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Julie Bailey

Posted By Administration, Friday, June 5, 2015


My MH Experience, MH testing - Why Genetic Testing and not CHCT


The journey to finding out what happened to me on August 13, 2008 was the result of months spent gathering information.  I had just had my second child when my MH episode occurred. It was not diagnosed as MH by any medical staff at the time.  That day and subsequent days in the hospital were filled with multiple anesthesia-related mishaps and occurrences, not all having to do with MH.


An hour after I gave birth, I had minor surgery.  The plan had been to use my epidural line, but somehow blood got into the line, so they could not re-use it.  Therefore, general anesthesia was indicated, Succinylcholine was administered as the relaxant before the rest of the drugs, and my surgery was performed. Afterward, my mom tried to feed me ice chips in the recovery room.  My jaws were shut so tight I could not get my teeth apart to open my mouth.  An hour or more after my MH incident, when I was back in my hospital room but still fuzzy from the anesthesia, the CRNA came in and told us that my jaw muscles had locked up. She said it had been stressful in the operating room for a moment, but then said they had decided it wasn't “Malignant Hyperthermia” because it would have been much worse, and they were finally able to pry open my mouth just enough to shove in the breathing tube so I could breathe again. That brief mention of “Malignant Hyperthermia” by the nurse was written down by my mom. The surgery had not been halted and no post-op monitoring for MH was performed. Over the next few days, several CRNAs would pop in my room and visit me, and ask me to open my mouth.  I still could not open it very far.  They finally determined among themselves (in my hearing) that I had a small jaw and told me I needed to inform future anesthesiologists that it was difficult to intubate me.  Another “symptom” I expressed for several days was swelling near both temples.  No doctors or nurses could figure out the cause of the swelling until the baby’s pediatrician came in a day later and identified it as swelling in connection with the jaw muscles. After I got home, I had my doctor check with the surgeon about the possibility of MH. The surgeon said it could not have been MH, as the “muscle relaxant hadn’t kicked in yet” when my jaws locked up. The surgeon told my doctor the jaw joint was small so they had trouble intubating me.  I was also told it could not have been MH due to the limited muscle involvement, because MH is much worse.


After I was back home, my mom insisted I keep asking questions to try to find some answers about my jaws locking up.  Over the next few months, getting my hospital records, reading through them and trying to figure out what the notations and abbreviations meant was a fairly major effort with a newborn in tow.  Absolutely NO mention was made anywhere of the jaw muscles locking up and the difficulty intubating me, other than on the Anesthesia Record where the Difficulty scale was shown as a 2 out of 4.  I really began to wonder if I was going crazy and had just imagined the whole thing.  I saw my dentist the next month and told him I apparently had a small jaw.  My dentist said I definitely did not have a small jaw and that he was convinced I’d had some sort of allergic reaction to a medicine they’d given me.  


A few months after my MH incident, in connection with sedation before a medical procedure, I met a nurse and told her I might have an allergy to Succinylcholine, a drug that had been mentioned (abbreviated as Sux) on my hospital anesthesia record.  She then said she had a niece with Malignant Hyperthermia, that it could be deadly, and that I needed to take this seriously and pursue it further. So I renewed my efforts to try to figure out what had happened, and found MHAUS on the internet. I emailed MHAUS with the situation that had occurred during my surgery and asked if I could possibly have MH. Dr. R responded and told me that based on my jaws locking up, i.e., masseter muscle rigidity (MMR) after Succinylcholine, the possibility was greater than 50% that I had MH.


Why did I pursue genetic testing instead of CHCT?  Since I had a newborn and a three year old, the idea of having to travel from Alaska with one or both of them for the muscle biopsy was overwhelming.  We didn't have thousands of dollars to throw at a test for something I was about 50% likely to have, and my insurance would not assure me it would be paid for.  When we went for a pediatric visit three months after my episode, I mentioned my possible MH to the pediatrician, and told him that the kids might have inherited it. During his residency, the pediatrician had an MH patient die, so he was familiar with MH and suggested the idea of genetic testing. Seattle Children's Hospital had a genetics clinic up here in Anchorage every few months in 2008, so we were referred by the pediatrician for a consultation.  After that initial consultation, the Seattle Children's Hospital doctor was the referring doctor for my genetic testing.


I decided to start with the Tier One (least expensive and first level) test and am thankful my mutation (RYR1 exon 17, which has been shown to be causative for MH) was found on the first tier of genes tested.  Once my mutation was identified, the rest of the immediate family were tested for that specific mutation only, which was less expensive. Amazingly, seven out of the eight of us that were tested came back positive for the mutation.  My son was the only one who didn't test positive. I checked with Dr. R. again and was told that since we had tested positive for that mutation, even without the CHCT we could be certain that we were MH Susceptible. This final confirmation happened almost five months after my MH episode occurred.


If you pursue genetic testing, be sure you research what is needed ahead of time.  MHAUS has a list of the facilities that perform molecular genetic testing.  I recommend contacting them to know exactly what they need for the test. My suggestion is to print the information and provide it to the lab.  My sister had to have her blood drawn twice (in Kansas) because the lab staff had not done it correctly. [Note from MHAUS- A genetic counselor would be a great start to those interested in genetic testing. Click here for more information about genetic counselors.]


Even though my MH episode did not threaten my life from body-wide muscle involvement, it did interfere with insertion of my breathing tube. Over the last few years, I often experience muscle tightness in my jaws which can lead to headaches, not particularly in times of stress.  Whether or not this is a result of muscle damage from the MMR involvement from MH, I don’t know. But it makes me wonder.


In 2008, I felt like I was on my own in navigating through much of my MH Journey, and I still get emotional talking about it. I would have LOVED to have an advocate help me through it.  My hope would be that people like me (who don’t have knowledgeable docs around) would be able to find more local support through the process in the future. I learned that we are the best advocates for ourselves and for our families.  Sometimes we must keep pursuing something that we have a feeling about, even when we are told not to worry by medical professionals.  Had I not been spurred on to pursue it, someone in my family might have had a less favorable outcome from anesthesia in the future because we would not have known we were MH Susceptible.


On a positive note, my elementary aged son chose to do a Curiosity Project on MH this year, and he got to educate teachers, students and even some parents on MH.  This was a rewarding experience for us.


I believe MHAUS is a tremendous resource that is doing all it can to educate the medical community. My experience is that the medical community still has much to learn.



Views and opinions expressed on this page are only those of the individual telling their story. MHAUS has not clinically vetted the content. 

Tags:  Julie Bailey 

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