Last updated on February 5th, 2024 at 02:42 pm
I know all of you have heard about mother’s intuition. I am a firm believer that it IS real! Believe in it, follow your gut. Your gut is talking to you and you NEED to listen. Here is my story on how I knew something was not right with my daughter and our journey to finding out that she had the RYR1 gene mutation.
By the time our oldest daughter, Ashley, was a year old, I knew something was up. I know you are not supposed to compare your child’s milestones with other children’s milestones. But I did. Come on you can admit it, we have all done it at least once! I expressed my concerns with our pediatrician. He listened. He referred us to a specialist. We saw the specialist. We were told, “She’s fine. You are over reacting. You’re a first time mom.” Blah, blah, blah. I was content with what we were told.
By the time our second daughter, Abigail, was one year old, I knew something just didn’t add up with Ashley. I addressed my concerns with our pediatrician again. He sent us to more specialists. We got the same song and dance. “She’s fine. You are over reacting.” At this point I began to doubt myself. Was I crazy? Was I imagining her tripping? Was I imagining her clumsiness? Was I imagining that she slept 12 hours a night AND took two 2 hour naps a day? Was I imagining that Ashley’s fine and gross motor delays were okay?
I remember the Christmas of 2009 like it was yesterday. My sister and her family were visiting us for the holidays. We were chatting at the dinner table. Ashley went to stand up and walk away. She literally tripped over her own feet. No joke. She went face first into the arm of the wooden kitchen chair. After a trip to the ER for stiches in her lip. And my husband shoving her permanent front tooth that she knocked out back in, I knew without a doubt, there was a problem.
I started to make a list from birth to date, which is now first grade, of events that didn’t make sense. The list included a baby who could not nurse, a baby that slept for seven straight hours only six hours after her c-section delivery, delayed milestones, fine and gross motor delays, unexplained leg and hip abnormalities. I called our pediatrician. I asked him to bring her medical records home and call me. I had a few things I wanted to discuss. I pointed out everything from birth to date that did not add up. He admitted each individual event showed no significance but all the events grouped together, yes, there was concern.
The next day we had an appointment with our first neurologist and our journey began. Test after test, procedure after procedure, the only answer we got was low muscle tone or hypotonia. I was getting very frustrated with no definite answer as to what was causing her issues. We saw three more neurologists from Jacksonville to Tampa. Two years later, still no more answers.
I was about to give up when Jessica, a mother of one of Ashley’s classmates, put me in touch with her cousin, Paige. Jessica will always been an important person in our lives because she listened to me and put us in contact with someone who could guide us to some answers. Paige suggested I send Ashley’s medical records to neurologists at the Mayo Clinic in Rochester, Minnesota. Two months later, I got a call from the nurses at the Mayo Clinic. The neurologists up there wanted to see her. When I tell you we had more done in four days at the Mayo Clinic than what we had done in three years in Florida, it is NO joke! They determined Ashley had a neuromuscular disease supported by the Muscular Dystrophy Association, MDA. No definite diagnosis but we were closer!
The Mayo Clinic let us know about a phenomenal neurologist that was coming to Orlando to work with the local MDA. After two extensive visits with Ashley, the doctor there wanted to do a blood test and had a feeling of what it was. He did not want to go into many details because he knew that I would go home and start researching online. And well we all know how that goes!
Six weeks later, that doctor called and wanted to see us the next day. Ashley tested positive for the RYR1 gene mutation. Well, it is genetic so it came from John or I. We both had to be tested. Unfortunately, I carry the RYR1 gene mutation as well. But I didn’t have any of the same muscle weaknesses as Ashley.
An RYR1 gene mutation puts Ashley at risk for malignant hyperthermia or MH. Not only can Ashley be affected by the nine MH triggering anesthetics but the heat can also affect her. When I say affect her, I mean if administered they can kill her. When we were told about her MH, I listened and listened intently. We were advised to get her and myself a medic alert bracelet to be worn at all times. I put it on my “To do list.” And several months later it still was not done. It was only after I met a friend, Lisa Groetzner, did I order the bracelets for us. Lisa lost her oldest son to a heat related MH episode. It wasn’t until I was sitting at her dining room table with tears in her eyes telling me Vincent’s story did I realize how stupid I was for not getting the bracelets as soon as I knew. Needless to say, I ordered the bracelets as soon as I got home from Lisa’s house. Ashley and I wear our medic alert bracelets every day.
My mother’s intuition was right. Ashley has a medical condition, left unknown, could kill her. Go with your gut. Mommy’s know, they just know!! Don’t give up. Keep trying to get answers. If it doesn’t add up or doesn’t make sense, keep asking. Keep pushing.
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Jennifer Sutherland works full time from home. She married her college sweetheart who is a stay-at-home father. They have 5 girls, 14, 11, 6, & 2 year old twins. They live in Central Florida. In her “free time” she enjoys spending time with her family, crafting, & drinking coffee.
