially my two school age boys, Vincent, 6 & Dominic, 5) to be home so they could goof off. I left for work early that morning in the hopes of getting home early to enjoy the afternoon with the kids. When I arrived home that afternoon, all was fine. Vincent wanted to play with the neighbor's boy. He came back within twenty minutes complaining of not being able to bend his legs and his heart was "pounding out of his chest" as he said. He felt extremely hot and to say that I was very concerned was an understatement. I did everything I could to cool him, calm him, hydrate him, and then decided there was no time to wait for 911 and I rushed him to the hospital down the road as quickly as I could. Everything happened so fast. As I carried him into the Emergency Room, he started seizing from his rising temperature. I gave the medical personnel all the information that I could as we were running down the hall...no prior illness, how quickly these symptoms came on, etc...
The emergency procedure is to secure an airway. They have him succinylcholine which is a fast-acting muscle relaxant to be able to place a breathing tube to secure the airway. This is where an already bad situation, turned fatal. We did not know that Vincent was susceptible to Malignant Hyperthermia and that he had a variance in the RYR1 gene. We also did not know that he had an undiagnosed neuromuscular myopathy called Central Core Disease. These rare conditions commonly go hand-in-hand. Succinylcholine is a known triggering agent for Malignant Hyperthermia. Vincent had already been in the throes of an "Awake Malignant Hyperthermia" episode and then a triggering agent was added to the mix, which made for a fatal outcome. Our family is completely devastated.
As we searched for answers, and the Medical Examiner went over everything with a fine tooth comb, it was determined that his cause of death was Malignant Hyperthermia due to an undiagnosed neuromuscular disease and we were put in touch with the wonderful people at the Malignant Hyperthermia Association of the United States. MHAUS is an amazing nonprofit organization working diligently to raise awareness, promote education, help families that have been devastated by the loss of a loved one, and save lives. Over the years, while raising my young children and being their healthcare advocate, I have been trying to help MHAUS in any way I can by sharing information and raising awareness, speaking at conferences when I can, donations, and matching grant donations through my employer. Every little bit helps.
During the aftermath of this horrible loss, we discovered that Vincent's father and two of his siblings, Dominic and Avelina (then 5 & 2, respectively) have this variance in the RYR1 gene which indicates Malignant Hyperthermia susceptibility. We further tested and my husband underwent a muscle biopsy to confirm this through the Caffeine-Halothane Contracture Test (CHCT), and also a histological exam of the muscle to confirm neuromuscular myopathy. Central Core Disease and MH were confirmed.
I cannot stress enough the importance of my husband and my children wearing their medical I.D. bracelets indicating that they have Central Core Disease and are susceptible to Malignant Hyperthermia. Medical Professionals will not know that my beloved husband and children should not receive any triggering agents. If there was ever an emergent situation in the future and I am not there or able to speak on their behalf, I am comforted knowing that they wear their medical I.D. bracelets. When I first gave the children their bracelets and they didn't want to wear them, I told them that this was Vincent's Gift to them and that it will protect them so the doctors know not to give them a medication that will harm them. I have to hold onto the fact that Vincent has saved his father, brother, and sister's lives.