June 14, 2010 was an ordinary Monday in our lives; except for that school had just ended the week prior. Our children were excited (especially my two school age boys, Vincent, 6 & Dominic, 5) to be home so that they could goof off. I left for work early that morning in hopes of getting home early to enjoy my afternoon with the kids. When I arrived home that afternoon, all was fine. Vincent wanted to go play with the neighbor’s boy.
He came back within twenty minutes, complaining that he was unable to bend his legs and that his heart was “pounding out of his chest,” as he said. He felt extremely hot, and to say that I was very concerned is 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. I rushed him to the nearest hospital 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 I could as we were running down the hall … no prior illnesses, how quickly these symptoms came on, etc. The emergency procedure is to first secure an airway. They gave 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.
(left to right, Vincent, 6, holding Alessia, 6 months, Avelina, 2, and Dominic, almost 5 - taken March, 2010)
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. We were put in touch with the wonderful people at the Malignant Hyperthermia Association of the United States.
MHAUS is an amazing non-profit organization working diligently to raise awareness, promote education, save lives; and helps families that have been devastated by the loss of a loved one. http://www.mhaus.org/ Over the years, while raising my young children and being their healthcare advocate; I have been trying to help MHAUS.ORG in any way I can by sharing information and raising awareness. I speak at conferences when I can do so, and match 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 the neuromuscular myopathy. Central Core Disease & 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 now know that my beloved husband and children should not receive any triggering agents.
If there was ever an emergency 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, his father, and his sister’s lives.
(left to right, Alessia, 3, Dominic, 8, and Avelina, 5 - taken June 14, 2013 visiting Vincent's Bench in the park where he played, "Blowing Kisses to Heaven")